At Novartiss research lab in Cambridge, Massachusetts, a large incubator-like piece of equipment is helping give birth to a new era of psychiatric drug discovery. Inside it, bathed in soft light, lab plates hold living human stem cells; robotic arms systematically squirt nurturing compounds into the plates. Thanks to a series of techniques perfected over the last few years in labs around the world, such stem cellscapable of developing into specialized cell typescan now be created from skin cells. When stem cells derived from people with, say, autism or schizophrenia are grown inside the incubator, Novartis researchers can nudge them to develop into functioning brain cells by precisely varying the chemicals in the cell cultures.

Theyre not exactly creating schizophrenic or autistic neurons, because the cells arent working within the circuitry of the brain, but for drug-discovery purposes its the next best thing. For the first time, researchers have a way to directly examine in molecular detail whats going wrong in the brain cells of patients with these illnesses. And, critically for the pharmaceutical company, there is now a reliable method of screening for drugs that might help. Do the neurons look different from normal ones? Is there a flaw in the way they form connections? Could drugs possibly correct the abnormalities? The answer to each of these questions is a very preliminary yes.

The technique is so promising that Novartis has resumed trying to discover new psychiatric drugs after essentially abandoning the quest. Whats more, its been introduced at a time when knowledge about the genetics behind brain disorders is expanding rapidly and other new tools, including optogenetics and more precise genome editing (see Neurosciences New Toolbox), are enabling neuroscientists to probe the brain directly. All these developments offer renewed hope that science could finally deliver more effective treatments for the millions of people beset by devastating brain disorders.

A revival in psychiatric drug development is badly needed: there hasnt been a breakthrough medicine for any of the common mental illnesses, including schizophrenia, bipolar disorder, or severe depression, in roughly 50 years. From the late 1940s through the 1960s, a series of serendipitous discoveries, beginning with the finding that lithium could help bipolar patients, transformed the treatment of the mentally ill. It became possible to quiet the hallucinations and delusions of schizophrenia and offer a drug to the severely depressed. The sudden availability of pharmacological relief transformed psychiatry and played a role in closing down many of the mammoth mental hospitals of the era. But then, almost as suddenly as it had started, the revolution stalled.

Many of the drugs discovered in the 1950s and 1960s are still the most effective treatments available for schizophrenia, anxiety disorders, and depression. But while these medications have improved the lives of some patients, they are ineffective for others, and they are woefully inadequate in treating many of the worst symptoms. Whats more, the drugs can have severe side effects.

Take schizophrenia, for example. Existing antipsychotic drugs can make the hallucinations and delusions disappear, but they dont improve the so-called negative symptomsthe disruption of emotions such as pleasure, which can leave people uninterested in communicating or even in living. Existing drugs also have no effect on the way schizophrenia can impair concentration, decision-making, and working memory (critical in such tasks as language comprehension). These debilitating cognitive problems make it impossible for people to work and difficult for them even to make the seemingly simple logical choices involved in everyday life. Insidiously, such symptoms can strike high-performing individuals, often in their late teens. People dont understand, says Guoping Feng, a professor of neuroscience at MIT who studies the neural basis of psychiatric disorders. They ask, once a patient is given antipsychotic medicine, Why cant you go to work? But [those with schizophrenia] cant work because they dont have cognitive functions, they dont have normal executive functions. And there are no drugs for this. On top of that are the side effects of antipsychotic medicines, which can include Parkinsons-like movement disorders, dramatic weight gain, or a potentially deadly loss of white blood cells. In short, the illness destroys many patients lives.

We were led down a path that said depression is about being a quart low in serotonin, and schizophrenia means you have a bit too much dopamine on board. But that just isnt how the brain works. The brain isnt a bowl of soup.

Finally, many people with brain disorders are simply not helped at all by available drugs. Antidepressants work well for some people but do nothing for many others, and there are no effective drug treatments for the social disabilities or repetitive behaviors caused by autism.

Overall, neuropsychiatric illness is a leading cause of disability. According to the National Institute of Mental Health (NIMH) in Rockville, Maryland, 26 percent of American adults suffer from a diagnosable mental disorder in any given year. Severe depression, the most common of these disorders, is the leading cause of disability in the U.S. for individuals between 15 and 44. Around 1 percent of the American population suffers from schizophrenia; one in 68 American children is diagnosed with an autism spectrum disorder.

Though the need for better treatments is unquestionable, drug companies had until very recently simply run out of good ideas. The drugs developed in the 1950s and 1960s were discovered by accident, and no one knew how or why they worked. In the subsequent decades, drug researchers reverse-engineered the medications to identify the brain molecules that the drugs acted on, such as dopamine and serotonin. In retrospect, however, scientists now realize that while tweaking the levels of these chemicals addressed some symptoms of psychiatric disorders, it was a crude strategy that ignored the biological mechanisms underlying the illnesses.

Continue reading here:
Shining Light on Madness

Recommendation and review posted by Bethany Smith

Poway, CA (PRWEB) June 20, 2014

Vet-Stem, Inc. announced that another patent has issued under its exclusive worldwide license with Artecel, Inc. and with The University of California. This patent covers compositions of adipose tissue-derived stem cells that can differentiate into many types of tissues include cartilage, bone, nerve, kidney, heart and skin. This patent will provide coverage for the on-going commercial and development programs at Vet-Stem.

This new patent adds to the other patents in the Vet-Stem portfolio that cover compositions and methods of production of regenerative cells from adipose tissue for many diseases in humans and animals. Vet-Stem has exclusive worldwide rights for veterinary use of these patents (over 50 issued and 70 pending patents) which improves the companys intellectual property position in this rapidly developing field.

As the first company in the United States to provide an adipose-derived stem cell service to veterinarians for their patients, Vet-Stem, Inc. pioneered the use of regenerative stem cells in veterinary medicine. In the last decade over 10,000 animals including horses, dogs, cats, and some exotics have been treated using Vet-Stems services.

Intellectual property rights are key assets in these markets and our investments in the area over the last decade have created tremendous value for our shareholders, said Robert Harman, DVM, MPVM, CEO and Founder of Vet-Stem. We need to do everything possible to protect and grow the market that we are creating in Regenerative Veterinary Medicine by providing the highest quality control in the industry. The value of this technology has increased greatly since the founding of the company in 2002 by providing clear evidence of the therapeutic activity and safety of these stem cells.

Vet-Stem researchers have been authors on 11 peer-reviewed papers including the first blinded, controlled, multicenter study of adipose-derived stem cells for chronic osteoarthritis in the canine hip joint, and the first multicenter clinical study of adipose-derived stem cells for chronic osteoarthritis in the canine elbow. Vet-Stem is actively investigating stem cell therapy for immune-mediated and inflammatory disease, as well as organ disease and failure.

About Vet-Stem, Inc. Vet-Stem, Inc. was formed in 2002 to bring regenerative medicine to the veterinary profession. The privately held company is working to develop therapies in veterinary medicine that apply regenerative technologies while utilizing the natural healing properties inherent in all animals. The company holds exclusive licenses to over 50 patents including world-wide veterinary rights for use of adipose derived stem cells. For more on Vet-Stem, Inc. and Veterinary Regenerative Medicine visit http://www.vet-stem.com or call 858-748-2004.

See original here:
Canadian Patent for Adipose Stem Cells Issued Under Vet-Stem License

Recommendation and review posted by Bethany Smith

NEW YORK (CNNMoney)

No need to go that far.

It turns out, the best kind of anti-aging treatment is inside one's own body, and the rich are taking advantage of it, exploring the latest research in new technologies, genome mapping and stem cell treatments.

Among them is Oracle billionaire Larry Ellison, a large investor of the Ellison Medical Foundation, which supports research exploring the biology that underlies aging and age-related diseases. And there's billionaire Peter Nygrd, who says he wants to live forever (or die trying), and has suggested he's found the keys to immortality in stem cell research.

Some doctors agree that stem cells are a key part of chasing youth.

"If you're a wealthy guy and haven't stored your stem cells, I think you're a total idiot," said Dr. Lionel Bissoon, a New York City physician who sees a number of stressed out, wealthy patients.

Related: It's expensive being rich

They usually come to him with similar problems: "Fatigue, belly fat, erectile dysfunction, tiring very quickly ... all very common with my patients from Wall Street," Bissoon said. The short-term solution to those ailments, he says, is testosterone replacement -- which is relatively affordable at a few hundred dollars a pop -- and IV nutrition.

For the long term he recommends stem cell storage, which works as a sort of rainy day insurance. The cells are extracted, preferably when the patient is on the younger side -- around 30 is said to be a good age -- and can then be used to boost an immune system or help to rebuild damaged organs later.

Dr. Dipnarine Maharaj stores cells at his South Florida Bone Marrow Stem Cell Transplant Institute in Boynton Beach, Fla.

Go here to see the original:
Can enough money buy you eternal youth?

Recommendation and review posted by Bethany Smith

NEW YORK (CNNMoney) The best kind of anti-aging treatment is inside ones own body, and the rich are taking advantage of it, exploring the latest research in new technologies, genome mapping and stem cell treatments.

Among them is Oracle billionaire Larry Ellison, a large investor of the Ellison Medical Foundation, which supports research exploring the biology that underlies aging and age-related diseases. And theres billionaire Peter Nygrd, who says he wants to live forever (or die trying), and has suggested hes found the keys to immortality in stem cell research.

Some doctors agree that stem cells are a key part of chasing youth.

If youre a wealthy guy and havent stored your stem cells, I think youre a total idiot, said Dr. Lionel Bissoon, a New York City physician who sees a number of stressed out, wealthy patients.

They usually come to him with similar problems: Fatigue, belly fat, erectile dysfunction, tiring very quickly all very common with my patients from Wall Street, Bissoon said. The short-term solution to those ailments, he says, is testosterone replacement which is relatively affordable at a few hundred dollars a pop and IV nutrition.

For the long term he recommends stem cell storage, which works as a sort of rainy day insurance. The cells are extracted, preferably when the patient is on the younger side around 30 is said to be a good age and can then be used to boost an immune system or help to rebuild damaged organs later.

Dr. Dipnarine Maharaj stores cells at his South Florida Bone Marrow Stem Cell Transplant Institute in Boynton Beach, Fla.

People are looking and finding ways to be able to help them to live longer to spend the money theyve earned, he said. They spend their retirement going doctor to doctor, and if we can find ways to prevent that it would be good. His clinic sees executives under a lot of stress, a fast way to damage any immune system.

He agrees that its important to store cells before they become irreparably damaged. To collect and store stem cells at his clinic costs $15,000 for the initial extraction, which includes a year of storage. After that, storage costs $50 per month.

Stem cells arent the only high-end solution.

See the article here:
How the rich try to buy eternal youth

Recommendation and review posted by Bethany Smith

Patient Testimonial: Stem cell therapy for COPD Treatment in SERBIA
http://www.placidway.com/profile/1617/ - Marko was treated for COPD with Stem Cell Therapy in Swiss Medica #39;s Serbian Clinic. How the treatment effectiveness ...

By: placidways

Go here to read the rest:
Patient Testimonial: Stem cell therapy for COPD Treatment in SERBIA - Video

Recommendation and review posted by Bethany Smith

Successful Fetal Stem Cell Therapy in Kyiv, Ukraine at EmCell via PlacidWay
Watch Daniel #39;s testimonial after undergoing successful Fetal Stem Cell Therapy at EmCell in Kyiv, Ukraine.

By: placidways

See the original post here:
Successful Fetal Stem Cell Therapy in Kyiv, Ukraine at EmCell via PlacidWay - Video

Recommendation and review posted by Bethany Smith

Pfizer Antes Up $110 Million To Buy In To Cancer Cell Therapy Race
Fresh from its failed (or at least paused) attempt to acquire rival AstraZeneca, Pfizer has made a big bet on one of the hottest new technologies in cancer: ...

By: WochitBusiness

More:
Pfizer Antes Up $110 Million To Buy In To Cancer Cell Therapy Race - Video

Recommendation and review posted by Bethany Smith

Eligh Amp Live | Cell Therapy
Eligh Amp Live | Cell Therapy Twitter: https://twitter.com/JeeeeeOliveira Facebook: https://www.facebook.com/jee.oliveira.1 Tumblr: http://www.tumblr.com/blog/jeeeeoliveira We do Not own...

By: J Oliveira

Read the rest here:
Eligh & Amp Live | Cell Therapy - Video

Recommendation and review posted by Bethany Smith

Pluristem Receives Patent in India for Cell Therapy Production Methods and Compositions
HAIFA, Israel, June 16, 2014 (GLOBE NEWSWIRE) -- Pluristem Therapeutics Inc. (PSTI) (TASE:PLTR), a leading developer of placenta-based cell therapies, today ...

By: CorporateProfile

Originally posted here:
Pluristem Receives Patent in India for Cell Therapy Production Methods and Compositions - Video

Recommendation and review posted by Bethany Smith

Tampa, FL (PRWEB) June 19, 2014

Located in Tampa, FL, Lung Institute was instrumental in allowing Robert Ware get his life back. Three months ago, Robert decided to take his health into his own hands and move ahead with stem cell treatment. Hundreds of people with lung disease have been treated with the companys innovative use of stem cells from the patients own body.

Stem cell therapy is a viable option for many people with lung disease, said Dr. Burton Feinerman, Medical Director of the Lung Institute. Our patients are breathing easier, walking further, and depending less on supplemental oxygen.

For Robert, 71, chronic obstructive pulmonary disease (COPD) was taking over his life. Over the past decade, this progressive lung disease diminished his quality of life and forced him away from the activities he used to love. Robert was unable to be outdoors, attend live music shows in the town squares and work on his yard and landscaping. A few months ago, Robert had a health scare that he thought was a heart attack. He was actually experiencing lung spasms and not receiving enough oxygen, often referred to as a COPD exacerbation.

COPD is not only the third leading cause of death in the United States, but is responsible for severely limiting sufferers quality of life. People with COPD often cant even walk to their mailbox without debilitating shortness of breath. For people without COPD, it is akin to breathing through a small straw while carrying out normal activities.

In Roberts case, his exacerbation caused him to look for alternatives to the traditional medications he had been taking. Robert and his wife decided stem cell therapy at the Lung Institute was the best option for him. Robert received autologous stem cell therapy, meaning stem cells from his own body were used to help cue natural healing processes for damaged lung tissue. After the minimally invasive, outpatient procedure, Robert returned home and was able to regain a substantial amount of his quality of life.

Before treatment, I was pretty much on oxygen all the time, said Robert. I couldnt do much without my oxygen. Today, Im doing just about anything I want to do.

Now, Robert no longer needs to pay someone to take care of his lawn. Robert is able to be outdoors, mow the grass, work around the house and go out with friends.

People are just amazed how well Im doing. Im probably 75% to what I was originally, 10 years ago, added Robert. I started getting better fast and my friends couldnt believe it. They were shocked. It was kind of funfeeling good, rather than being sick.

About Lung Institute At Lung Institute (LI), we are changing the lives of hundreds of people across the nation through the innovative technology of regenerative medicine. We are committed to providing patients a more effective way to address pulmonary conditions and improve quality of life. Our physicians, through their designated practices, have gained worldwide recognition for the successful application of revolutionary minimally invasive stem cell therapies. With over a century of combined medical experience, our doctors have established a patient experience designed with the highest concern for patient safety and quality of care. For more information, visit our website at LungInstitute.com, like us on Facebook, follow us on Twitter or call us today at 1-855-469-5864.

Excerpt from:
Lung Institute Instrumental in Allowing Robert Ware to Get His Life Back

Recommendation and review posted by Bethany Smith

Contact Information

Available for logged-in reporters only

Newswise Philadelphia, June 19, 2014 New research describes details of how a diabetes-related gene functions on a biological pathway that affects the release of insulin. The study authors say that finding drugs that act on that pathway may eventually lead to a new treatment for type 1 diabetes.

In 2007, our genomics team found the first gene in a genome-wide search to play a major role in type 1 diabetes, but we did not know its function, said co-study leader Hakon Hakonarson, M.D., Ph.D., director of the Center for Applied Genomics (www.caglab.org) at The Childrens Hospital of Philadelphia (CHOP). Now we understand how this gene plays a critical role in regulating insulin metabolism.

Doris A. Stoffers, M.D., Ph.D., of the Institute for Diabetes, Obesity and Metabolism of the Perelman School of Medicine at the University of Pennsylvania, was the co-senior author with Hakonarson, and is the corresponding author of the study, which appears online today in Cell.

The current finding builds on the 2007 genome-wide association study (GWAS) by Hakonarson and colleagues at CHOP showing that variations in the KIAA0305 gene, also known as CLEC16A, correlate with higher risk of type 1 diabetes and other autoimmune diseases.

Hakonarsons group subsequently developed a strain of mice in which the Clec16a gene was deactivated. They then collaborated with Stoffers, an endocrinology expert, to breed a subset of the knockout mice in which only the pancreatic cells were affected.

The scientists show that the Clec16a gene acts upon a pathway crucial to insulin secretion. Clec16a normally helps protect mitochondria, the tiny energy-producing components of cells. When the Clec 16a gene is knocked out, damaged mitochondria are then digested, a process called mitophagy, and the resulting loss of energy output disrupts beta cells in the pancreas in their normal job of secreting insulin. The ultimate result of the deletion of Clec16a is an accumulation of unhealthy mitochondria, leading to less insulin being secreted by the beta cells, said Stoffers.

In humans, inability to produce insulin is the hallmark of type 1 diabetes. The study team showed that humans with single-base variants in CLEC16A have reduced beta cell function, although with less extreme effects than in the knockout mice.

The researchers showed that the Clec16a biological pathway has downstream effects on a protein clled Parkin, already known to be a master regulator of mitophagy. The current study is the first to link the Clec16a pathway with regulation of Parkin-mediated mitophagy and to suggest how this process may affect diabetes by dysregulating insulin secretion.

Read more from the original source:
Gene Study Points to Novel Pathway for Diabetes Treatment

Recommendation and review posted by Bethany Smith

Scientists have discovered several mutations in one gene that may safeguard a person from heart attacks.

The mutations in this specific gene, known as APOC3, have been found to keep triglycerides at levels lower than average, which could help researchers develop a new generation of drugs to prevent cardiac arrest and stroke among people who are at high risk.

The findings were just published in two related papers in the New England Journal of Medicine. The researchers from both teams -- one from University of Copenhagen and the other from Massachusetts General Hospital and the Broad Institute -- say these four mutations in the APOC3 gene lowered heart attack and stroke risk by approximately 40 percent.

Dr. David Agus told "CBS This Morning" that these findings are a breakthrough in research for heart disease prevention and could someday provide patients with an alternative to statins, the cholesterol maintenance drugs associated with a number of risk factors including muscular pain and liver damage.

"For the last 30 years the way we've treated heart disease is by lowering LDL, which we have called the 'bad cholesterol,'" Agus explained. The APOC3 gene "was meant to keep triglycerides up, and when it's mutated or turned off triglycerides go down and heart disease goes down pretty dramatically in these people. So we now have for the first time a new target to prevent or delay heart disease."

13 Photos

Laughing more and worrying less can protect your ticker. What else can you do to de-stress?

Heart attack remains the number one killer in the U.S. According to the Centers for Disease Control and Prevention, coronary heart disease is responsible for 1 out of every 4 deaths per year and kills a total of 600,000 Americans annually.

One of the studies, conducted by researchers at the Broad Institute at Massachusetts General Hospital, looked at the genetic makeup of 3,734 people. At least one APOC3 gene mutation was found in 1 out of 150 study participants. Individuals with mutations had plasma triglyceride levels that were 39 percent lower than non-carriers. Further, their HDL cholesterol levels -- the "good" kind -- were 22 percent higher, while their LDL cholesterol levels were 16 percent lower than those who did not have a mutation.

The other study from researchers in Copenhagen examined the APOC3 gene in 75,725 people who were then followed for 34 years. The researchers found those with mutations had a 44 percent lower amount of triglycerides and a 36 percent lower heart attack risk.

More:
Rare gene mutation linked to lower heart attack risk

Recommendation and review posted by Bethany Smith

Gretchen Ertl/The New York Times

Dr. Sekar Kathiresan of the Massachusetts General Hospital and the Broad Institute, in Boston, June 17, 2014. Kathiresan led one of two teams to identify a genetic mutation in the Amish community that protects against heart disease by keeping triglyceride

These findings are expected to lead to a push to develop drugs that mimic the effect of the mutations, potentially offering the first new class of drugs to combat heart disease in decades, experts say. Statins, which reduce LDL cholesterol, another cause of heart disease, became blockbusters in the late 1980s. Since then there have been no major new drugs approved for lowering heart disease risk. But experts caution that drug development takes years and that there are no guarantees that new treatments will work as hoped.

Heart attacks are the leading killer in the United States, and about 720,000 Americans a year have them.

Although statins are effective in reducing heart attack risk, many users still often have high levels of triglycerides and go on to have heart attacks. So the results of the new studies are good news, said Dr. Daniel J. Rader, the director of the Preventive Cardiovascular Medicine and Lipid Clinic at the University of Pennsylvania, who was not involved in the research.

"We've been looking for something beyond statins," Rader said. "After we have put people on high-dose statins, what else can we do? Essentially nothing."

Experts differ in their estimates of how many Americans might be candidates for a triglyceride-lowering drug. If the eligible group included all adults with triglyceride levels of 200 or more - the normal level is 150 or less - that would mean about 20 percent of adult Americans. If it was just those with the highest levels, above 500, then 2 percent to 3 percent of adults would qualify.

The discovery announced Wednesday was hinted at in 2008 in a much smaller study in the Amish conducted by researchers from the University of Maryland's medical school. One in 20 Amish people has a mutation that destroys a gene, APOC3, involved in triglyceride metabolism, as compared with one in 150 Americans generally. The scientists were intrigued but did not have enough data to nail down the gene's role in heart attacks.

Sam, a 55-year-old Amish farmer who declined to have his last name published, saying he was uncomfortable about being conspicuous, has such a beneficial mutation. He recalls little heart disease in his family. On a cold day last fall, as an icy rain fell outside, he sat at a small wooden table in his daughter's house and laid out a sheet of paper that showed he had a triglyceride level of 45. The average in the United States is 147.

"It's nice that something came out that is positive," he said.

More:
In a Single Gene, a Path to Fight Heart Attacks

Recommendation and review posted by Bethany Smith

Programming Biology: Eric Klavins at TEDxUofW
Eric Klavins is an associate professor of Electrical Engineering at the University of Washington in Seattle and is the Director for the University of Washington Center for Synthetic Biology....

By: TEDx Talks

See the rest here:
Programming Biology: Eric Klavins at TEDxUofW - Video

Recommendation and review posted by Bethany Smith

Although significant progress has been made over the last 25 years to identify genetic abnormalities associated with congenital myasthenic syndromes (CMS), many patients remain genetically undiagnosed. A report in the inaugural issue of the Journal of Neuromuscular Diseases identifies a gene defect in mitochondria, specifically the citrate carrier SLC25A1, that may underlie deficits in neuromuscular transmission seen in two siblings.

"While mitochondrial gene defects can cause a myriad of neurological disorders including myopathies and neuropathies, these have not been specifically implicated in defects of the neuromuscular junction," says Hanns Lochmller, MD, Professor of Experimental Myology, Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University, Newcastle upon Tyne, UK.

Of the 19 genes that have been implicated in CMS, most express proteins involved in neuromuscular synapse development and function. These mutations usually involve post-synaptic proteins. The current study shifts the area of impairment to the presynaptic region.

Investigators conducted genomic analyses of two patients who are brother and sister. The pair was born to healthy parents who were first cousins. "The family history was highly suggestive of autosomal recessive inheritance," notes Dr. Lochmller. Since childhood, the 33-year-old brother had displayed some speech and motor problems that worsened with exercise and improved with rest. He had mild bilateral ptosis (drooping of the eyelid), speech difficulties, and mild learning disabilities. His 19-year-old sister showed delayed development including recurrent falls, fatigable limb weakness, intermittent double vision, and some drooping of facial muscles.

The investigators performed homozygosity mapping and whole exome sequencing to determine the underlying genetic cause of the siblings' condition and successfully identified a homozygous mutation in the SLC25A1 gene. SLC25A1 is a mitochondrial citrate carrier believed to be a key component in many important biological processes, such as fatty acid and sterol biosynthesis, gluconeogenesis, glycolysis, maintenance of chromosome integrity, and regulation of autophagy.

Using electrophysiologic techniques, researchers were able to show clear abnormalities in the neuromuscular junctions of the patients, as evidenced by increased jitter or jitter with blocking of muscle fibers.

Researchers also found evidence that SLC25A1 may be required for normal neuromuscular junction formation by looking at the effects of reduced expression of SLC25A1 in zebrafish embryos. Anatomically, while the muscle fibers appeared normal, presynaptic motor axon terminals were shortened and grew erratically, with no evidence of complete synapse formation. They also saw structural changes in the brain and heart, which mirrored abnormalities seen in humans.

"It is still not clear how deficits in a mitochondrial citrate carrier result in neuromuscular junction defect," comments Dr. Lochmller. However, while mutations in SLC25A1 may prove to only be a rare cause of CMS, he and his co-investigators advise clinicians that should a patient show fatigable weakness, it may be appropriate to test for SLC25A1 mutations and consider screening for cardiac and metabolic defects should these mutations be found.

"We aimed to identify the underlying molecular defect in this family ever since we met them first in clinic more than 20 years ago," adds co-investigator Kate Bushby, MD, Professor of Neuromuscular Genetics, Institute of Genetic Medicine, MRC Centre for Neuromuscular Diseases, Newcastle University. "We are pleased that latest sequencing technology has resolved this long-standing diagnostic puzzle, which helps us in counseling and treating them more effectively."

Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular disorders characterized by muscle weakness (myasthenia). Typical symptoms include weakness of muscles controlling limbs, as well those involved with control of the eyes, respiration, and movements of the face, head, and neck (due to involvement of the corticobulbar tract). The symptoms are fatigable, meaning that they worsen with repetition, and severity of the deficits can range from mild to severe.

See the rest here:
Mitochondrial Mutation Linked to Congenital Myasthenic Syndrome

Recommendation and review posted by Bethany Smith

Contact Information

Available for logged-in reporters only

Newswise BALTIMORE June 18, 2014. The National Institutes of Health (NIH) has awarded a four-year, $3.7 million grant to researchers at the University of Maryland School of Medicine to develop a personalized medicine program to help doctors diagnose and treat monogenic diabetes a form of diabetes caused by a mutation in a single gene. The study will evaluate methods to implement this program in various health care settings, with an objective to develop a model that could also be applied to caring for patients with genetic variations of other common diseases.

Inherited forms of diabetes, resulting from defects in HNF1A, GCK, HNF4A and a host of other genes, account for at least 1 percent or over 250,000 of diabetes cases nationwide. The actual number may be much higher because of the current challenges in correctly diagnosing those affected.

The two primary forms of monogenic diabetes are maturity-onset diabetes of the young (MODY), a form of non-insulin-requiring diabetes found in young, sometimes lean, people, and neonatal diabetes mellitus (NDM), diagnosed in infants under 6 months old. The majority of these individuals are misdiagnosed with type 1 or type 2 diabetes and may not be receiving appropriate treatment for their genetically-based disease, according to Toni I. Pollin, M.S., Ph.D., a University of Maryland genetics researcher and lead investigator on the study.

Most health care professionals including endocrinologists and geneticists know little about genetic types of diabetes. When they are familiar with them, the high cost and limited availability of genetic testing, which is not always covered by insurance, are major impediments to diagnosing the condition correctly, says Dr. Pollin, associate professor of medicine and epidemiology & public health and member of the Program in Personalized and Genomic Medicine at the University of Maryland School of Medicine. A recent study indicated that monogenic diabetes is only diagnosed correctly in about 6 percent of cases in the United States.

This research will enhance our ability to identify and properly diagnose individuals and families with specific inherited forms of diabetes, tailor treatment to their diagnosis and identify other family members at risk for developing diabetes, Dr. Pollin says. Correct and early diagnosis and treatment should improve blood sugar control and decrease life-threatening complications.

The most common forms of diabetes, type 1 and type 2, are polygenic involving multiple genes. Environmental and lifestyle factors, such as diet and activity level in the case of type 2 diabetes, often also come into play.

It is important for doctors to identify the specific type of diabetes in order to determine the most effective treatment. For example, patients with type 1 diabetes an autoimmune disorder that destroys insulin-producing beta cells in the pancreas require treatment with insulin for survival. Those with type 2 diabetes, who dont produce enough insulin or use it properly, typically receive metformin as a first-line treatment. For patients with certain forms of genetic diabetes, oral medications called sulfonylureas enable the patient to release his/her own insulin and are more effective and far less invasive than insulin injections in controlling blood sugar levels.

Co-principal investigator Alan R. Shuldiner, M.D., the John L. Whitehurst Endowed Professor of Medicine, expects the research to lay important groundwork to help integrate genetic testing into clinical practice. We believe this is the first effort to implement systematic screening for genetic forms of diabetes in all patients seen in diabetes and primary care clinics with follow-up genomic testing for those at risk, says Dr. Shuldiner, associate dean for personalized medicine and director of the Program in Personalized and Genomic Medicine. We are reaching out to implement genomic medicine beyond academic hubs into diverse health care settings and in the community at large.

More here:
University of MD Researchers Receive NIH Grant to Develop Personalized Medicine Program for Genetic Types of Diabetes

Recommendation and review posted by Bethany Smith

Contact Information

Available for logged-in reporters only

ANN ARBOR, Mich. Researchers, tackling a modern challenge of diabetes research, have identified a gene believed to disrupt the ability of beta cells to produce insulin resulting in type 1 diabetes.

The loss of beta cell function may be driven by a defect in Clec16a, a gene responsible for getting rid of old mitochondria, the powerhouses of cells, and making room for fresh ones. Healthy mitochondria are crucial to allowing beta cells to produce insulin and control blood sugar levels.

Little has been known about the ways in which many diabetes genes work, but a study published in the journal Cell sheds light on a genetic risk component of type 1 diabetes and a new approach for keeping beta cells strong.

Preserving beta cells is the top priority in diabetes care, says lead author Scott Soleimanpour, M.D., investigator at the University of Michigans Brehm Diabetes Research Center. This new pathway will allow us to focus therapies on preserving healthy mitochondria within the beta cell to treat or prevent both type 1 and type 2 diabetes.

Soleimanpour, an endocrinologist who treats patients at the University of Michigan Health System, has lived with type 1 diabetes for 30 years.

Hes made a career of studying diabetes, including a fellowship at Perelman School of Medicine at the University of Pennsylvania where his laboratory work to understand Clec16a began.

Type 1 diabetes is the unpreventable form of diabetes that usually strikes children and young adults. Its less common than type 2 diabetes which is associated with older age and obesity.

Diabetes is diagnosed when the body has an abnormally high level of glucose, or blood sugar. Its believed that in type 1 diabetes, the bodys immune system destroys the pancreatic beta cells responsible for making insulin, a hormone the body needs to convert food into energy.

Excerpt from:
Genetic Risk for Type 1 Diabetes Driven by Faulty Cell Recycling

Recommendation and review posted by Bethany Smith

Contact Information

Available for logged-in reporters only

Newswise Researchers have identified the first genetic variations linked to race that begin to explain a higher risk of death among some African American and Caucasian patients taking the anti-clotting drug clopidogrel (Plavix) after a heart attack.

These variants increased patients risk of dying in the year following a first heart attack, but they appeared to do so for different reasons depending on race, according to a study at Washington University School of Medicine in St. Louis.

In particular, the team found that two DNA variants common in African Americans were associated with an increased risk of both bleeding and death. In Caucasians, a different variant was linked to additional heart attacks and a higher risk of death.

The research is published June 17 in the American Heart Association journal Circulation: Cardiovascular Genetics.

The variations influence the way people metabolize clopidogrel and can alter its effectiveness. The blood-thinning drug commonly is prescribed after a heart attack to reduce the likelihood of another heart attack or a stroke.

The research is provocative, said the studys first author, cardiologist Sharon Cresci, MD, assistant professor of medicine and of genetics. Knowing about potential genetic differences based on race can help physicians tailor drugs to patients based on their genetic makeup.

Clopidogrel is metabolized in the liver, where it is turned into its active form via a group of enzymes called cytochrome P450, or CYP for short. Although clopidogrel is effective in many patients, earlier studies determined that some people metabolize the drug better than others.

Indeed, in 2010, the Food and Drug Administration added a black box warning to labels of clopidogrel after research that primarily involved Caucasians showed that people with a particular CYP genetic variant metabolized the drug poorly, which reduced the amount of the drug circulating in the blood. These patients had a higher risk of heart attack and stroke.

More here:
Genetic Find Shows Race a Factor in Higher Mortality Risk in Heart Attack Patients on Anti-Clotting Drug

Recommendation and review posted by Bethany Smith

Let #39;s Play The Sims 3 - Perfect Genetics Challenge: Cowgirl and Horse Edition Episode 1
Come join me on my latest journey into the complex world of sims 3 genetics, as I try to get perfect foals and perfect children. Will I succeed in getting perfect genetics in both? Can I keep...

By: GamerGirlsNetwork

Excerpt from:
Let's Play The Sims 3 - Perfect Genetics Challenge: Cowgirl and Horse Edition Episode 1 - Video

Recommendation and review posted by Bethany Smith

Jon Rappoport on Genetics Transhumanism
Jon Rappoport on Genetics Transhumanism (FAIR USE) Jon Rappoport has worked as a free-lance investigative reporter for over 30 years.He has written articles on politics, health, media, culture...

By: localmcmedianed

More here:
Jon Rappoport on Genetics & Transhumanism - Video

Recommendation and review posted by Bethany Smith

Let #39;s Play The Sims 3 - Perfect Genetics Challenge: Cowgirl and Horse Edition Episode 2
Come join me on my latest journey into the complex world of sims 3 genetics, as I try to get perfect foals and perfect children. Will I succeed in getting perfect genetics in both? Can I keep...

By: GamerGirlsNetwork

See the rest here:
Let's Play The Sims 3 - Perfect Genetics Challenge: Cowgirl and Horse Edition Episode 2 - Video

Recommendation and review posted by Bethany Smith

Let #39;s Play The Sims 3 - Perfect Genetics Challenge: Cowgirl and Horse Edition Episode 4
Come join me on my latest journey into the complex world of sims 3 genetics, as I try to get perfect foals and perfect children. Will I succeed in getting perfect genetics in both? Can I keep...

By: GamerGirlsNetwork

View post:
Let's Play The Sims 3 - Perfect Genetics Challenge: Cowgirl and Horse Edition Episode 4 - Video

Recommendation and review posted by Bethany Smith

Let #39;s Play The Sims 3 - Perfect Genetics Challenge: Cowgirl and Horse Edition Episode 5
Come join me on my latest journey into the complex world of sims 3 genetics, as I try to get perfect foals and perfect children. Will I succeed in getting perfect genetics in both? Can I keep...

By: GamerGirlsNetwork

Link:
Let's Play The Sims 3 - Perfect Genetics Challenge: Cowgirl and Horse Edition Episode 5 - Video

Recommendation and review posted by Bethany Smith

Contact Information

Available for logged-in reporters only

Newswise BETHESDA, MD Nearly 900 scientists from 27 countries will attend the 11th International Conference on Zebrafish Development and Genetics organized by the Genetics Society of America (GSA), June 2428, 2014, in Madison, Wisconsin. The conference will feature 600 presentations of cutting-edge research results on topics including embryonic and adult development, functional genomics, regenerative medicine, chemical biology, emerging technologies, evolution, and cancer as well as cardiovascular, digestive, and infectious diseases. In addition to the scientific programming, the GSA has organized several sessions designed to provide career development for the 60% of student and postdoctoral attendees; this includes a daylong pre-conference Trainee Bootcamp that will provide guidance on obtaining research funding and pursuing careers within and beyond academia.

One of the highlights of the meeting will be the Chi-Bin Chien Award lecture on Thursday, June 26th, which is presented by an outstanding graduate student, postdoctoral trainee, or recently appointed faculty member. This award honors zebrafish researcher Dr. Chi-Bin Chien (19652011) and his enthusiasm for the discussion of scientific ideas and the synergistic ideas that arise from interactions and open conversation among researchers, his efforts to mentor and support young scientists, and the collaborative and generous spirit with which he contributed to advances in zebrafish research. The 2014 awardee and only the second recipient of this award is postdoc Andrea Pauli, PhD (Harvard University), who will speak about her work on developmental genomics: From genomics to novel gene functions in zebrafish.

The zebrafish (Danio rerio) is a popular model organism for studying vertebrate development and genetics, because it is : 1) well-characterized at the molecular and behavioral levels, 2) practical to work with in a laboratory setting, 3) able to regenerate several of its organs, and 4) large and transparent during embryonic development. Because of its genetic similarity to humans, the zebrafish is also a common model for human disease and toxicity testing. As with other model organisms around which GSA organizes conferences, research using zebrafish has enabled breakthrough discoveries in genetics that have advanced our understanding of fundamental biology and provided valuable insights into human disease. The biennial conference brings together leading laboratories using this important organism, and will showcase some of the latest significant developments in genetics research.

For additional information, please see the conference website at http://www.genetics-gsa.org/zebrafish/2014/.

Media Eligibility:

The 11th International Conference on Zebrafish Development and Genetics is open to media representatives, including those from bona fide print, broadcast, radio, and online venues, and freelance writers on a verifiable assignment from an established news source. Please contact press@genetics-gsa.org for information about complimentary press registration.

* * *

About the Genetics Society of America (GSA) Founded in 1931, the Genetics Society of America (GSA) is the professional scientific society for genetics researchers and educators. The Societys more than 5,000 members worldwide work to deepen our understanding of the living world by advancing the field of genetics, from the molecular to the population level. GSA promotes research and fosters communication through a number of GSA-sponsored conferences including regular meetings that focus on particular model organisms. GSA publishes two peer-reviewed, peer-edited scholarly journals: GENETICS, which has published high quality original research across the breadth of the field since 1916, and G3: Genes|Genomes|Genetics, an open-access journal launched in 2011 to disseminate high quality foundational research in genetics and genomics. The Society also has a deep commitment to education and fostering the next generation of scholars in the field. For more information about GSA, please visit http://www.genetics-gsa.org.

Read the original post:
Zebrafish Research Meeting to Highlight Advances in Genetics and Developmental Biology

Recommendation and review posted by Bethany Smith

(2012-08b) Ron Rothenberg - Inflammation, Hormones, Stem Cells Telomeres
W URL at: https://www.youtube.com/watch?v=h6JOZ6i6MBw Update in Preventive/Regenerative Medicine -- Inflammation, Hormones, Stem Cells and Telomeres- by Ron ...

By: Silicon Valley Health Institute

More here:
(2012-08b) Ron Rothenberg - Inflammation, Hormones, Stem Cells & Telomeres - Video

Recommendation and review posted by Bethany Smith