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Masculinizing hormone therapy – About – Mayo Clinic


Masculinizing hormone therapy is used to induce the physical changes in your body caused by male hormones during puberty (secondary sex characteristics) to promote the matching of your gender identity and body (gender congruence). If masculinizing hormone therapy is started before the changes of female puberty begins, female secondary sex characteristics, such as the development of breasts, can be avoided. Masculinizing hormone therapy is also referred to as cross-sex hormone therapy.

During masculinizing hormone therapy, you’ll be given the male hormone testosterone, which suppresses your menstrual cycles and decreases the production of estrogen from your ovaries. Changes caused by these medications can be temporary or permanent. Masculinizing hormone therapy can be done alone on in combination with masculinizing surgery.

Masculinizing hormone therapy isn’t for all transgender men, however. Masculinizing hormone therapy can affect your fertility and sexual function and cause other health problems. Your doctor can help you weigh the risks and benefits.

Mayo Clinic’s approach

Masculinizing hormone therapy is used to alter your hormone levels to match your gender identity.

Typically, people who seek masculinizing hormone therapy experience distress due to a difference between experienced or expressed gender and sex assigned at birth (gender dysphoria). To avoid excess risk, the goal is to maintain hormone levels in the normal range for the target gender.

Masculinizing hormone therapy can:

Although use of hormones is currently not approved by the Food and Drug Administration for treatment of gender dysphoria, research suggests that it can be safe and effective.

If used in an adolescent, hormone therapy typically begins at age 16. Ideally, treatment starts before the development of secondary sex characteristics so that teens can go through puberty as their identified gender. Hormone therapy is not typically used in children.

Masculinizing hormone therapy isn’t for everyone, however. Your doctor might discourage masculinizing hormone therapy if you:

Talk to your doctor about the changes in your body and any concerns you might have. Complications of masculinizing hormone therapy include:

Evidence suggests no increased risk of breast or cervical cancer.

The evidence that masculinizing hormone therapy increases the risk of ovarian and uterine cancer is inconclusive. Further research is needed.

Because masculinizing hormone therapy might reduce your fertility, you’ll need to make decisions about your fertility before starting treatment. The risk of permanent infertility increases with long-term use of hormones, especially when hormone therapy is initiated before puberty. Even after discontinuation of hormone therapy, ovarian and uterine function might not recover well enough to ensure that you can become pregnant.

If you want to have biological children, talk to your doctor about egg freezing (mature oocyte cryopreservation) or embryo freezing (embryo cryopreservation). Keep in mind that egg freezing has multiple steps ovulation induction, egg retrieval and freezing. If you want to freeze embryos, you’ll need to go through the additional step of having your eggs fertilized before they are frozen.

At the same time, while testosterone might limit your fertility, you’re still at risk of pregnancy if you have your uterus and ovaries. If you want to avoid becoming pregnant, use a barrier form of contraception or an intrauterine device.

Before starting masculinizing hormone therapy, your doctor will evaluate your health to rule out or address any medical conditions that might affect or contraindicate treatment. The evaluation might include:

You might also need a mental health evaluation by a provider with expertise in transgender health. The evaluation might assess:

Adolescents younger than age 18, accompanied by their custodial parents or guardians, also should see doctors and mental health providers with expertise in pediatric transgender health to discuss the risks of hormone therapy, as well as the effects and possible complications of gender transition.

Typically, you’ll begin masculinizing hormone therapy by taking testosterone. Testosterone is given either by injection or by a patch or gel applied to the skin. Oral testosterone or synthetic male sex hormone (androgen) medication shouldn’t be used because of potential adverse effects on your liver and lipids.

If you have persistent menstrual flow, your doctor might recommend taking progesterone to control it.

Masculinizing hormone therapy will begin producing changes in your body within weeks to months. Your timeline might look as follows:

After masculinizing hormone therapy, you’ll meet regularly with your doctor. He or she will:

After masculinizing hormone therapy, you will also need routine preventive care if you have not had certain surgical interventions, including:

When undergoing cervical cancer screening, be sure to share that you’re on testosterone therapy and make sure that the gender designation on your sample is disregarded. This kind of therapy can cause your cervical tissues to thin (cervical atrophy), which might mimic a condition in which abnormal cells are found on the surface of the cervix (cervical dysplasia).

Aug. 31, 2017

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Masculinizing hormone therapy – About – Mayo Clinic

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Hypopituitary: Hypopituitarism Causes, Symptoms & Treatment

What is Hypopituitaryism?

What Causes Hypopituitary?

A loss of function of the pituitary gland or hypothalamus results in low or absent hormones. Tumors can cause damage to the pituitary gland or hypothalamus and can therefore result in a loss of function. Damage to the pituitary gland can also be caused by radiation, surgery, infections (eg, meningitis), or various other conditions. In some cases, the cause is unknown.

What Are the Symptoms of Hypopituitary?

Some persons may have no symptoms or a gradual onset of symptoms. In other persons, the symptoms may be sudden and dramatic. The symptoms depend on the cause, rapidity of onset, and the hormone that is involved.

When to See a Doctor for Hypopituitary

Call the doctor or health care practitioner if any symptoms develop.

What Exams and Tests Diagnose Hypopituitary?

The doctor or health care practitioner may perform blood tests to determine which hormone level is low and to rule out other causes. The following tests may be performed:

An MRI or CT scan of the pituitary gland may be obtained to determine if a tumor is present.

In children, X-rays of the hands may be taken to determine if bones are growing normally.

What Is the Treatment for Hypopituitary?

Medical treatment consists of hormone replacement therapy and treatment of the underlying cause.

What Are the Medications Used to Treat Hypopituitary?

Drugs used to treat hypopituitarism replace the deficient hormone.

Is Surgery a Treatment Option for Hypopituitary?

Surgery may be performed depending on the type, size, and location of the tumor.

What Is the Follow-up for Hypopituitary?

Checkups with the doctor or health care practitioner are important. The doctor may need to adjust the dose of hormone replacement therapy.

What Is the Outlook for Hypopituitary?

If hormone replacement therapy is adequate, the prognosis is good. Complications are often related to the underlying disease.

Reviewed on 1/3/2018

Medically reviewed by John A. Daller, MD; American Board of Surgery with subspecialty certification in surgical critical care


“Clinical manifestations of hypopituitarism”

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Hypopituitary: Hypopituitarism Causes, Symptoms & Treatment

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Finest Bioidentical Hormone Doctors | Hormone Specialist

Dr. Edmund Chein, M.D., author of Age Reversal, Bio-Identical Hormones and Telomerase, and Living to 120 and Beyond, has appeared on various radio and television shows such as:

Dr. Chein is a practicing physician in Palm Springs, California who is regarded by many as one of the founding fathers of longevity and anti-aging medicine.Today, he is known as one of the best bioidentical hormone doctors in the world.

His method of life extension was recently validated by achieving a biological age of 34 as measured by telomere length in the DNA at the calendar age of 61. His patients, who had followed him since 1994, achieved similar results.

He is offering a cash reward of $25,000 to the public for anyone who can show a difference of greater than 27 years between the persons biological age and calendar age.

Dr. Chein was trained at the University of Southern California Medical Center in Rehabilitation Medicine a specialty focused on restoring function to disabled patients. Now, Dr. Chein has narrowed his specialty to rehabilitating those suffering from the disease of aging. He considers aging to be a disease because aging, like any other disease, ultimately leads to death.

Dr. Chein learned the importance of hormone balancing during the years he replaced hormones in patients with damaged glands. In the early 1990s, he researched and discovered the miraculous benefits of the total hormone balancing treatment. His study with Dr. Cass Terry of the Medical College of Wisconsin showed that by replacing and balancing all the hormones in ones body, a person can improve and normalize the bodys systems and functions that deteriorate with age. This results in REVERSING ones biological age and eliminating age-related diseases such as elevated cholesterol, increased body fat, decreased energy and stamina, decreased immunity, decreased sexual functions, and wrinkling of skin. Together, they completed the largest study to date (of 1,000 human subjects) on supplementing growth hormone and other hormones to achieve reversal of biological age.

Dr. Chein was the first hormone doctor in the United States to discover and patent total hormone balancing therapy. He was also the first physician to supplement and optimize human growth hormone in adults in a private practice. In addition, Dr. Chein was the first physician to advocate supplementing thymus hormone and pregnenolone hormone.

Hormone specialist, Dr. Cheins work has been discussed in Newsweek, Health and Medicine for Physicians, Ability, Cosmopolitan, and Life Extension Magazine, to name a few.

In 1994, Dr. Chein founded the Palm Springs Life Extension Institute. The Institute is visited by hundreds of new patients from all over the world, and has the largest clinical client base in hormone replacement therapy. In 1996, he founded the American Academy of Longevity Medicine for bioidentical hormone physicians and scientists to pursue and exchange ideas regarding this new specialty.

In 2010, Dr. Chein founded the Autologous Stem Cell Therapy Institute. Autologous Stem Cell Therapy uses peripheral-blood-derived and adipose-tissue-derived autologous stem cells to regenerate damaged joints (such as torn meniscuses) and damaged organs such as the lungs (emphysema) and the brain (stroke).

He has been granted three patents by the United States Patent and Trademark Office for his discoveries in Total Hormone Replacement Therapy, Method of Hormone Treatment for Patients with Multiple Sclerosis, and Reversal of Coronary Blockages.

His publications include Clinical Experience Using a Low-Dose, High-Frequency Human Growth Hormone Treatment Regimen, Journal of Advancement in Medicine, December 1999, and Retrospective Analysis of the Effects of Low-Dose, High-Frequency Human Growth Hormone Treatment on Serum Lipids and Prostate-Specific Antigen, American Journal of Aging, May 2001.

In addition to his medical degree, Dr. Chein has a Bachelor of Arts degree in Psychology from the University of Southern California and a Juris Doctor degree from Southwestern University School of Law.

Dr. Chein, a renowned name among bioidentical hormone doctors, has written three books:Age Reversal (1997)Bio-Identical Hormones and Telomerase (2011)Living to 120 and Beyond (2013)

Dr. Chein is often asked to speak publicly. Recent Activity

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Finest Bioidentical Hormone Doctors | Hormone Specialist

Recommendation and review posted by Bethany Smith

Human Gene Therapy | Mary Ann Liebert, Inc. publishers

Human Gene Therapy is the premier, multidisciplinary journal covering all aspects of gene therapy. The Journal publishes in-depth coverage of DNA, RNA, and cell therapies by delivering the latest breakthroughs in research and technologies. Human Gene Therapy provides a central forum for scientific and clinical information, including ethical, legal, regulatory, social, and commercial issues, which enables the advancement and progress of therapeutic procedures leading to improved patient outcomes, and ultimately, to curing diseases.

The Journal is divided into three parts. Human Gene Therapy, the flagship, is published 12 times per year. HGT Methods, a bimonthly journal, focuses on the applications of gene therapy to product testing and development. HGT Clinical Development, a quarterly journal, serves as a venue for publishing data relevant to the regulatory review and commercial development of cell and gene therapy products.

Human Gene Therapy was voted one of the most influential journals in Biology and Medicine over the last 100 years by the Biomedical & Life Sciences Division of the Special Libraries Association.

Human Gene Therapy, HGT Methods, and HGT Clinical Development are under the editorial leadership of Editor-in-Chief Terence R. Flotte, MD, University of Massachusetts Medical School; Deput Editors Europe Nathalie Cartier, MD, INSERM, andThierry VandenDriessche, PhD, Free University of Brussels (VUB); Deputy Editors U.S. Barry J. Byrne, MD, PhD,Powell Gene Therapy Center, University of Florida, College of Medicine and Mark A. Kay, MD, PhD, Stanford University School of Medicine; Human Gene Therapy Editor Guangping Gao, PhD, University of Massachusetts Medical School; Methods Editor Hildegard Bning, PhD, Hannover Medical School; Clinical Development Editor James M. Wilson, MD, PhD,University of Pennsylvania School of Medicine, Gene Therapy Program; and other leading investigators. View the entire editorial board.

Audience: Geneticists, medical geneticists, molecular biologists, virologists, experimental researchers, and experimental medicine specialists, among others.

Human Gene Therapy and HGT Methods provide Instant Online publication 72 hours after acceptance

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Human Gene Therapy | Mary Ann Liebert, Inc. publishers

Recommendation and review posted by Rebecca Evans

Most Common Multiple Sclerosis Treatments

While there is no cure for multiple sclerosis yet, there are plenty of options available that can help treat symptoms, relapses, and the disease itself.

For those most part, those treatments can fall into one of three camps, each with different purposes. Those treatments are medications, corticosteroids, and disease modifying agents.

Let’s look at each a little more closely.


Medications may be used short term or long term, and for a variety of different reasons. In general, though, most doctors will prescribe medications as part of an effort to minimize the intensity of various symptoms, thereby improving daily function and quality of life. For instance, if MS is resulting in depression for you, a doctor might prescribe antidepressants.


Steroids are often prescribed for MS patients as a way of reducing the severity of a flare-up or relapse, and as such, are usually only prescribed over short periods of time, such as a few days up to a few weeks. Prednisone is one of the most commonly prescribed, though there are others as well.

Disease-Modifying Agents

So far the FDA has approved close to a dozen of these drugs, each of which is aimed at slowing the progression of multiple sclerosis. In general they are most often prescribed for patients with relapse remitting MS or secondary progressive MS.

Combination Prescriptions

For most MS patients, their treatment plan may include several different prescriptions from more than one of the categories above. Some treatments work better than others, and what works well for one MS patient may not work at all for another. As a result, it can take time to determine a medication plan that makes sense for your individual case.

Medications and steroids have long been part of MS treatment plans; disease-modifying agents are a little newer, but most MS patients are now on them.

Let’s look a little more closely.

DMA Questions

DMAs aren’t always easy to take, can have serious side effects (which means they require far more monitoring and testing than the more established other classes of MS drugs), and can be quite expensive. While some patients get assistance in paying for these drugs, either through drug trials, financial aid, or spectacular insurance, far more MS patients are forced to pay out of pocket.

And some studies are now suggesting that DMAs may not work, as interferons (the active part of DMAs) may not actually reduce MS progression. At this time, the research remains mixed.

So should you take a DMA. Or what medication should you take?

Medication Guidelines

First, keep in mind that you didn’t go to medical school. Your doctors, on the other hand, did. At the same time, it’s your body, and you have every right to be informed about what goes in it as part of your treatment plan.

Toward that end, I have a few tips:

  • Doctors aren’t always right. MS patients should listen to their doctor’s knowledge and expertise, certainly, but they should also have final say as to what goes in their body.
  • You rarely if ever will have to make a treatment decision immediately. Instead, you can take your time in doing your research most of the time, as a delay of a few weeks will rarely make a difference in the overall progression of your MS. Use common sense, but also do your research.
  • Toward that end, research thoroughly. Look at the drug trials information, the contraindications, and more. Carefully evaluate any study you look at.
  • And lastly, know the risks and benefits of any drug you do take. If you’re young especially, consider the long-term risks as well.

There still is no cure for MS, nor is there any magic that it’ll make it disappear. You can, however, manage your treatment and do your homework. You can also take care of yourself by taking your own action, making sure you get plenty of sleep, limit stress, exercise regularly, and eat well. Alternative therapies such as massage or yoga can also help.

No matter what your treatment, though, remember: You are in charge of your MS.

Multiple Sclerosis – An infographic by MS


Recommendation and review posted by Rebecca Evans

The Genetics of Depression Are Different for Men and Women

A wiring diagram of a human brain.Illustration: NIH

There may not be a single depression gene, but theres no question that our genetic makeup is an important factor in whether or not we get depressed. And our sex, it turns out, can be a factor in how those genes are expressed. In men and women diagnosed with major depressive disorder, the same genes show the opposite changes. In other words, the molecular underpinnings of depression in men and women may be different.

Thats according to a new postmortem brain study published on Wednesday in the journal Biological Psychiatry. The study could in the future help lead to more effective treatments for depression, if it turns out that men and women need different types of treatment.

To arrive at that conclusion, researchers at the University of Pittsburgh and Torontos Centre for Addiction and Mental Health analyzed gene expression levels in the postmortem brain tissue of 50 people who had major depressive disorder, of which 26 were men and 24 were women. (The data on their subjects was collected from several existing published data sets.) They also looked at the postmortem brain tissue of 50 men and women not diagnosed with depression. Gene expression levels are an indication of how much of a particular protein an individual gene is producing.

In the women with depression, they found that genes affecting synapse function were more expressed, meaning genes that play a role in how electrical activity is transferred between cells were producing more protein. In men, those same genes had decreased expression. In other genes with altered expression, a particular change occurred in only men or only women. Of 706 gene variants in men with depression and 882 variants in women with depression, 52 of the genes showed opposite changes in expression between the men and women. Only 21 genes changed in the same way in both sexes.

In the study, researchers focused on three regions of the brain that regulate mood: the dorsolateral prefrontal cortex, subgenual anterior cingulate cortex, and basolateral amygdala. To bolster their findings, they also looked at a smaller dataset of men and women with major depressive disorder and found similar results. More research, including studies in living patients, will be necessary to further validate the results.

The study is significant for two reasons. For one, it is the first to suggest an opposing pathology for depression in men and women, which could eventually influence how depression is treated. Depression is complex disease that occurs in different regions of the brain, and increased understanding of the neurology and genetics of depression may lead to tailored depression treatments that are far more effective.

But the study also highlights the necessity of diversity in scientific study. Major depressive disorder affects women about twice as often as men. Women are also more likely to experience symptoms like weight gain along with depression, suggesting the biological mechanisms at work may be different. But many depression studies only look at men, and ones that look at both sexes do not necessarily differentiate between the two when reporting findings.

The science of genetics overwhelmingly suggests how similar we all really are. But it also underscores how much there is to gain from understanding and embracing how we are different.

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The Genetics of Depression Are Different for Men and Women

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Antibodies Part 1: CRISPR – Radiolab

Hidden inside some of the worlds smallest organisms is one of the most powerful tools scientists have ever stumbled across. It’s a defense system that has existed in bacteria for millions of years and it may some day let us change the course of human evolution.

Out drinking with a few biologists, Jad finds out about something called CRISPR. No, its not a robot or the latest dating app, its a method for genetic manipulation that is rewriting the way we change DNA. Scientists say theyll someday be able to use CRISPR to fight cancer and maybe even bring animals back from the dead. Or, pretty much do whatever you want. Jad and Robert delve into how CRISPR does what it does, and consider whether we should be worried about a future full of flying pigs, or thesimple fact that scientists have now used CRISPR to tweak the genes of human embryos.

As of February 24th, 2017 we’ve updated this story.

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Antibodies Part 1: CRISPR – Radiolab

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Genetically modified skin grown from stem cells saved a 7 …

Scientists reported Wednesday that they genetically modified stem cells to grow skinthat they successfully grafted over nearly all of a child’s body a remarkable achievement thatcouldrevolutionize treatment of burn victims and people with skin diseases.

The research, published in the journalNature, involved a 7-year-old boy who suffers from a genetic disease known as junctional epidermolysis bullosa (JEB)that makes skin so fragile that minor friction such as rubbing causes the skin to blister or come apart.

By the time the boy arrived at Children’s Hospital of Ruhr-University in Germany in 2015, he wasgravely ill.Doctors noted that hehad complete epidural loss on about 60 percent of his body surface area, was in so much pain that he was on morphine, and fighting off a systemic staph infection. The doctors triedeverything they could think of: antibiotics, changing dressings, grafting skin donated by his father. But nothing worked, and they told his parents to prepare for the worst.

We had a lot of problems in the first days keeping this kid alive, Tobias Hirsch, one of the treating physicians, recalled in a conference call with reporters this week.

Gene therapy to treat a skin disease. (Nature News & Views)

Hirsch and his colleague Tobias Rothoeft began to scour the medical literature foranything that might help and came acrossanarticle describing a highlyexperimental procedure to genetically engineer skin cells.They contacted the author, Michele De Luca, of the Center for Regenerative Medicine at the University of Modena and Reggio Emilia in Italy. De Luca flew out right away.

Using a technique he had used only twice before and even then only on small parts of the body,De Luca harvested cells froma four-square-centimeter patch of skin on anunaffected part of the boy’s body and brought them into the lab. There, he genetically modified them so that they no longer contained the mutated form of a gene known to cause the disease and grew the cells into patches of genetically modified epidermis. They discovered, the researchers reported, that the human epidermis is sustained by a limited number of long-lived stem cells which are able to extensively self-renew.

In three surgeries, the child’s doctorstook that lab-grownskin and used it to cover nearly 80 percent ofthe boy’s body mostly on the limbs and on his back, which had suffered the most damage. The procedure was permitted under a compassionate useexception that allows researchers under certain dire circumstances to make a treatment available even though it is not approved by regulators for general use. Then, over the course of the nexteight months while thechild was in the intensive care unit, they watched and waited.

The boy’srecovery was stunning.

The regenerated epidermis firmly adhered to the underlying dermis, the researchers reported. Hair follicles grew out of some areas. And even bumps and bruises healed normally. Unlike traditional skin grafts that requireointmentonce or twice a day to remain functional, the boy’s new skin was fine with the normal amount of washing and moisturizing.

The epidermis looks basically normal. There is no big difference, De Luca said. He said he expects the skin to last basically the life of the patient.

In an analysis accompanying themain article in Nature, Mariacelest Aragona and Cedric Blanpain wrote that this therapy appears to be one of the few examples of trulyeffective stem-cell therapies. The study demonstrates the feasibility and safety of replacing the entire epidermis using combined stem-cell and gene therapy, and also provides important insights into how different types of cellswork together to help ourskin renew itself.

They said there are still many other lingering questions, including whether such procedures might work better in children than adults and whether there would be longer-term adverseconsequences, such as the development ofcancer.

There are also manychallenges to translating this research to treating wounds sustained in fires or other violent ways. In the skin disease that was treated in the boy, the epidermis is damaged but the layer beneath it, the dermis, is intact. The dermis is what the researchers called an ideal receiving bed for the lab-grown skin. But if deeper layers of the skin are burned or torn off, it’s possible that the artificial skin would not adhere as well.

No matter how you prepare, its a bad situation, De Luca said. For the time being, he says he’s continuingto study the procedure in two clinical trials that involve genetic diseases.

Meanwhile, Hirsch and Rothoeft report that the boy is continuing to do well and is not on any medication for the first time in many years. Doctors are carefully monitoring the child for any signs that there may be some cells that were not corrected and that the disease may reemerge, but right now that does not appear to be happening in the transplanted areas. However, the child does have some blisteringin about 2 to 3 percent of his body in non-grafted areas, and they are considering whether to replace that skin as well.

But for now, they are giving the boy time to be a boy, Rothoeft said: The kid is now back to school and plays soccer and spends other days with the children.

Read more:

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Genetically modified skin grown from stem cells saved a 7 …

Recommendation and review posted by Rebecca Evans

Genetic Testing | HealthyWomen

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What Is It?Genetic testing is used to confirm the presence of genetic diseases, as well as to measure your risk of developing a disease or of passing along a genetic disorder to a child.Today, there are hundreds of genetic tests, some of them for relatively common disorders, such as cystic fibrosis, and others for very rare diseases. A genetic test is fundamentally different from other kinds of diagnostic tests you might take. Indeed, a whole new field, genetic counseling, has grown up around the need to help incorporate family history and genetic testing into modern health care.

The purposes of genetic tests vary. Some genetic tests are used to confirm a preliminary diagnosis based on symptoms. But others measure your risk of developing a disease, even if you are healthy now (presymptomatic testing), or determine whether you and your partner are at risk of having a child with a genetic disorder (carrier screening).

As the name suggests, a genetic test looks at your genes, which consist of DNA (deoxyribonucleic acid). DNA is a chemical message to produce a protein, which has a specific function in the body. Proteins are essential to lifethey serve as building blocks for cells and tissues; they produce energy and act as messengers to make your body function. In addition to studying genes, genetic testing in a broader sense includes biochemical tests for the presence or absence of key proteins that signal aberrant gene function.

What do Genetic Tests Test For?

Chromosome AbnormalitiesLong strings of DNA condense together, packaging the DNA in the form of a chromosome. Most people have 23 pairs of chromosomes in the nucleus of each cell. One of each chromosome pair is inherited from the mother and the other is inherited from the father. Some tests look at chromosomes for abnormalities such as extra, missing or transposed chromosomal material. The chromosomes hold 20,000 to 25,000 genes, meaning that each chromosome is densely packed with genes. Extra or missing pieces of chromosomes can have a significant impact on the health of an individual. Also, sometimes pieces of chromosomes become switched, or transposed, so that a gene ends up in a location where it is permanently and inappropriately turned on or off. The genes on the chromosomes are responsible for making proteins, which direct our biological development and the activity of about 100 trillion cells in our bodies.

If something goes wrong with an essential protein, the consequences can be severe. For example, a protein called alpha-1 antitrypsin (AAT) clears the lungs of a caustic agent called neutrophil elastase. If the body has an alteration in the gene that makes the protein AAT, the AAT protein may not be made correctly or at all. Then neutrophil elastase will build up in the lungs, and the individual can develop emphysema and other complications.

MutationsMost genetic conditions are the result of mutations in the DNA, which alter the instructions for making a given protein. Some mutations are inherited on genes passed down from parents, while others occur during an individual’s lifetime. These mutations can lead to diseases ranging from those we think of as “genetic diseases,” such as cystic fibrosis or AAT deficiency, to those we think of as degenerative diseases, such as heart disease. In the case of diseases like heart disease, asthma or diabetes, a combination of factorssome genetic, some related to environmental or lifestylemay work together to trigger the disease.

It’s possible to have a mutation, even one for a severe disease, such as cystic fibrosis (CF) and never know it. Almost all humans have two copies of each chromosome and therefore have two copies of each gene, one inherited from the mother and the other from the father. If only one copy of a given gene has a mutation, you are a healthy carrier of the disorder. You “carry” the mutation but do not have the disease. If both copies of a gene have a mutation, you will have the disease. Such disorders are called autosomal recessive. If you are a carrier, the unaltered gene in the pair retains the function. Those who are diagnosed with a recessive disease have inherited two copies of a gene, both carrying a mutation. Therefore, since one of those copies came from the mother and the other from the father, both parents must have at least one copy of the gene with a mutation. If two carriers of the same disease-causing gene have children, each pregnancy has a 25 percent chance of having the disease (because of a 25 percent chance of inheriting both the mother’s and the father’s mutated copies of the gene), a 50 percent chance of being a carrier and a 25 percent chance of not inheriting the mutation at all.

Some disorders, such as Huntington disease, are autosomal dominant. If a person has one mutated gene, its effects will cause the disease, even if the matching gene is normal. Thus, each child of a parent with Huntington disease has a 50 percent chance of inheriting the gene causing the disease. Osteogenesis imperfecta, which causes brittle bones, is another example of a dominant disorder.

Chromosomes can be one of two types: sex chromosomes or autosomes. Sex chromosomes are X and Y. Most men have an X and a Y, and most women have two Xs. If each parent contributes an X chromosome, the child is a girl; if the father passes on his Y chromosome, the child is a boy. Because girls have two X chromosomes, and therefore two copies of every X-linked gene, they are less likely than boys to have symptoms from X-linked genetic diseases because boys don’t have a backup copy if an X-chromosome gene has a mutation. Examples of X-linked diseases include forms of hemophilia and fragile X syndrome (the most common inherited cause of mental impairment). Autosomes are the remaining 22 pairs of chromosomes. Therefore, most diseases are autosomal, or due to genes on the autosomes.

What Genetic Tests Can Find

Unclear Results Although genetic testing can be very useful in diagnosis, prevention and medical decision-making, genetic tests do not always provide clear answers. One such result is a “variant of uncertain significance.” All people have differences in their DNA, so if a new DNA alteration is detected, it may be uncertain as to whether it is associated with disease or is part of normal human variation. Another limitation is that not all genetic tests are created as equals. Since genetic testing can be very expensive, some tests only look for the most common disease-causing mutations. Instead of examining the entire gene, these tests only look for specific, common mutations. If you or your family has a mutation in a portion of the gene that wasn’t tested, you will have a negative result, even though you do have a disease-associated mutation. Since genetic tests are not perfect, it is always important that genetic test results be interpreted in combination with medical and family history by a genetic counselor or other genetics-credentialed professional.

The Cost of Genetic Testing

The cost of a genetic test varies dramatically, ranging from $100 to more than $3,200. The difference stems largely from the variation in labor intensity of different tests. Some tests look for a limited number of mutations (sometimes only one) known to cause a disease. This type of test may only look at one piece of DNA code, for one specific mutation. Other genetic tests require sequencing of the entire gene, where they examine each piece of DNA code comprising the gene, which can be thousands of pieces of code.

The explosion of genetic research now taking place is expected to bring prices down and dramatically increase the number of tests available. Tests are becoming available to predict your genetic risk of more common disease, such as heart disease and diabetes. This information will help you and your health care professional develop specific strategies for prevention. Preventive efforts can include changing your lifestyle or perhaps taking certain medications, which may be tailored to your specific genetic profile, and early screening to head off the worst complications should you develop the disease.

Facts to Know

A genetic test examines some aspect of a person’s genetic makeup, either directly through gene sequencing or indirectly through the measure of marker chemicals. Such a test usually aims to determine whether a person has, is at above-average risk of having or is a carrier of a disease-causing genetic mutation.

Because the nature of genetic testing is so complex, with implications for both the person being tested and his or her family, genetic counseling is desirable before taking any genetic test and essential for proper interpretation of test results.

Genetic counselors are committed to protecting your privacy. They will not contact other family members without your permission, though they may encourage you to share results that might affect your relatives.

A maternal serum screening test indicates whether a fetus is at above-average risk of being born with certain genetic disorders, most notably Down syndrome, trisomy 18 and open neural tube defects. The test is not diagnostic and a positive result is usually followed up with a diagnostic amniocentesis or chorionic villus sampling test. Out of 1,000 serum screening tests, 50 will suggest increased risk for open neural tube defects, but only one or two of the fetuses will have such a defect. Likewise 40 of 1,000 will test positive for increased risk of Down syndrome, but only one or two will fetuses will actually have the disease.

Some genetic disorders are recessive and X-linked, which means they are caused by a mutation in a gene that resides on the X chromosome. Females have two X chromosomes, but males have only one. If a mother has a disease-linked recessive gene mutation in one of her X chromosomes, she is a carrier of the disorder but will have no or minimal symptoms herself. If she has a son, he will have a 50 percent risk of inheriting the disorder; a daughter will have a 50 percent chance of being a carrier.

In addition to disorders that have surfaced in your family, you may want to consider carrier testing for genetic conditions that occur with greater frequency in your particular ethnic group. For example, Caucasians have a higher risk of cystic fibrosis, while those of African descent are at high risk of carrying a mutation that can cause sickle cell disease. A battery of tests exists for those of Ashkenazi (Eastern European) Jewish descent. Remember that the best time for carrier testing is before a pregnancy.

Children should not be screened for carrier status or for diseases that won’t trouble them until much later in life because the information is not relevant to their health care. Most geneticists and genetic counselors consider such testing unethical, since children are not in the position to make their own decisions as to whether or not they want the test (known as informed consent).

Within a family, two or more incidences of the same type of cancer or related cancers, or one at under age 50 may indicate a hereditary pattern. A genetic counselor can take a closer look at your family history to determine whether an inherited mutation appears to be responsible for the cancers in your family and can advise you as to whether testing is available.

The best-known cancer predisposition tests look for mutations in the BRCA1 and BRCA2 genes. Women with a BRCA mutation face a lifetime breast cancer risk of up to 88 percent, compared to about 13 percent in the general population, and lifetime ovarian cancer risk of up to 60 percent, compared to a population risk of about 1.4 percent.

If your family has a history of colorectal and related cancers, you may want to consider genetic counseling and risk assessment. Several colorectal cancer syndromes can be responsible for hereditary cancer risk. One such syndrome is Lynch Syndrome. The syndrome increases lifetime risk of colorectal cancer to 80 percent vs. a 5.4 percent population risk, but also boosts risk of endometrial cancer (to 60 percent), ovarian cancer (to 12 percent) and gastric cancer (to 13 percent). Those with Lynch Syndrome also face a higher risk of cancers of the kidney and ureter, brain and small bowel.

Questions to Ask

Review the following Questions to Ask about genetic testing so you’re prepared to discuss this important health issue with your health care professional.


Could my symptoms be caused by a genetic disorder? Is testing available?

Are you experienced in diagnosing and treating genetic disorders? If not can you make a referral?

How accurate is this test?

What are the risks of the test?

What information will come out of the test?

What will a positive or negative result tell me?

Is an uncertain result possible, and what would that mean?

What are my options for preventing or treating the disease if a mutation is found?

What other family members might be affected?

How do I broach the subject with them?

Could this disorder affect my children before they’re grown? Should they be tested?

What measures are in place to protect my privacy?

How often have you performed the test?

How experienced is the lab in performing this test?

How long will it take to get results back?

How could this test affect my health care?

Cancer Predisposition Testing

Does my family history suggest a pattern of inherited cancer?

Is there a test available to determine which family members are most at risk?

What are my chances of developing cancer if I test positive for a mutation?

How does my risk change with age?

What are my options if I test positive?

How frequently should I have screenings?

Are preventive measures such as surgery or pharmaceuticals available?

Carrier Screening And Preconception Counseling

Based on family history and ethnicity, which carrier tests should my partner and I consider?

What criteria are you using to determine which tests are right for us?

Would other centers recommend a different lineup of tests?

What are the options if a result suggests the possibility of having a child with a genetic disorder?

Prenatal Testing

How early or late in my pregnancy can this test be performed?

What are the risks of the test?

Is this a risk screening test or a diagnostic test?

What are the options if the test finds a problem?

Key Q&A

What is genetic testing?

A genetic test looks at a particular aspect of your genetic makeup, either directly through gene sequencing or indirectly through measure of marker chemicals. Testing may be done for a variety of purposes:

Diagnosis, to determine if a person has a genetic disorder (often performed in conjunction with analysis of symptoms)

Risk screening, to determine if a person is at increased risk of having a genetic disorder (with follow-up diagnostics usually called for if a test is positive)

Predisposition testing, to determine if a person is at higher risk of developing a particular disease later in life

Carrier testing, to determine if a person is a carrier of a disease-causing mutation and may be at risk of having a child with the disease

What does it mean if I’m a carrier for a disease?

Genes come in pairs, and a carrier of a recessive disease has one mutated, disease-causing gene and a corresponding normal gene. The normal gene compensates for the mutated copy and the person never develops the disease. If two carriers of the same disease-causing gene have a child, however, that child has a 25 percent chance of having the disease (because of a 25 percent chance of inheriting two mutated copies of the gene), a 50 percent chance of being a carrier and a 25 percent chance of not inheriting the mutation at all.

If my partner and I have carrier testing, will the results tell us whether or not our children will be affected?

In most cases, the test will provide only guidance as to your child’s risk for being born with a particular disorder or being a carrier of the disease. Because you contribute only one of the two copies you have of each gene, each child has a 50 percent chance of inheriting any particular mutation from you. Each child likewise has a 50 percent chance of inheriting any particular mutation your partner has. Thus, if you are both carriers of the same autosomal recessive disorder, each child has a 25 percent risk of being born with the disease, a 50 percent risk of being a carrier and a 25 percent chance of not inheriting a mutation at all. A genetic counselor can help you sort through the possible combinations in your situation and describe options for pregnancy planning and prenatal testing.

Why do I need a genetic counselor in addition to my doctor?

Most counselors and geneticists have extensive training and certification specifically related to genetics and genetic testing. Additionally, most physicians do not have time to spend an hour or more providing education, information collection, risk assessment and informed consent. Hence, many physicians make referrals when the issue arises. Genetic counselors usually work with geneticists (MDs or PhDs), particularly for more complex cases.

If I have a test, will I face job or insurance discrimination if the result is positive?

The Genetic Information Nondiscrimination Act of 2008 (GINA), a new federal law that protects Americans from being treated unfairly because of genetic diseases and mutations that may affect their health, was recently passed. This law specifically addresses protections in regard to health insurance and the workplace.

Why are some genetic tests so much more expensive than others?

Some tests look for mutations by actually sequencing the entire gene; these tests, which may cost more than $3,000, look for mutations by determining the exact order of the chemicals that comprise the gene and compare the order to that of a normal gene. Other, less expensive tests look for individual, commonly known disease-causing mutations. It’s like going to a grocery store. If you have never been to that store before and you are looking for a bottle of ketchup, you may go through every aisle. This is the equivalent of sequencing; looking through the entire gene for the mutation. If you have been there before and know where the ketchup is, you can go directly to the location in the store, which is like specific point mutation testingyou know exactly where the mutation is located.

A relative has canceram I at risk, too?

Your family history provides the best clues. Two or more relatives with early onset (before age 50 or 60, depending on the cancer) of related cancers or diagnosis of two or more related cancers in the same person suggest the possibility of a genetic link that could put you at risk. Related cancers are not always as obvious as you might think. For example, colon cancer and endometrial cancer can be caused by the same genetic mutation. Talk to a genetic counselor to get a better idea of your risk and find out whether predisposition testing is available.

Isn’t my health my own business? Why should my extended family be involved?

By their very nature, genetic diseases are a family affair, with mutations passed on to multiple generations. When a disease is clearly hereditary, testing positive for a disease-causing mutation or being diagnosed with the disease provides knowledge that other family members may be at risk. A genetic counselor can help you identify who may be at risk and should be notified and can help you handle the situation if there is estrangement between relatives.

What’s the difference between amniocentesis and chorionic villus sampling? How do I decide which is right for me?

Both procedures provide for diagnosis of specific chromosomal and genetic disorders in the fetus. Amniocentesis is more likely to be offered as a follow-up to an abnormal maternal serum screening test because results of the screen are obtained too late in pregnancy for CVS. However, CVS, which is done at 10 to 12 weeks gestation, or amniocentesis, are offered in the following situations:

You will be 35 or older at delivery.

A genetic disorder has surfaced on either side of the family.

You or your partner has had a previous child with a birth defect.

You and your partner are carriers of the same recessive disorder.

Both chorionic villus sampling (CVS) and amniocentesis can cause cramping, and a small number of women have miscarriages following the procedures (the risk is higher with CVS). It takes one to two weeks to get results from either test.

Amniocentesis is performed more frequently and should be the choice if you’re at risk having a child with neural tube defects. The procedure is performed at 15 to 18 weeks of pregnancy.

CVS can be performed earlier, at 10 to 12 weeks, and is popular with parents who would like to know results before the pregnancy starts to show. The procedure is not available everywhere, however.

If I get a negative result from a cancer predisposition test, can I still develop that particular kind cancer?

Yes. Your lifetime risk for breast cancer, even in the absence of a gene mutation, is about 12 percent. At least 90 percent of breast cancer is not due to a single, inherited cancer predisposition gene. A negative BRCA test result simply means you don’t face a higher-than-average risk for the disease due to a hereditary cancer syndrome.

Genetic Counseling

What Is Genetic Counseling?

Because the nature of genetic testing is so complex, with implications for both the person being tested and his or her family, genetic counseling is an important part of pre- and post-genetic testing. Unlike most medical appointments, a counseling session may be a family affair, with participation of all concerned relatives.

Read more:
Genetic Testing | HealthyWomen

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Cryonics – Wikipedia, the free encyclopedia

From Wikipedia, the free encyclopedia

Cryonics (often mistakenly called “cryogenics”) is the practice of cryopreserving humans or animals that can no longer be sustained by contemporary medicine until resuscitation may be possible in the future. The largest current practitioners are two member-owned, non-profit organizations, the Alcor Life Extension Foundation in Scottsdale, Arizona, with 74 frozen patients and the Cryonics Institute in Clinton Township, Michigan with 75.

The process is not currently reversible. Cryonics can only be performed on humans after clinical death, and a legal determination that further medical care is not appropriate (legal death). The rationale for cryonics is that the process may be reversible in the future if performed soon enough, and that cryopreserved people may not really be dead by standards of future medicine (see information theoretic death).

Cryonics is viewed with skepticism by many scientists and doctors today. However, there is a high representation of scientists among cryonics supporters.[1] Scientific support for cryonics is based on projections of future technology, especially molecular nanotechnology and nanomedicine. Some scientists believe that future medicine[2] will enable molecular-level repair and regeneration of damaged tissues and organs decades or centuries in the future. Disease and aging are also assumed to be reversible.

The central premise of cryonics is that memory, personality, and identity are stored in the structure and chemistry of the brain. While this view is widely accepted in medicine, and brain activity is known to stop and later resume under certain conditions, it is not generally accepted that current methods preserve the brain well enough to permit revival in the future. Cryonics advocates point to studies showing that high concentrations of cryoprotectant circulated through the brain before cooling can largely prevent freezing injury, preserving the fine cell structures of the brain in which memory and identity presumably reside.[3]

To its detractors, the justification for the actual practice of cryonics is unclear, given present limitations of preservation technology. Currently cells, tissues, blood vessels, and some small animal organs can be reversibly cryopreserved. Some frogs can survive for a few months in a partially frozen state a few degrees below freezing, but this is not true cryopreservation. Cryonics advocates counter that demonstrably reversible preservation is not necessary to achieve the present-day goal of cryonics, which is preservation of basic brain information that encodes memory and personal identity. Preservation of this information is said to be sufficient to prevent information theoretic death until future repairs might be possible.

Probably the most famous cryopreserved patient is Ted Williams. The popular urban legend that Walt Disney was cryopreserved is false; he was cremated, and interred at Forest Lawn Memorial Park Cemetery. Robert A. Heinlein, who wrote enthusiastically of the concept, was cremated and his ashes distributed over the Pacific Ocean. Timothy Leary was a long-time cryonics advocate, and signed up with a major cryonics provider. He changed his mind, however, shortly before his death, and so was not cryopreserved.

Cryonics has traditionally been dismissed by mainstream cryobiology, of which it is arguably a part. The reason generally given for this dismissal is that the freezing process creates ice crystals, which some scientists have claimed damage cells and cellular structures so as to render any future repair impossible. Cryonicists have long argued, however, that the extent of this damage was greatly exaggerated by the critics, presuming that some reasonable attempt is made to perfuse the body with cryoprotectant chemicals (traditionally glycerol) that inhibit ice crystal formation.

According to cryonicists, the ice crystal damage objection became moot around the turn of the millennium, when cryobiologists Greg Fahy and Brian Wowk, of Twenty-First Century Medicine, developed major improvements in cryopreservation technology, including new cryoprotectants and new cryoprotectant mixtures, greatly improving the feasibility of vitrification, and resulting in the near-elimination of ice crystal formation in the brain. Vitrification preserves tissue in a glassy rather than frozen state. In glass, molecules do not rearrange themselves into grainy crystals as they are cooled, but instead become locked together while still randomly arranged as in a fluid, forming a “solid liquid” as the temperature falls below the glass transition temperature. Alcor Life Extension Foundation has since been researching the use of these cryoprotectants, along with a new, faster cooling method, to vitrify whole human brains (neurovitrification). The Cryonics Institute (CI), uses a vitrification solution developed by its in-house cryobiologist, Dr. Yuri Pichugin. CI has developed computer-controlled cooling boxes to ensure that cooling is rapid above Tg (glass transition temperature, solidification temperature) and slow below Tg (to reduce fracturing due to thermal stress).

Current solutions being used for vitrification are stable enough to avoid crystallization even when a vitrified brain is warmed up. This has recently allowed brains to be vitrified, warmed back up, and examined for ice damage using light and electron microscopy. No ice crystal damage was found.[4][5][6] However, if the complete circulation of the protectant in the brain is compromised, protective chemicals may not be able to reach all parts of the brain, and freezing may occur either during cooling or during rewarming. Cryonicists argue, however, that injury caused during cooling might, in the future, be repairable before the vitrified brain is warmed back up, and that damage during rewarming might be prevented by adding more cryoprotectant in the solid state, or by improving rewarming methods. But even given the best vitrification that current technology allows, rewarming still does not allow revival, even if crystallization is avoided, due to the toxic effects of the cryoprotectants. Again, however, cryonicists counter that future technology might be able to overcome this difficulty, and find a way to combat the toxicity after rewarming. If, for example, the toxicity is due to denatured proteins, those proteins could be repaired or replaced.

Some critics have speculated that because a cryonics patient has been declared legally dead, their organs must be dead, and thus unable to allow cryoprotectants to reach the majority of cells. Cryonicists respond that it has been empirically demonstrated that, so long as the cryopreservation process begins immediately after legal death is declared, the individual organs (and perhaps even the patient as a whole) remain biologically alive, and vitrification (particularly of the brain) is quite feasible. This same principle is what allows organs, such as hearts, to be transplanted, even though they come from dead donors.

Cryonics procedures cannot begin until legal pronouncement of death has occurred, and pronouncement is usually based on cessation of heartbeat (only very rarely on brain activity measurements). When the heart stops beating and blood flow ceases, ischemic damage begins. Deprived of oxygen and nutrient, cells, tissues and organs begin to deteriorate. If the heart is restarted after too many minutes have passed, the reintroduced oxygen can cause even more damage due to oxidative stress, a phenomenon known as reperfusion injury. Cryonicists try to minimize ischemic and reperfusion injury by beginning cardio-pulmonary support (much like CPR) and cooling as soon as possible after pronouncement of death. Anti-clotting agents like heparin and antioxidants may be administered. Suspended Animation, Inc is a Florida company that specializes in research into, and implementation of, optimal procedures for minimizing ischemic injury in cryonics rescue.

It is universally agreed by scientists and cryonics advocates that reversing human cryopreservation is not possible with any near-term technology.[7] Those who believe that revival may someday be possible generally look toward advanced bioengineering, molecular nanotechnology, or nanomedicine as key technologies. Revival requires repairing damage from lack of oxygen, cryoprotectant toxicity, thermal stress (fracturing), and freezing in tissues that do not successfully vitrify. In many cases extensive tissue regeneration will be necessary. Hypothetical revival scenarios generally envision repairs being performed by vast numbers of microscopic organisms or devices.[8][9][10][11] These devices would restore healthy cell structure and chemistry at the molecular level, ideally before warming. More radically, mind transfer has also been suggested as a possible revival approach if and when technology is ever developed to scan the memory contents of a preserved brain.

It has often been written that cryonics revival will be a last-in-first-out (LIFO) process. In this view, preservation methods will get progressively better until eventually they are demonstrably reversible, after which medicine will begin to reach back and revive people cryopreserved by more primitive methods. Revival of people cryopreserved by the current combination of neurovitrification and deep-cooling (technically not “freezing”, as cryoprotectant inhibits ice crystallization) may require centuries, if it is possible at all.

It has been claimed that if technologies for general molecular analysis and repair are ever developed, then theoretically any damaged body could be revived. Survival would then depend on whether preserved brain information was sufficient to permit restoration of all or part of the personal identity of the original person, with amnesia being the final dividing line between life and death.

Even if cryonics were scientifically certain to work, there are social obstacles that make success uncertain. The most obvious social obstacle is the prevailing belief that cryonics cannot work, and that cryonics subjects are dead. Although a legal determination of death by contemporary medicine is necessary to implement cryonics, this determination carries with it the implication of futility. By custom and law, dead bodies are objects, not persons with rights or protections. This removal of personhood is a cultural obstacle not faced by living people with even the poorest prognosis. For this reason, cryonics advocates call cryonics subjects patients and argue that morally they shouldnt be considered dead, even though that is their status under present law.

A related question is why future society would want to care for or revive dead people. Cryonicists note that a subset of society already cares for cryonics patients, and has done so for decades. It is assumed that should revival ever become possible, that same subset of society (the advocates who maintained patients long enough for revival to become possible) would pursue revival. They also believe that a future society with technology advanced enough to reverse cryopreservation would necessarily have views of life and death different from society today. They generally reject the idea that they are trying to “raise the dead”, viewing cryonics instead as a highly experimental medical procedure. It has also been suggested that future society may have an interest in revival of cryonics patients for intellectual or historical value, although cryonicists tend to argue that healing and recovering sick people is an ethical imperative regardless of value to society at large.

Neuropreservation is cryopreservation of the brain, usually within the head, with surgical removal and disposal of the rest of the body. Neuropreservation, sometimes called neuro, is one of two distinct preservation options in cryonics, the other being “whole body” preservation.

Neuropreservation is motivated by the fact that the brain is the primary repository of memory and personal identity. (For instance, spinal cord injury victims, organ transplant patients, and amputees appear to retain their personal identity.) It is also motivated by the belief that reversing any type of cryonic preservation is so difficult and complex that any future technology capable of it must by its nature be capable of generalized tissue regeneration, including regrowth of a new body around a repaired brain. Some suggested revival scenarios for whole body patients even involve discarding the original body and regenerating a new one because tissues are so badly damaged by the preservation process. These considerations, along with lower costs, easier transportation in emergencies, and the specific focus on brain preservation quality, have motivated many cryonicists to choose neuropreservation.

The advantages and disadvantages of neuropreservation are often debated among cryonics advocates. Critics of neuropreservation note that the body is a record of much life experience, including learned motor skills. While few cryonicists doubt that a revived neuro patient would be the same person, there are wider questions about how a regenerated body might feel different from the original.[12] Partly for these reasons (as well as for better public relations), the Cryonics Institute preserves only whole bodies. Some proponents of neuropreservation agree with these concerns, but still feel that lower costs and better brain preservation justify preserving only the brain. About three-quarters of the patients stored at Alcor are “neuros”.

Although media sometimes report that cloning is expected to regrow new bodies, cryonics experts generally dismiss cloning as a primitive technology that will be long obsolete before any kind of revival becomes possible. Similarly, although neurosurgeon Robert J. White proved[13] that body transplants were possible in primates, transplantation is dismissed in favor of tissue regeneration as the preferred method for treating neuropreservation and other trauma in future medicine.

Costs of cryonics vary greatly, ranging from $28,000 for whole body cryopreservation by the Cryonics Institute, to $80,000 for neuropreservation by Alcor, or $150,000 for whole body cryopreservation by Alcor or the American Cryonics Society. To some extent these cost differences reflect differences in how fees are quoted. The Cryonics Institute fee doesnt include standby (a team that begins procedures at bedside), transportation costs, or funeral director expenses outside of Michigan, which must be purchased as extras. CI Members wanting Standby and Transport from cryonics professionals can contract for additional payment to the Florida-based company Suspended Animation, Inc.

While cryonics is sometimes suspected of being greatly profitable, the high expenses of doing cryonics are well documented.[14] The expenses are comparable to major transplant surgeries. The largest single expense, especially for whole body cases, is the money that must be set aside to generate interest to pay for maintenance in perpetuity.

The most common method of paying for cryonics is life insurance, which spreads the cost over many years. Cryonics advocates are quick to point out that such insurance is especially affordable for young people. It has been claimed that cryonics is affordable for the vast majority of people in the industrialized world who really want it and plan for it.

Cryonics is based on a view of dying as a process that can be stopped in the minutes, and perhaps hours, following clinical death. If death is not an event that happens suddenly when the heart stops, this raises philosophical questions about what exactly death is. In 2005 an ethics debate in the medical journal, Critical Care, noted few if any patients pronounced dead by todays physicians are in fact truly dead by any scientifically rigorous criteria.[15] Cryonics proponent Thomas Donaldson has argued that death based on cardiac arrest or resuscitation failure is a purely social construction used to justify terminating care of dying patients.[16] In this view, legal death and its aftermath are a form of euthanasia in which sick people are abandoned. Philosopher Max More suggested a distinction between death associated with circumstances and intention versus death that is absolutely irreversible.[17] Absolutely irreversible death has also been called information-theoretic death. Bioethicist James Hughes has written that increasing rights will accrue to cryonics patients as prospects for revival become clearer, noting that recovery of legally dead persons has precedent in the discovery of missing persons.[18]

Ethical and theological opinions of cryonics tend to pivot on the issue of whether cryonics is regarded as interment or medicine. If cryonics is interment, then religious beliefs about death and afterlife may come into consideration. Resuscitation may be deemed impossible by those with religious beliefs because the soul is gone, and according to most religions only God can resurrect the dead. Expensive interment is seen as a waste of resources. If cryonics is regarded as medicine, with legal death as a mere enabling mechanism, then cryonics is a long-term coma with uncertain prognosis. It is continuing to care for sick people when others have given up, and a legitimate use of resources to sustain human life. Cryonics advocates complain that theological dismissal of cryonics because it is interment is a circular argument because calling cryonics “interment” presumes that cryonics cannot work.[19] They believe future technical advances will validate their view that cryonics patients are recoverable, and therefore never really dead.

Alcor has published a vigorous Christian defense of cryonics,[20] including excerpts of a sermon by Lutheran Reverend Kay Glaesner. Noted Christian apologist John Warwick Montgomery has defended cryonics.[21] In 1969, a Roman Catholic priest consecrated the cryonics capsule of Ann DeBlasio, one of the first cryonics patients. In 2002, a Muslim cleric indicated in a media interview that cryonics would be compatible with Islam if it were medicine.

Benjamin Franklin suggested in a famous 1773 letter[22] that it might be possible to preserve human life in a suspended state for centuries. However, the modern era of cryonics began in 1962 when Michigan college physics teacher Robert Ettinger proposed in a privately published book, The Prospect of Immortality,[23] that freezing people may be a way to reach future medical technology. Even though freezing a person is apparently fatal, Ettinger argued that what appears to be fatal today may be reversible in the future. He applied the same argument to the process of dying itself, saying that the early stages of clinical death may be reversible in the future. Combining these two ideas, he suggested that freezing recently deceased people may be a way to save lives.

Slightly before Ettingers book was complete, Evan Cooper[24] (writing as Nathan Duhring) privately published a book called Immortality: Physically, Scientifically, Now that independently suggested the same idea. Cooper founded the Life Extension Society in 1965 to promote freezing people. Ettinger came to be credited as the originator of cryonics, perhaps because his book was republished by Doubleday in 1964 on recommendation of Isaac Asimov and Fred Pohl, and received more publicity. Ettinger also stayed with the movement longer. Nevertheless, cryonics historian R. Michael Perry has written Evan Cooper deserves the principal credit for forming an organized cryonics movement.[25]

The actual word cryonics was invented by Karl Werner in 1965 in conjunction with the founding of the Cryonics Society of New York (CSNY) by Curtis Henderson and Saul Kent that same year. This was followed by the founding of the Cryonics Society of Michigan (CSM) and Cryonics Society of California (CSC) in 1966, and Bay Area Cryonics Society (BACS) in 1969 (renamed the American Cryonics Society, or ACS, in 1985). CSM eventually became the Immortalist Society, a non-profit affiliate of the Cryonics Institute (CI), a cryonics service organization founded by Robert Ettinger in 1976, now the second-largest cryonics organization.

Although there was at least one earlier aborted case, it is generally accepted that the first person frozen with intent of future resuscitation was Dr. James Bedford, a 73-year-old psychology professor frozen under crude conditions by CSC on January 12, 1967. The case made the cover of a limited print run of Life Magazine before the presses were stopped to report the death of three astronauts in the Apollo 1 fire instead.

Cryonics suffered a major setback in 1979 when it was discovered that nine bodies stored by CSC in a cemetery in Chatsworth, California, thawed due to depletion of funds.[26] Some of the bodies had apparently thawed years earlier without notification. The head of CSC was sued, and negative publicity slowed cryonics growth for years afterward. Of seventeen documented cryonics cases between 1967 and 1973, only James Bedford remains cryopreserved today. Strict financial controls and requirements adopted in response to the Chatsworth scandal have resulted in the successful maintenance of almost all cryonics cases since that era.

The largest cryonics organization today was established by Fred and Linda Chamberlain in 1972 as the Alcor Society for Solid State Hypothermia (ALCOR). In 1977 the name was changed to the Alcor Life Extension Foundation. In 1982, the Institute for Advanced Biological Studies (IABS) founded by Mike Darwin and Steve Bridge in Indiana merged with Alcor. By combining Darwins technical and communications skills with those of medical scientist Jerry Leaf, this merger is generally regarded as a key event that allowed Alcor to attract a critical mass of knowledgeable people, eventually moving Alcor to a leading position in the field.

During the 1980s Darwin worked with UCLA cardiothoracic surgery researcher Jerry Leaf at Alcor to develop a medical model for cryonics procedures. Prior to Leaf and Darwin, cryonics preparation was little more than a mortuary procedure in which cryoprotectant chemicals were substituted for embalming fluid. Leaf and Darwin showed that CPR and medications applied immediately after cardiac arrest, followed by cardiopulmonary bypass and thoracic surgery for access to major blood vessels, could greatly reduce ischemic injury (injury caused by stopped blood flow) in cryonics patients. They pioneered the cryonics procedure now known as a standby, in which a stabilization team stands by to institute life support procedures at the bedside of a cryonics patient as soon as possible after the heart stops. While supporting blood circulation and oxygenation of cryonics patients was first proposed by Ettinger, and the Cryonics Society of Michigan had a Westinghouse Iron Heart for this purpose as early as the late 1960s, the first consistent documented use of such procedures was in the 1980s.

Cryonics received new support in the 1980s when MIT engineer Eric Drexler started publishing papers and books foreseeing the new field of molecular nanotechnology. His 1986 book, Engines of Creation, included an entire chapter on cryonics applications.[27] Cryonics advocates saw the nascent field of nanotechnology as vindication of their long held view that molecular repair of injured tissue was theoretically possible.[28]

Nanotechnology has also been the cause of controversy within the cryonics field, with some cryonics advocates arguing that sophisticated preservation methods arent necessary because nanotechnology is necessary and sufficient for cryonics to work. Critics countered that believing nanotechnology is necessary and sufficient without regard to preservation quality is more religion than science. The simultaneous advent of Leaf and Darwins medical model of cryonics, and the nanotechnology repair paradigm, polarized cryonics into two schools of thought that persist to the present day.[29] One school tends to believe that simple inexpensive procedures administered by morticians are sufficient, while the other advocates monitoring and maintaining viability by contemporary medical methods as far as possible into the procedure, with reversible suspended animation as an ultimate goal.

In the late 1980s a nexus of favorable circumstances, including technical progress, support from nanotechnology experts, and effective communications, led to a period of rapid growth, especially of Alcor. Alcors membership expanded ten-fold within a decade, with a 30% annual growth rate between 1988 and 1992.

Alcor was disrupted by political turmoil in 1993 when a group of activists left to start the CryoCare Foundation,[30] and associated for-profit companies CryoSpan, Inc. (headed by Paul Wakfer) and BioPreservation, Inc.[31] (headed by Mike Darwin). Darwin and collaborators made many technical advances during this time period, including a landmark study documenting high quality brain preservation by freezing with high concentrations of glycerol.[32] CryoCare ceased operations in 1999 when they were unable to renew their service contract with BioPreservation. CryoCares two patients stored at CryoSpan were transferred to Alcor. Several ACS patients stored at CryoSpan were transferred to CI.

There have been numerous, often transient, for-profit companies involved in cryonics. For-profit companies were often paired or affiliated with non-profit groups they served. Some of these companies, with non-profits they served in parentheses, were Cryonic Interment, Inc. (CSC), Cryo-Span Corporation (CSNY), Cryo-Care Equipment Corporation (CSC and CSNY), Manrise Corporation (Alcor), CryoVita, Inc. (Alcor), BioTransport, Inc. (Alcor), Trans Time, Inc.[33] (BACS), Soma, Inc. (IABS), CryoSpan, Inc. (CryoCare and ACS), BioPreservation, Inc. (CryoCare and ACS), Kryos, Inc. (ACS), Suspended Animation, Inc.[34] (CI, ACS, and Alcor). Only Trans Time and Suspended Animation still exist. Apparently none of the companies were ever profitable. The cryonics field seems to have largely consolidated around three non-profit groups, Alcor, Cryonics Institute (CI), and the American Cryonics Society (ACS) all deriving significant income from bequests and donations.

As research in the 1990s revealed in greater detail the damaging effects of freezing, there was a trend to use higher concentrations of glycerol cryoprotectant to prevent freezing injury. In 2001 Alcor began using vitrification (a technology borrowed from mainstream organ preservation research) in an attempt to completely prevent ice formation during cold preservation. Because vitrification technology could then only be applied to the head, heads and bodies were sometimes separated to optimize preservation of the brain, causing much public confusion.

In 2005 Alcor began applying vitrification (or attempted vitrification[35]) treatment to the whole body simultaneously without removal of the head. In the same year, the Cryonics Institute began using a new procedure in which the head was vitrified while still attached to the body, which was frozen without any cryoprotectant.[36] A year later the Cryonics Institute began perfusing the body with ethylene glycol.[37]

When the baseball star Ted Williams was cryopreserved by Alcor in 2002 a family dispute arose as to whether Ted had really wanted to be cryopreserved. Following a July, 2003 Sports Illustrated article claiming that Alcor had mishandled Ted Williams,[38][39][40] Alcor had to fight for its existence in the Arizona legislature.[41] At minimum, Alcor could have been denied use of the Uniform Anatomical Gift Act, which could have impaired its ability to gain rapid access to cryonics patients. Despite not being responsible for Ted Williams, the media blitz resulted in the Cryonics Institute (CI) being placed under a “Cease and Desist” order by the State of Michigan for six months. Finally the Michigan government decided to regulate CI as a cemetery.

Alcor currently maintains about 75 cryonics patients in Scottsdale, Arizona. The Cryonics Institute also maintains about 75 human patients (along with about 40 pets) at its Clinton Township, Michigan facility. There are support groups in Europe, Canada, United Kingdom, and Australia. There is also a small cryonics facility reported to exist in Russia storing two neuropatients called KrioRus, and plans for a facility in Australia.

Procedures similar to cryonics have been featured in innumerable science fiction stories to aid space travel, or as means to transport a character from the past into the future. In addition to accomplishing whatever the character’s primary task is in the future, he or she must cope with the strangeness of a new world, which may contain only traces of their previous surroundings. This prospect of alienation is often cited as a major reason for the unpopularity of cryonics.

Relatively few stories have been published concerning the primary objective and definition of cryonics, which is medical time travel. Novels with this theme include the national best-seller The First Immortal by James Halperin, The Age of the Pussyfoot by Fred Pohl, Tomorrow and Tomorrow by Charles Sheffield, Chiller by Sterling Blake (aka Gregory Benford), Ralphs Journey by David Pizer, and Formerly Brandewyne by Jude Liebermann. The novel Fiasco by Stanisaw Lem raised the question of whether a person cryopreserved for centuries and then revived with amnesia is still the same person. A 1931 short story by Neil R. Jones called The Jameson Satellite has been credited with giving Robert Ettinger the seed of the idea of cryonics when he was a teenager.

Movies featuring cryonics for medical purposes include the Woody Allen comedy, Sleeper, and the films Late for Dinner and Abre los Ojos (remade as Vanilla Sky). The Austin Powers series of films use cryonics as a humorous effect and as one of the main basis in the storyline . One of the most famous movies regarding a cryonics-like process was 1992’s Forever Young, starring Mel Gibson. Although not about cryonics per se, the Ron Howard film Cocoon has been hailed by cryonics advocates as expressing the values motivating cryonics better than any other film.[42]

On television, producer David E. Kelley wrote well-researched and essentially accurate portrayals of cryonics for the T.V. shows L.A. Law (1990 episode[43]), Picket Fences (1994 episode[44]), and Boston Legal (2005 episode[45]). In each case, there was a dying plaintiff petitioning a court for the right to elective cryopreservation. The episode “The Neutral Zone” from the first season of Star Trek: The Next Generation also featured three cryopreserved people in an ancient spacecraft. They had legally died in the 20th century, but were viable and recoverable by 24th century technology. The 1987 episode of Miami Vice “The Big Thaw” featured a cryopreserved reggae singer whose wife wants his revival stopped so she can inherit his estate. The episode “When We Dead Awaken” of seaQuest DSV features Lieutenant James Brody’s mother having been placed in cryonic stasis following a terminal infection. Cryonics was also satirized by the comedy cartoon series Futurama, in which the character, Philip J. Fry, is accidentally cryopreserved at the turn of the millennium on December 31st 1999, and revived on December 31st 2999, a thousand years later.

Comic books also feature characters that have been affected by cryonics. Jean Grey, a superheroine from Uncanny X-Men, had been revived after her body was cryonically stored due to a fatal attack from Sentinels. The future society depicted in Warren Ellis’s series Transmetropolitan includes ‘revivals,’ that is, individuals who had been cryonically preserved in centuries past and then revived. Many revivals are psychologically unprepared for a society so radically different from the one they had known and are consequently unable to care for themselves.

Songs about cryonics include “Crionics” by Slayer (from the album Show No Mercy) and “Gelid Remains” by Demolition Hammer (from the album “Tortured Existence”).

Cryonicists have been able to form cryonics societies in highly populated areas (see history section), have regular meetings, publish magazines and hold conferences. Saul Kent and Evan Cooper as well as Fred and Linda Chamberlain were active in organizing cryonics conferences in the early years of cryonics. The magazines of the cryonics organizations have also helped keep members of the cryonics community informed about events and common problems. On July 24, 1988 a Ph.D. in computer science named Kevin Brown started an electronic mailing list called CryoNet[46] that became a powerful tool of communication for the cryonics community. Numerous other mailing lists and web forums for discussing cryonics and the affairs of particular organizations have since appeared, but CryoNet remains a central point of contact for cryonicists.

Cryonicists have also had a common jargon, including their use of the words patient, death, deanimation and suspension. The phrase cryonic suspension to describe cryopreservation is falling into disfavor, partly because cryopreservation is not really suspended animation and human bodies or heads are not buoyant enough in liquid nitrogen to be suspended. As in other subcultures, some members of the community can have strong feelings about the use of “politically correct” cryonics language.

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Cryonics – Wikipedia, the free encyclopedia

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Prenatal Genetic Screening Tests – ACOG


Prenatal genetic testing gives parents-to-be information about whether their fetus has certain genetic disorders.

Genetic disorders are caused by changes in a persons genes or chromosomes. Aneuploidy is a condition in which there are missing or extra chromosomes. In a trisomy, there is an extra chromosome. In a monosomy, a chromosome is missing. Inherited disorders are caused by changes in genes called mutations. Inherited disorders include sickle cell disease,cystic fibrosis, TaySachs disease, and many others. In most cases, both parents must carry the same gene to have an affected child.

There are two general types of prenatal tests for genetic disorders:

Both screening and diagnostic testing are offered to all pregnant women.

Screening tests can tell you your risk of having a baby with certain disorders. They include carrier screening and prenatal genetic screening tests:

First-trimester screening includes a test of the pregnant womans blood and an ultrasound exam. Both tests usually are performed together and are done between 10 weeks and 13 weeks of pregnancy:

Second-trimester screening includes the following tests:

The results from first- and second-trimester tests can be combined in various ways. Combined test results are more accurate than a single test result. If you choose combined screening, keep in mind that final results often are not available until the second trimester.

Cell-free DNA is the small amount of DNA that is released from the placenta into a pregnant womans bloodstream. The cell-free DNA in a sample of a womans blood can be screened for Down syndrome, trisomy 13, trisomy 18, and problems with the number of sex chromosomes. This test can be done starting at 10 weeks of pregnancy. It takes about 1 week to get the results. A positive cell-free DNA test result should be followed by a diagnostic test with amniocentesis or CVS.

The cell-free DNA screening test works best for women who already have an increased risk of having a baby with a chromosome disorder. For a woman at low risk of having a baby with a chromosome disorder, conventional screening remains the most appropriate choice. Cell-free DNA testing is not recommended for a woman carrying more than one fetus.

Results of blood screening tests for aneuploidy are reported as the level of risk that the disorder might be present:

Diagnostic testing with CVS or amniocentesis that gives a more definite result is an option for all pregnant women. Your obstetrician or other health care professional, such as a genetic counselor, will discuss what your screening test results mean and help you decide the next steps.

With any type of testing, there is a possibility of false-positive results and false-negative results. A screening test result that shows there is a problem when one does not exist is called a false-positive result. A screening test result that shows there is not a problem when one does exist is called a false-negative result. Your health care professional can give you information about the rates of false-positive and false-negative results for each test.

It is your choice whether to have prenatal testing. Your personal beliefs and values are important factors in the decision about prenatal testing.

It can be helpful to think about how you would use the results of prenatal screening tests in your pregnancy care. Remember that a positive screening test tells you only that you are at higher risk of having a baby with Down syndrome or another aneuploidy. A diagnostic test should be done if you want to know a more certain result. Some parents want to know beforehand that their baby will be born with a genetic disorder. This knowledge gives parents time to learn about the disorder and plan for the medical care that the child may need. Some parents may decide to end the pregnancy in certain situations.

Other parents do not want to know this information before the child is born. In this case, you may decide not to have follow-up diagnostic testing if a screening test result is positive. Or you may decide not to have any testing at all. There is no right or wrong answer.

Amniocentesis: A procedure in which a needle is used to withdraw and test a small amount of amniotic fluid and cells from the sac surrounding the fetus.

Aneuploidy: Having an abnormal number of chromosomes.

Carrier Screening: A test done on a person without signs or symptoms to find out whether he or she carries a gene for a genetic disorder.

Cell: The smallest unit of a structure in the body; the building blocks for all parts of the body.

Chorionic Villus Sampling (CVS): A procedure in which a small sample of cells is taken from the placenta and tested.

Chromosomes: Structures that are located inside each cell in the body and contain the genes that determine a persons physical makeup.

Cystic Fibrosis: An inherited disorder that causes problems in digestion and breathing.

Diagnostic Tests: Tests that look for a disease or cause of a disease.

DNA: The genetic material that is passed down from parents to offspring. DNA is packaged in structures called chromosomes.

Down Syndrome: A genetic disorder that causes abnormal features of the face and body, medical problems such as heart defects, and intellectual disability. Most cases of Down syndrome are caused by an extra chromosome 21 (trisomy 21). Many children with Down syndrome live to adulthood.

Fetus: The stage of prenatal development that starts 8 weeks after fertilization and lasts until the end of pregnancy.

Genes: Segments of DNA that contain instructions for the development of a persons physical traits and control of the processes in the body. It is the basic unit of heredity and can be passed down from parent to offspring.

Genetic Counselor: A health care professional with special training in genetics and counseling who can provide expert advice about genetic disorders and prenatal testing.

Genetic Disorders: Disorders caused by a change in genes or chromosomes.

Inherited Disorders: Disorders caused by a change in a gene that can be passed down from parent to children.

Monosomy: A condition in which there is a missing chromosome.

Mutations: Permanent changes in genes that can be passed on from parent to child.

Neural Tube Defects: Birth defects that result from incomplete development of the brain, spinal cord, or their coverings.

Nuchal Translucency Screening: A test in which the size of a collection of fluid at the back of the fetal neck is measured by ultrasound to screen for certain birth defects, such as Down syndrome, trisomy 18, or heart defects.

Obstetrician: A physician who specializes in caring for women during pregnancy, labor, and the postpartum period.

Placenta: Tissue that provides nourishment to and takes waste away from the fetus.

Screening Tests: Tests that look for possible signs of disease in people who do not have symptoms.

Sex Chromosomes: The chromosomes that determine a persons sex. In humans, there are two sex chromosomes, X and Y. Females have two X chromosomes and males have an X and a Y chromosome.

Sickle Cell Disease: An inherited disorder in which red blood cells have a crescent shape, causing chronic anemia and episodes of pain. It occurs most often in African Americans.

TaySachs Disease: An inherited birth defect that causes intellectual disability, blindness, seizures, and death, usually by age 5 years. It most commonly affects people of Eastern and Central European Jewish, Cajun, and French Canadian descent, but it can occur in anyone.

Trimester: One of the three 3-month periods into which pregnancy is divided.

Trisomy: A condition in which there is an extra chromosome.

Trisomy 13 (Patau Syndrome): A chromosomal disorder that causes serious problems with the brain and heart as well as extra fingers and toes, cleft palate and lip, and other defects. Most infants with trisomy 13 die within the first year of life.

Trisomy 18 (Edwards Syndrome): A chromosomal disorder that causes severe intellectual disability and serious physical problems such as a small head, heart defects, and deafness. Most of those affected with trisomy 18 die before birth or within the first month of life.

Ultrasound Exams: Tests in which sound waves are used to examine internal structures. During pregnancy, they can be used to examine the fetus.

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Prenatal Genetic Screening Tests – ACOG

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Foundation Fighting Blindness Celebrates Historic FDA …

Foundations early investment in LUXTURNA boosts vision-restoring treatment for people with RPE65 mutations and will help advance other gene therapies currently in development.

(Columbia, MD) Todays U.S. Food and Drug Administration (FDA) approval of voretigene neparvovec, to be marketed as LUXTURNA, will be life-changing for patients with vision loss due to mutations in the RPE65 gene and a watershed moment for the inherited retinal disease field, says the Foundation Fighting Blindness. The Foundation was an important early investor in LUXTURNA, providing $10 million in critical seed funding for the therapy.

The groundbreaking treatment is the first gene therapy for the eye and for any inherited disease to be approved by the FDA. The treatment restores vision by delivering working copies of the RPE65 gene directly into the retina, thereby compensating for the nonfunctional, mutated genes.

We are thrilled for the patients whose lives will change dramatically because of this treatment, says David Brint, Foundation Fighting Blindness chairman. We are also pleased to have this concrete example of the strength of the Foundations strategy of identifying and investing early in promising treatments. Doing so helps attract industry investment that can usher promising treatments through clinical trials and ultimately FDA approval.

LUXTURNA is the result of more than two decades of research and development at the University of Florida, the University of Pennsylvania, Childrens Hospital of Philadelphia, and Spark Therapeutics. The Foundation Fighting Blindness seed investment allowed researchers to take the therapy through the early investigational stages critical to any treatment development.

LUXTURNA will be life-changing for people with an inherited retinal disease caused by RPE65 mutations. For them, the treatment means a life of independence. Also important is the momentum this approval provides to other gene-based therapies for the eye and other diseases now in the clinic, says Benjamin Yerxa, PhD, Foundation CEO.

Twenty-four-year-old Katelyn Corey participated in the clinical trial that led to LUXTURNAs FDA approval. Before the trial, failing vision was causing her to consider giving up her lifelong dream of completing college and working in science. But, in December 2013, she received the RPE65 gene therapy in Sparks Phase 3 clinical trial, and her education and science career got quickly back on track.

Within days, I could see vibrant colors. I could even see the Philadelphia City Hall clock tower at night, she says. Also, now, I can go to a restaurant and see everything by candlelight, and I can see stars in the night sky. Corey recently earned a masters degree in epidemiology and now works as a research analyst for the U.S. Department of Veterans Affairs.

An additional noteworthy milestone is the demonstrated value of a new clinical endpoint devised by the Spark Therapeutics team to measure LUXTURNAs impact. The new measure, a multi-luminance mobility test (informally called the maze), measured the impact of the treatment beyond the traditional visual acuity measure the eye chart. This new clinical endpoint moves vision measures beyond the eye chart, which is particularly significant for people with low or no vision.

Spark Therapeutics, which holds the biologics license for LUXTURNA and conducted the clinical trials that showed its safety and efficacy, will also manage the treatment rollout. Spark has announced that in order to ensure the treatment is safely administered, it will only be available through a small number of centers of clinical excellence across the country. Spark has also expressed its commitment to educating third-party payers about the value of LUXTURNA and to working to help ensure treatment access to all eligible patients.

Anyone in need of more information about LUXTURNA should contact Spark Therapeutics at 1-833-SPARK-PS (833-772-7577). Another resource for information is Sparks website:

# # #

The Foundation Fighting Blindness is the worlds leading private funder of research on potential treatments and cures for inherited retinal degenerative diseases and currently funds 77 research projects overseen by 65 investigators at 67 universities, hospitals, and affiliated eye institutes worldwide. The Foundation was established in 1971 and has since raised more than $725 million toward its mission to prevent, treat, and cure blindness caused by inherited retinal diseases. In excess of 10 million Americans, and millions more worldwide, experience vision loss due to retinal degenerations. Through its support of focused and innovative science, the Foundation drives the research that has and will continue to provide treatments and cures for people affected by retinitis pigmentosa, LCA, macular degeneration, Usher syndrome, and other retinal diseases.

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Foundation Fighting Blindness Celebrates Historic FDA …

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Gene Therapy Clinical Trials Databases

Wiley database on Gene Therapy Trials WorldwideThe Journal of Gene Medicine clinical trial site presenting charts and tables showing the number of approved, ongoing or completed clinical trials worldwide. Data is available for: Continents and countries where trials are being performed; Indications addressed; Vectors used; Gene types transferred; Phases of clinical trials; Number of trial approved/initiated 1989-2007.A searchable database is also present with detailed information on individual trials. The data are compiled and are regularly updated from official agency sources (RAC, GTAC etc..), the published literature, presentations at conferences and from information kindly provided by investigators or trial sponsors themselves. Beware that information on some trials is incomplete as some countries regulatory agencies simply do not disclose any information.See also: Gene therapy clinical trials worldwide to 2012 – an update. J. Gene Med. 2013 Feb;15(2) database on clinical trials performed in the US and worldwideThe U.S. National Institutes of Health, through its National Library of Medicine, has developed to provide patients, family members and members of the public current information about clinical research studies. The database is a registry of federally and privately supported clinical trials conducted in the United States and around the world. gives you information about a trial’s purpose, who may participate, locations, and phone numbers for more details.>> Overview of gene therapy trials recently received in the last 30 days. International Standard Randomised Controlled Trial Number RegisterThe ISRCTN Register is a register containing a basic set of data items on clinical trials that have been assigned an ISRCTN. Records are never removed from the ISRCTN Register (except in cases of duplications), which ensures that basic information about trials registered with an ISRCTN will always be available. The ISRCTN Register complies with requirements set out by the World Health Organization (WHO) International Clinical Trials Registry Platform (ICTRP) and the International Committee of Medical Journal Editors (ICMJE) guidelines, and complies with the WHO 20-item Trial Registration Data Set. Selected Gene Transfer and Therapy References databaseThe database is managed by Clinigene. The aim of this webpage is to provide database of selected references in the field of Gene Transfer and Therapy, addressing technological issues, applications, ethics and regulation from four main databases: Quality/Efficacy; Safety (pre-clinical); Adverse events (clinical); Important clinical trials. The database is open to the public and it is by no means intended to be either complete or comprehensive. Published Human Gene Therapy Clinical Trials database The database is maintained by Clinigene. The aim of this website is to provide a complete database of all published clinical gene therapy trials carried out worldwide. At this point in time the database is nearing completion and is open to the public.

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Gene Therapy Clinical Trials Databases

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STEM CELLS – Issue – Wiley Online Library


Stem Cells May Help Improve Corneal Wound Healing

Stem Cell Treatment Has Potential to Help Parkinsons Disease Unexpected Brain Area

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Video abstract from Drs. Banerjee, Surendran, Bharti, Morishita, Varshney, and Pal on their recently published STEM CELLS paper entitled, “Long non-coding RNA RP11-380D23.2 drives distal-proximal patterning of the lung by regulating PITX2 expression.” Read the paper here.

Video abstract from Drs. Sayed, Ospino, Himmati, Lee, Chanda, Mocarski, and Cooke on their recently published STEM CELLS paper entitled, “Retinoic Acid Inducible Gene 1 Protein (RIG1)-like Receptor Pathway is Required for Efficient Nuclear Reprogramming.” Read the paper here.

iOS App for iPad or iPhone

Download the STEM CELLS app from the Apple store

New Android App Available!

Download the STEM CELLS app from the Google Play Store

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STEM CELLS – Issue – Wiley Online Library

Recommendation and review posted by simmons

Induced Pluripotent Stem Cells for Cardiovascular …

Nearly 500,000 people in the US die of sudden cardiac death each year, and long QT syndrome (LQTS) is a major form of sudden cardiac death. LQTS can be triggered by drug exposure or stresses. Drug-induced LQTS is the single most common reason for drugs to be withdrawn from clinical trials, causing major setbacks to drug discovery efforts and exposing people to dangerous drugs. In most cases, the mechanism of drug-induced LQTS is unknown. However, there are genetic forms of LQTS that should allow us to make iPS cellderived heart cells that have the key features of LQTS. Our objective is to produce a cell-based test for LQTS with induced pluripotent stem (iPS) cell technology, which allows adult cells to be reprogrammed to be stem celllike cells.Despite the critical need, current tests for drug-induced LQTS are far from perfect. As a result, potentially unsafe drugs enter clinical trials, endangering people and wasting millions of dollars in research funds. When drugs that cause LQTS, such as terfenadine (Seldane), enter the market, millions of people are put at serious risk. Unfortunately, it is very difficult to know when a drug will cause LQTS, since most people who develop LQTS have no known genetic risk factors. The standard tests for LQTS use animal models or hamster cells that express human heart genes at high levels. Unfortunately, cardiac physiology in animal models (rabbits and dogs) differs from that in humans, and hamster cells lack many key features of human heart cells. Human embryonic stem cells (hESCs) can be differentiated into heart cells, but we do not know the culture conditions that would make the assay most similar to LQTS in a living person. These problems could be solved if we had a method to grow human heart cells from people with genetic LQTS mutations, so that we know the exact test conditions that would reflect the human disease. This test would be much more accurate than currently available tests and would help enable the development of safer human pharmaceuticals.Our long-term goal is to develop a panel of iPS cell lines that better represent the genetic diversity of the human population. Susceptibility to LQTS varies, and most people who have life-threatening LQTS have no known genetic risk factors. We will characterize iPS cells with well-defined mutations that have clinically proven responses to drugs that cause LQTS. These iPS cell lines will be used to refine testing conditions. To validate the iPS cellbased test, the results will be directly compared to the responses in people. These studies will provide the foundation for an expanded panel of iPS cell lines from people with other genetic mutations and from people who have no genetically defined risk factor but still have potentially fatal drug-induced LQTS. This growing panel of iPS cell lines should allow for testing drugs for LQTS more effectively and accurately than any current test.To meet these goals, we made a series of iPS cells that harbor different LQTS mutations. These iPS cells differentiate into beating cardiomyocytes. We are now evaluating these LQTS cell lines in cellular assays. We are hopeful that our studies will meet or exceed all the aims of our original proposal.

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Induced Pluripotent Stem Cells for Cardiovascular …

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Stem Cell Therapy for Duchenne Muscular Dystrophy …

Duchenne muscular dystrophy (DMD) is the most common and serious form of muscular dystrophy. One out of every 3500 boys is born with the disorder, and it is invariably fatal. Until recently, there was little hope that the widespread muscle degeneration that accompanies this disease could be combated.

However, stem cell therapy now offers that hope. Like other degenerative disorders, DMD is the result of loss of cells that are needed for correct functioning of the body. In the case of DMD, a vital muscle protein is mutated, and its absence leads to progressive degeneration of essentially all the muscles in the body.

To begin to approach a therapy for this condition, we must provide a new supply of stem cells that carry the missing protein that is lacking in DMD. These cells must be delivered to the body in such a way that they will engraft in the muscles and produce new, healthy muscle tissue on an ongoing basis.

We now possess methods whereby we can generate stem cells that can become muscle cells out of adult cells from skin or fat by a process known as reprogramming. Reprogramming is the addition of genes to a cell that can dial the cell back to becoming a stem cell. By reprogramming adult cells, together with addition to them of a correct copy of the gene that is missing in DMD, we can potentially create stem cells that have the ability to create new, healthy muscle cells in the body of a DMD patient. This is essentially the strategy that we are developing in this proposal.

We start with mice that have a mutation in the same gene that is affected in DMD, so they have a disease similar to DMD. We reprogram some of their adult cells, add the correct gene, and grow the cells in incubators in a manner that will produce muscle stem cells. The muscle stem cells can be identified and purified by using an instrument that detects characteristic proteins that muscles make.

The corrected muscle stem cells are transplanted into mice with DMD, and the ability of the cells to generate healthy new muscle tissue is evaluated. Using the mouse results as a guide, a similar strategy will then be pursued with human cells, utilizing cells from patients with DMD. The cells will be reprogrammed, the correct gene added, and the cells grown into muscle stem cells. The ability of these cells to make healthy muscle will be tested by injection into mice with DMD that are immune-deficient, so they will accept a graft of human cells.

In order to make this process into something that could be used in the clinic, we will develop standard procedures for making and testing the cells, to ensure that they are effective and safe. In this way, this project could lead to a new stem cell therapy that could improve the clinical condition of DMD patients. If we have success with DMD, similar methods could be used to treat other degenerative disorders, and perhaps even some of the degeneration that occurs during normal aging

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Stem Cell Therapy for Duchenne Muscular Dystrophy …

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Adult Stem Cells and Gene Therapy Save a Young Boy With …

When people talk about something that saved their skin, they usually mean that it helped them out of a difficult situation. But a young boy in Germany has literally had his skinand his lifesaved through the use of genetically-engineered adult stem cells.

The boy suffered from a condition called junctional epidermolysis bullosa, a severe and often lethal disease in which a mutation leaves the skin cells unable to interconnect and maintain epidermal integrity. The skin blisters and falls off, and the slightest touch or abrasion can leave a patch of skin gone and a painful, difficult-to-heal wound behind. There is no cure for the disease and little other than palliative care available for sufferers of the most severe forms.

Now researchers have combined use of adult stem cells with genetic engineering to successfully treat the young boys life-threatening condition. The boys doctors in Germany called on Dr. Michele De Luca at the University of Modena and Reggio Emilia in Italy to use a technique he has developed to correct the genetic problem and grow new skin.

Over many years, Dr. De Luca has developed a method to grow skin from a patients own epidermal adult stem cells, correct the genetic mutation in the laboratory, and use the genetically-engineered adult stem cells to grow healthy new skin. Dr. De Luca and his team took a tiny patch of skin from the boy, isolated the epidermal stem cells and corrected the genetic problem in stem cell culture. Then they grew sheets of genetically-corrected skin and transplanted them onto the boy.

Reports called the boys recovery stunning, with successful replacement of 80 percent of his skin. Before the procedure, the boys doctors tried several treatments to no avail. One doctor even said, We had a lot of problems in the first days keeping this kid alive. Yet within six months of starting the process, the boy was back in school.

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His skin has remained healthy and completely blister-free. According to the published reports now 21 months after the boys transplant, he loves to show off his new skin and is enjoying school, playing soccer, and being a normal kid. The research has also taught scientists much about the possibilities of using adult stem cells in combination with gene therapy for treatment of diseases.

LifeNews Note: File photo.

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Adult Stem Cells and Gene Therapy Save a Young Boy With …

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Development of 3D Bioprinting Techniques using Human …

In this project, we aim to develop a 3D bioprinting technology to create functional cardiac tissues via encapsulation of cardiomyocytes derived from hESCs. To further improve their viability and cardiac functionality, we are developing a new vascularization technique to enhance the cardiac tissue model through the incorporation of functional vasculature using 3D bioprinting. In Specific Aim 1, we have successfully developed and optimized a rapid 3D bioprinting technique to create biomimetic 3D micro-architectures using hyaluronic acid (HA)-based biomaterials and hESC-derived cardiomyocytes. A protocol for the synthesis of the photopolymeriable hydrogel biomaterial (hyaluronic acid-glycidyl methacrylate (HA-GM)) proposed for use with the 3D bioprinting platform has been created and refined. HA-GM chemical synthesis efficiency was evaluated. H7 human embryonic stem cells (hESC) were used. These hESC derived cardiomyoctes (hESC-CMs) were shown to be well differentiated based on examining surface markers (Nkx2.5 & cardiac troponin T) and mRNA expression (Nkx2.5, ISL1, MYL2, and MYL7). These cells have been encapsulated within a 3D vasculature pattern of photopolymerized HA-GM hydrogel biomaterial. Digital images derived from a 3D model of the heart have been printed and the direct printing of biomaterials and cell-laden materials has been successfully achieved. Fluorescent staining showed encapsulated cell survival of this structure after 2-weeks of incubation. We have successfully measured the physiological function of cells embedded within the hydrogel constructs. We assessed changes in the cell viability, alignment and function of cells within hydrogel constructs. We successfully characterized electrical function of cardiomyocytes by optical mapping of Spontaneous Beats in unpatterned and patterned tissue constructs. We further measured mechanical function in the tissue constructs by cantilever displacement. We have also measured calcium transients in our 3D printed tissue constructs by live confocal imaging at varying frequencies. In Specific Aim 2, we have created an advanced vascularization technique for 3D pre-vascularized cardiac tissues with precise control of spatial organization. Human umbilical vein endothelial cells (HUVECs) were encapsulated within a mesh of hexagonal channels and cardiomyocytes were encapsulated within islands between these channels to demonstrate the capability of spatially printing distinct cell populations into a simple prevascularized co-culture model. Cells in this bioprinted configuration showed proliferation and viability. To investigate the formation of the endothelial network, we performed immunofluorescence staining on the prevascularized tissues after 1-week culture in vitro. Human-specific CD31 staining (green) in confocal microscopy shows the conjunctive network formation of HUVECs at different patterned channel widths.

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Development of 3D Bioprinting Techniques using Human …

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Lung Institute | Stem Cell Research Study for Lung Disease

The Problem with Chronic Pulmonary Diseases

Chronic Obstructive Pulmonary Disease (COPD) is a progressive lung disorder that often occurs as a result of prolonged cigarette smoking, second-hand smoke, and polluted air or working conditions. COPD is the most prevalent form of chronic lung disease. The physiological symptoms of COPD include shortness of breath (dyspnea), cough, and sputum production, exercise intolerance and reduced Quality of Life (QOL). These signs and symptoms are brought about by chronic inflammation of the airways, which restricts breathing. When fibrotic tissues contract, the lumen is narrowed, compromising lung function. As histological studies confirm, airway fibrosis and luminal narrowing are major features that lead to airflow limitation in COPD1-3.

Today, COPD is a serious global health issue, with a prevalence of 9-10% of adults aged 40 and older4. And the prevalence of the disease is only expected to rise. Currently COPD accounts for 27% of tobacco related deaths and is anticipated to become the fourth leading cause of death worldwide by 2030 5. Today, COPD affects approximately 600 million individualsroughly 5% of the worlds population 6. Despite modern medicine and technological advancements, there is no known cure for COPD.

The difficulty in treating COPD and other lung diseases rests in the trouble of stimulating alveolar wall formation15. Until recently, treatment has been limited by two things: a lack of understanding of the pathophysiology of these disease processes on a molecular level and a lack of pharmaceutical development that would affect these molecular mechanisms. This results in treatment focused primarily in addressing the symptoms of the disease rather than healing or slowing the progression of the disease itself.

The result is that there are few options available outside of bronchodilators and corticosteroids7. Although lung transplants are performed as an alternative option, there is currently a severe shortage of donor lungs, leaving many patients to die on waiting lists prior to transplantation. Lung transplantation is also a very invasive form of treatment, commonly offering poor results, a poor quality of life with a 5-year mortality rate of approximately 50%, and a litany of health problems associated with lifelong immunosuppression13.

However, it has been shown that undifferentiated multipotent endogenous tissue stem cells (cells that have been identified in nearly all tissues) may contribute to tissue maintenance and repair due to their inherent anti-inflammatory properties. Human mesenchymal stromal cells have been shown to produce large quantities of bioactive factors including cytokines and various growth factors which provide molecular cueing for regenerative pathways. This affects the status of responding cells intrinsic in the tissue 18. These bioactive factors have the ability to influence multiple immune effector functions including cell development, maturation, and allo-reactive T-cell responses 19. Although research on the use of autologous stem cells (both hematopoietic and mesenchymal) in regenerative stem cell therapy is still in the early stages of implementation, it has shown substantive progress in treating patients with few if any adverse effects.

The Lung Institute (LI) provided treatment by harvesting autologous stem cells (hematopoietic stem cells and mesenchymal stromal cells) by withdrawing adipose tissue (fat), bone marrow or peripheral blood. These harvested cells are isolated and concentrated, and along with platelet-rich plasma, are then reintroduced into the body and enter the pulmonary vasculature (vessels of the lungs) where cells are trapped in the microcirculation (the pulmonary trap). Alternatively, nebulized stem cells are reintroduced through the airways in patients who have undergone an adipose (fat tissue) treatment.

Individuals diagnosed with COPD were tracked by the Lung Institute to measure the effects of treatment via either the venous protocol or adipose protocol on both their pulmonary function as well as their Quality of Life.

All PFTs were performed according to national practice guideline standards for repeatability and acceptability8-10. On PFTs, pre-treatment data was collected through on-site testing or through previous medical examinations by the patients primary physician (if done within two weeks). The test was then repeated by their primary physician 6 months after treatment.*

* Due to the examination information required from primary physicians, only 25 out of 100 patients are reflected in the PFT data.

Patients with progressive COPD will typically experience a steady decrease in their Quality of Life. Given this development, a patients Quality of Life score is frequently used to define additional therapeutic effects, with regulatory authorities frequently encouraging their use as primary or secondary outcomes17.

On quality of life testing, data was collected through the implementation of the Clinical COPD Questionnaire (CCQ) based survey17. The survey measured the patients self-assessed quality of life on a 0-6 scale, with adverse Quality of Life correlated in ascending numerical order. It was implemented in three stages: pre-treatment, 3-months post-treatment, and 6-months post-treatment. The survey measured two distinct outcomes: the QLS score, which measured the patients self-assessed quality of life score, and the QIS, a percentage-based measurement determining the proportion of patients within the sample that experienced QLS score improvements.

Over the duration of six months, the results of 100 patients treated for COPD through venous and adipose based therapies were tracked by the Lung Institute in order to measure changes in pulmonary function and any improvement in Quality of Life.

Of the 100 patients treated by the Lung Institute, 64 were male (64%) and 36 were female (36%). Ages of those treated range from 55-88 years old with an average age of 71. Throughout the study, 82 (82%) were treated with venous derived stem cells, while 18 (18%) were treated from stem cells derived from adipose tissue.

* The survey measured the patients self-assessed quality of life on a 0-6 scale, with adverse Quality of Life correlated in ascending numerical order.

Over the course of the study, the patient group averaged an increase of 35.5% to their Quality of Life (QLS) score within three months of treatment. While in the QIS, 84% of all patients found that their Quality of Life score had improved within three months of treatment (figure 1.3).

Within the PFT results, 48% of patients tested saw an increase of over 10% to their original pulmonary function with an average increase of 16%. During the three to six month period after treatment, patients saw a small decline in their progress, with QLS scores dropping from 35.5% to 32%, and the QIS from 84% to 77%.Fletcher and Petos work shows that patient survival rate can be improved through appropriate or positive intervention14 (figure 1.4). It remains to be seen if better quality of life will translate to longevity, but if one examines what factors allow for improved quality of life such as improvement in oxygen use, exercise tolerance, medication use, visits to the hospital and reduction in disease flare ups then one can see that quality of life improves in association with clinical improvement.

Currently the most utilized options for treating COPD are bronchodilator inhalers with or without corticosteroids and lung transplant each has downsides. Inhalers are often used incorrectly11, are expensive over time, and can only provide temporary relief of symptoms. Corticosteroids, though useful, have risk of serious adverse side effects such as infections, blood sugar imbalance, and weight gain to name a few 16. Lung transplants are expensive, have an adverse impact on quality of life and have a high probability of rejection by the body the treatment of which creates a new set of problems for patients. In contrast, initial studies of stem cells treatments show efficacy, lack of adverse side effects and may be used safely in conjunction with other treatments.

Through the data collected by the Lung Institute, developing methodologies for this form of treatment are quickly taking place as other entities of the medical community follow suit. In a recent study of regenerative stem cell therapy done by the University of Utah, patients exhibited improvement in PFTs and oxygen requirement compared to the control group with no acute adverse events12. Through the infusion of stem cells derived from the patients own body, stem cell therapy minimizes the chance of rejection to the highest degree, promotes healing and can improve the patients pulmonary function and quality of life with no adverse side effects.

Although more studies using a greater number of patients is needed to further examine objective parameters such as PFTs, exercise tests, oxygen, medication use and hospital visits, larger sample sizes will also help determine if one protocol is more beneficial than others. With deeper research, utilizing economic analysis along with longer-term follow up will answer questions on patient selection, the benefits of repeated treatments, and a possible reduction in healthcare costs for COPD treatment.

The field of Cellular Therapy and Regenerative Medicine is rapidly advancing and providing effective treatments for diseases in many areas of medicine.The Lung Institutes strives to provide the latest in safe, effective therapy for chronic lung disease and maintain a leadership role in the clinical application of these technologies.

In a landscape of scarce options and rising costs, the Lung Institute believes that stem cell therapy is the future of treatment for those suffering from COPD and other lung diseases. Although data is limited at this stage, we are proud to champion this form of treatment while sharing our findings.

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Lung Institute | Stem Cell Research Study for Lung Disease

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Crispr gene editing ready for testing in humans –

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Ever since scientists began decoding the human genome in 1990, doctors have dreamt of a new era of medicine where illness could be treated or even cured by fxing flaws in a persons DNA. Rather than using medicine to fight disease, they would be able to hack biology to combat sickness at its source.

The dream started to become a reality in 2013, when researchers demonstrated how a gene editing technique, known as Crispr-Cas9, could be used to edit living human cells, raising the possibility that a persons DNA could be altered much as text is changed by a word-processor.

Now, two biotech companies say they plan to start testing the technology in humans as early as this year.

Crispr Therapeutics has already applied for permission from European regulators to test its most advanced product, code-named CTX001, in patients suffering from beta-thalassaemia, an inherited blood disease where the body does not produce enough healthy red blood cells. Patients with the most severe form of the illness would die without frequent transfusions.

The Switzerland-based company says it also plans to seek a greenlight from the US Food and Drug Administration this year so it can trial CTX001 in people with sickle cell disease, another inherited blood disorder.

Editas Medicine, Crisprs US-based rival, says it plans to apply for permission from the FDA in the middle of the year so it can test one of its one of its own Crispr gene-editing products in patients with a rare form of congenital blindness that causes severe vision loss at birth. If the FDA agrees, it should be able to commence trials within 30 days of the application.

If those trials are successful, Crispr, Editas and a third company, Intellia Therapeutics, say they plan to study the technique in humans with a range of diseases including cancer, cystic fibrosis, haemophilia and Duchenne muscular dystrophy.

In China, where regulators have taken a more lenient approach to human trials, several studies are already under way, although they have yet to produce any conclusive data.

Crispr-Cas9 is best thought of as two technologies that make gene editing possible: Cas9 acts as a pair of molecular scissors that can snip strands of DNA, removing faulty genetic material and creating space for functioning genes to be inserted. Crispr is a kind of genetic GPS that guides those scissors to the precise location.

Katrine Bosley, chief executive of Editas, says the field of gene editing is moving at lightning speed, but that the technique will at first be limited to illnesses where there are not other good options.

That is because, as with any new technology, scientists and regulators are not fully aware of the safety risks involved. We want it to be as safe as it can, but of course there is this newness, says Ms Bosley.

Francisco Mojica at the University of Alicante, Spain becomes the first researcher to discover Crispr sequences

Alexander Bolotin at the French National Institute for Agricultural Research observes Cas9 genes in the bacteria Streptococcus thermophilus

Scientists at Danone study how Crispr techniques can help Streptococcus thermophilus, widely used in commercial yoghurt making, ward off viral attacks

Biochemists Jennifer Doudna and Emmanuelle Charpentiere show that Crispr can be used to edit DNA in test tubes

Feng Zhang of the Broad Institute reports using Crispr to edit DNA in human cells, opening the door for the tool to be used in medicine

Crispr is used to edit the genomes of everything from flies to mice

British scientists use Talen gene editing to treat a childs leukaemia

Still, Ms Bosley points out that of the more than 6,000 genetic disorders, which are the most obvious candidates for gene editing, roughly 95 per cent are untreatable. This provides plenty of areas for companies like hers to explore.

Although Crispr-Cas9 has not yet been trialled in humans in Europe or the US, the technology has already benefited medical research greatly by speeding up laboratory work. It used to take scientists several years to create a genetically modified mouse for their experiments, but with Crispr-Cas9 these transgenic mice can be produced in a few weeks.

Cellectis, a French biotech group, has used an older gene-editing technique known as Talen, to create a pioneering blood cancer treatment known as chimeric antigen receptor therapy or Car-T, which is currently being tested in humans.

Car-T products are already on the market, but rely on an expensive and laborious process that involves extracting a persons white blood cells, transporting them by aeroplane to a lab where they are re-engineered to attack cancer, before returning them and inserting them into the patient.

Cellectis hopes its approach of using gene editing to alter the cells will cut out this lengthy re-engineering process.

Some proponents of Crispr-Cas9 dismiss the Talen technique as old, slow and expensive, but Andr Choulika, Cellectis chief executive, disagrees.

We asked readers, researchers and FT journalists to submit ideas with the potential to change the world. A panel of judges selected the 50 ideas worth looking at in more detail. This fourth tranche of 30 ideas (listed below) is about the latest advances in healthcare. The fifth and final chapter, looking at Earth and the universe, will be published on March 29, 2018.

Were not talking about iPhones here, he says. Maybe [Crispr] is a new technology, its easy to design and its cheap, but who cares? This is not what the patient needs. The patient needs a super-active, super-precise product.

Amid the excitement, the nascent field of gene editing has been hampered by several setbacks. Editas had hoped to start human trials earlier, but was forced to move the date back after it encountered manufacturing delays. Crispr has lost several key executives in recent months, while Cellectis had to suspend its first trial briefly last year after a patient died.

Meanwhile, a bitter patent dispute over which academic institution discovered Crispr-Cas9, and therefore which biotech company has the rights to the patents, has cast a pall over gene editing.

The field is in its infancy and progress in any new area of science is never smooth. If gene editing lives up to its promise, it could one day save or dramatically change the lives of tens of millions of patients with hitherto untreatable diseases.

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Crispr gene editing ready for testing in humans –

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Advanced Hormone Solutions

I went in to premature menopause in 2008 and I was 38 years old at that time. My OB/GYN put me on HRT but after one year and a half, I started having palpitations and dizziness. After so medical tests, my doctors decided not to give me their HRT any longer. My OB/GYN strongly suggested to me not to take any oral hormones and I follow that recommendation for 8 years until I realized that my marriage was suffering because my libido was inexistent and having intercourse was extremely painful. That was not a good combination and I decided to start looking for getting help. I had other symptoms but after 8 years in menopause, those were manageable. So, I did some research and found Dr. Matos. Now, after two pellet therapies and a 4-week booster, I feel like a teenager. Sounds funny but it is true. Dryness is gone for good and my libido is back. I am sleeping at least 7 hours every day, I am gaining more energy, and my memory is getting stronger. Last week, I got my second pellet therapy and I have never been so excited to go to a doctors appointment in my entire live.This treatment works perfectly fine and I am encouraging my husband to give it a try.Thank you, Dr. Matos.

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Advanced Hormone Solutions

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CRISPR – YouTube

Designer babies, the end of diseases, genetically modified humans that never age. Outrageous things that used to be science fiction are suddenly becoming reality. The only thing we know for sure is that things will change irreversibly.

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Thanks to Volker Henn, James Gurney and (prefers anonymity) for help with this video!


Jeffrey Schneider, Konstantin Kaganovich, Tom Leiser, Archie Castillo, Russell Eishard, Ben Kershaw, Marius Stollen, Henry Bowman, Ben Johns, Bogdan Radu, Sam Toland, Pierre Thalamy, Christopher Morgan, Rocks Arent People, Ross Devereux, Pascal Michaud, Derek DuBreuil, Sofia Quintero, Robert Swiniarski, Merkt Kzlrmak, Michelle Rowley, Andy Dong, Saphir Patel, Harris Rotto, Thomas Huzij, Ryan James Burke, NTRX, Chaz Lewis, Amir Resali, The War on Stupid, John Pestana, Lucien Delbert, iaDRM, Jacob Edwards, Lauritz Klaus, Jason Hunt, Marcus : ), Taylor Lau, Rhett H Eisenberg, Mr.Z, Jeremy Dumet, Fatman13, Kasturi Raghavan, Kousora, Rich Sekmistrz, Mozart Peter, Gaby Germanos, Andreas Hertle, Alena Vlachova, Zdravko aek


The best book we read about the topic: GMO Sapiens

(affiliate link, we get a cut if buy the book!)

Good Overview by Wired:

timeline of computer development:

Selective breeding:


Radiation research:

inserting DNA snippets into organisms:

First genetically modified animal:

First GM patent:

chemicals produced by GMOs:

Flavr Savr Tomato:

First Human Engineering:

glowing fish:


HIV cut from cells and rats with CRISPR:

first human CRISPR trials fighting cancer:

first human CRISPR trial approved by Chinese for August 2016:

genetic diseases:

pregnancies with Down Syndrome terminated: 1999 European study)

CRISPR and aging:

Help us caption & translate this video!…

The rest is here:
CRISPR – YouTube

Recommendation and review posted by Bethany Smith

Hypogonadism Treatment & Management: Approach Considerations …

In prepubertal patients with hypogonadism, treatment is directed at initiating pubertal development at the appropriate age. Age of therapy initiation takes into account the patient’s psychosocial needs, current growth, and growth potential. Treatment entails hormonal replacement therapy with sex steroids, ie,estrogen for females and testosterone for males.

Introduction of sex steroids in such cases startswith the use ofsmall, escalating doses over a period of a couple of years. In females, introduction of puberty can begin with administration of small doses of estrogen given either orally or transdermally. One traditional regimen uses conjugated estrogen startingat doses as low as 0.15 mg daily and titrating upwards in 6-12 month intervals to typically 0.625 mg daily, at which point menses can be induced with the introduction of a progestin. Alternatively, transdermal 17-estradiol (0.08 to 0.12 mcg estradiol/kg) can be used.

In boys, introduction of puberty is achieved with the use of testosterone, administered intramuscularly or transdermally (in the form of a patch or gel). A typical regimen involves testosterone enanthate injections 50 mg monthly, titrating up to 200-250 mg every 2 weeks, which is a typical adult replacement dose. Adult testosterone dose can be adjusted to maintain serum testosterone concentrations in the normal adult range.

Therapy with sexsteroid replacement ensures development of secondary sexual characteristics and maintenance of normal sexual function. In patients with hypergonadotropic hypogonadism, fertility is not possible. However, patients with hypogonadotropic hypogonadism have fertilitypotential,although therapy with sex steroids does not confer fertility or stimulate testicular growth in men.An alternative for men with hypogonadotropic hypogonadism has been treatment with pulsatile LHRH or hCG, either of which can stimulate testicular growth and spermatogenesis.

Because such treatment is more complex than testosterone replacement, and because treatment with testosterone does not interfere with later therapy to induce fertility, most male patients with hypogonadotropic hypogonadism prefer to initiate and maintain virilization with testosterone.At a time when fertility is desired, it may be induced with either pulsatile LHRH or (more commonly) with a schedule of injections of hCG and FSH. Similarly, fertility can be achieved in females with pulsatile LHRH or exogenous gonadotropin. Such therapy results in ovulation in 95% of women.

A phase III, multicenter, open-label, single-arm trial by Nieschlag et al indicated that corifollitropin-alfa therapy combined with hCG treatment can significantly increase testicular volume and induce spermatogenesis in adult males with hypogonadotropic hypogonadism whose azoospermia could not be cured by hCG treatment alone. Patients in the study who remained azoospermic, though with normalized testosterone levels, after 16 weeks of hCG treatment underwent 52 weeks of twice-weekly hCG therapy along with every-other-week corifollitropin-alfa treatment (150 g). Mean testicular volume in these patients rose from 8.6 mL to 17.8 mL, while spermatogenesis was induced in more than 75% of subjects. [10]

The use of oral testosterone preparations, such as 17-alkylated androgens (eg, methyltestosterone), is discouraged because of liver toxicity. However, oral testosterone undecanoate is available in some countriesand is now approved in the United States. Intramuscular testosterone is available as testosterone enanthate or cypionate. Transdermal testosterone can be administered either in the form of a patch or gel. A nasal testosterone replacement therapy has been approved by the US Food and Drug Administration (FDA) for adult males with conditions such as primary hypogonadism (congenital or acquired) and hypogonadotropic hypogonadism (congenital or acquired) resulting from a deficiency or absence of endogenous testosterone. [11] The recommended dosage is 33 mg/day in three divided doses. The drug has not been approved for males younger than 18 years.

For older men with testosterone deficiency, a review by the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA) found that the evidence concerning the risk of serious cardiovascular side effects from the use of testosterone in men with hypogonadism was inconsistent. [12, 13] The PRAC determined that the benefits of testosterone outweigh its risks but stressed that testosterone-containing medicines should be used only when lack of testosterone has been confirmed by signs and symptoms, as well as by laboratory tests. However,a literature review by Albert and Morley indicated that testosterone supplementation in males aged 65 years or older may increase the risk of cardiovascular events, particularly during the first year of treatment, althoughintramuscular testosterone seemed to carry less risk than other forms. [14]

On the other hand,a study by Traish et al suggested that long-term testosterone therapy in men with hypogonadism significantly reduces cardiovascular diseaserelated mortality. Patients in the studys testosterone-treated group (n=360) underwent therapy for up to 10 years, with median follow-up being 7 years. The investigators found no cardiovascular eventrelated deaths in the treated patients, compared with 19 such deaths in the group that received no testosterone therapy (n=296). According to the study, mortality in the testosterone-treated patients was reduced by an estimated 66-92%. [15]

A literature review by Corona et al indicated that testosterone replacement therapy is safe for age- or comorbidity-related (functional) male hypogonadism, not just for the organic variety. The investigators reported that the safety of testosterone replacement therapy in functional cases, with regard to cardiovascular and venous thromboembolism risk, as well as prostate concerns, is high enough to allow for the treatment. [16]

The latest Endocrine Society clinical practice guidelines suggest testosterone therapy for men receiving high doses of glucocorticoids who also have low testosterone levels, to promote bone health. The guidelines also suggest such therapy in human immunodeficiency virus (HIV)infected men with low testosterone levels, to maintain lean bone mass and muscle strength.

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Hypogonadism Treatment & Management: Approach Considerations …

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Generalized Hypopituitarism – Endocrine and Metabolic …

Generalized hypopituitarism refers to endocrine deficiency syndromes due to partial or complete loss of anterior lobe pituitary function. Various clinical features occur depending on the specific hormones that are deficient. Diagnosis involves imaging tests and measurement of pituitary hormone levels basally and after various provocative stimuli. Treatment depends on cause but generally includes removal of any tumor and administration of replacement hormones.

Hypopituitarism is divided into

Primary: Caused by disorders that affect the pituitary gland

Secondary: Caused by disorders of the hypothalamus

The different causes of primary and secondary hypopituitarism are listed in the table below (see Table: Causes of Hypopituitarism).

Causes primarily affecting the pituitary gland (primary hypopituitarism)

Infarction or ischemic necrosis

Hemorrhagic infarction (pituitary apoplexy)

Vascular thrombosis or aneurysm, especially of the internal carotid artery

Meningitis (tubercular, other bacterial, fungal, malarial)

Idiopathic isolated or multiple pituitary hormone deficiencies

Drugs (eg hypophysitis due to antimelanoma monoclonal antibodies)

Causes primarily affecting the hypothalamus (secondary hypopituitarism)

Neurohormone deficiencies of the hypothalamus

Surgical transection of the pituitary stalk

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Generalized Hypopituitarism – Endocrine and Metabolic …

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Hypopituitarism – Symptoms and causes – Mayo Clinic


Hypopituitarism is a rare disorder in which your pituitary gland either fails to produce one or more of its hormones or doesn’t produce enough of them.

The pituitary gland is a small bean-shaped gland situated at the base of your brain, behind your nose and between your ears. Despite its size, this gland secretes hormones that influence nearly every part of your body.

In hypopituitarism, you have a short supply of one or more of these pituitary hormones. This deficiency can affect any number of your body’s routine functions, such as growth, blood pressure and reproduction.

You’ll likely need medications for the rest of your life to treat hypopituitarism, but your symptoms can be controlled.

Hypopituitarism is often progressive. Although the signs and symptoms can occur suddenly, they more often develop gradually. They are sometimes subtle and may be overlooked for months or even years.

Signs and symptoms of hypopituitarism vary, depending on which pituitary hormones are deficient and how severe the deficiency is. They may include:

See your doctor if you develop signs and symptoms associated with hypopituitarism.

Contact your doctor immediately if certain signs or symptoms of hypopituitarism develop suddenly or are associated with a severe headache, visual disturbances, confusion or a drop in blood pressure. Such signs and symptoms could represent sudden bleeding into the pituitary gland (pituitary apoplexy), which requires prompt medical attention.

Hypopituitarism may be the result of inherited disorders, but more often it’s acquired. Hypopituitarism frequently is triggered by a tumor of the pituitary gland. As a pituitary tumor increases in size, it can compress and damage pituitary tissue, interfering with hormone production. A tumor can also compress the optic nerves, causing visual disturbances.

The cause of hypopituitarism can also be other diseases and events that damage the pituitary, such as:

Diseases of the hypothalamus, a portion of the brain situated just above the pituitary, also can cause hypopituitarism. The hypothalamus produces hormones of its own that directly affect the activity of the pituitary.

In some cases, the cause of hypopituitarism is unknown.

Aug. 22, 2017

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Hypopituitarism – Symptoms and causes – Mayo Clinic

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