Archive for November, 2014

PUBLIC RELEASE DATE:

18-Nov-2014

Contact: Nancy Solomon solomonn@slu.edu 314-977-8017 Saint Louis University

A new treatment for Marfan syndrome, a rare genetic disease that can lead to heart problems, works as well as the currently recommended medical therapy, beta blockers, according to an article in the New England Journal of Medicine.

Angela Sharkey, M.D., professor of pediatrics at Saint Louis University, and a study author, said researchers found losartan, which had been more effective in an animal model of Marfan syndrome, was equally effective to a high dose of the beta blocker atenolol.

"While there may be certain patients who respond better to one drug or another, we found no evidence that losartan is superior to atenolol, a beta blocker currently prescribed for Marfan syndrome," said Sharkey, who was honored earlier this year as the Marfan Foundation's Hero with a Heart. "Losartan appears to be a reasonable alternative treatment for patients who can't take beta blockers, which could give physicians another option to treat a rare and debilitating genetic disease."

Both medications are designed to relax the blood vessels so the heart doesn't have to work as hard to pump blood through the body. Atenolol slows the heart rate, which decreases blood pressure and losartan prevents certain natural substances in the body from tightening the blood vessel walls.

The multi-site, NIH-funded trial followed 608 patients between ages 6 months and 25 years who had enlarged aortas (the main artery carrying blood to the body) for three years. All received either losartan, the investigational medication, or a higher dose of atenolol than is typically prescribed.

Patients in both treatment groups showed no difference in the rate of growth of their aortas.

Additionally, the incidence of aortic-root surgery, aortic dissection, or death did not differ between treatment groups.

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Investigational drug may offer another option to treat Marfan syndrome

Are people born gay or is it a choice? A new study of gay brothers, the largest to date, adds more scientific evidence that theres a genetic basis for homosexuality.

A genetic analysis of over 409 pairs of gay brothers found that two areas of the human genome, a portion of the X chromosome and a portion of chromosome 8, were associated with the mens sexual orientation. The findings gel with a smaller study conducted in 1993 that implicated the same area of the X chromosome.

Before proceeding, its important to be clear that this study did not discover a gay gene. The regions they identified contain many different genes, so scientists still have a lot of searching to do before finding the specific genes that underlie sexual orientation. With that said, heres how scientists established a broad genetic link.

Over several years, the studys lead author Alan Sanders, of the NorthShore Research Institute in Illinois, collected blood and saliva samples from 409 pairs of gay brothers, including sets of non-identical twins. Then, researchers went through each mans samples looking for unique genetic markers shared by all men in the study.

The 818 men varied in hair color, height, intelligence and other physical attributes. So each man had unique genetic markers matching their unique traits. The one thing they did have in common was that they were all gay. Therefore, if the same genetic variants are found in the same spots in each man, theres reason to believe these places have something to do with sexual orientation.

The two most frequently shared genetic markers were from the Xq28 region on the X chromosome and the 8q12 region on the 8 chromosome. This commonality suggests theres a genetic link for male homosexuality. They published their findings Monday in the journal Psychological Medicine.

One of the primary weaknesses of the study, as pointed out by Sciences Kelly Servick, is that researchers used a type of analysis, genetic linkage, thats been phased out by more precise techniques.

Genetic linkage studies only identify relationships between broad regions that could contain hundreds of different genes. Today, the linkage technique has been replaced by genome-wide association studies, which identify specific genes associated with traits being studied.

According to the Associated Press, other researchers have questioned the data as well:

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Study of Gay Brothers Suggests Genetic Basis of Male Homosexuality

PUBLIC RELEASE DATE:

18-Nov-2014

Contact: Karen Astle karen.astle@heart.org 214-706-1392 American Heart Association @HeartNews

Adults counseled on their genetic risk of coronary heart disease believe they have more control over their fate, according to research presented at the American Heart Association's Scientific Sessions 2014.

Researchers examined the impact of disclosing risk of 10-year heart disease with or without genetic risk information to 207 patients (48 percent male, average age 58) participating in Myocardial Infarction GENES (MI-GENES), a randomized controlled study.

The study's key elements included a risk score based on established risk factors and a genetic risk score based on 28 single nucleotide polymorphisms; risk disclosure by a genetic counselor in a 30-minute session; and two questionnaires about patient satisfaction - perceived personal control and genetic counseling satisfaction.

Researchers found that patients who received the genetic risk information had a higher perceived personal control value compared to those who didn't (8.85 vs. 8.54). Patients who received genetic risk information also reported a higher genetic counseling satisfaction (9.08 vs. 8.3).

"We have shown that disclosure of genetic risk led to increased perceived personal control and counseling satisfaction, which are associated with the increased likelihood of adopting healthier behaviors that may reduce coronary heart disease risk," said Christopher L. Robinson, lead author of the study. MI-GENES Study information (PDF)

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Christopher L. Robinson, M.D. candidate at Saint Louis University School of Medicine, St. Louis, Missouri

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Patients counseled on genetic heart disease risk feel they have more control over fate

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Newswise November 19, 2014, New York, NY A team led by Ludwig and Memorial Sloan Kettering (MSK) researchers has published a landmark study on the genetic basis of response to a powerful cancer therapy known as immune checkpoint blockade. Their paper, in the current issue of the New England Journal of Medicine, describes the precise genetic signatures in melanoma tumors that determine whether a patient will respond to one such therapy. It also explains in exquisite detail how those genetic profiles translate into subtle molecular changes that enable the immune system attack of cancer cells in response to immune checkpoint blockade.

The genetic signature we have found will be invaluable to understanding the biological mechanisms that drive therapeutic responses to immunotherapy for metastatic melanoma, says Jedd Wolchok, MD, PhD, director of the Ludwig Collaborative Laboratory and associate director of the Ludwig Center for Cancer Immunotherapy at MSK, who co-led the study with Timothy Chan, MD, PhD, of MSKs Human Oncology and Pathogenesis Program. Further, our strategy can now be applied to determine the genetic signatures associated with the efficacy of a number of other immunotherapies and cancers.

Few approaches to treating cancer have generated as much excitement as immunotherapy, in which the immune system is engaged to destroy malignancies. One class of such treatments targets CTLA-4, a molecule expressed on the surface of killer T cells that ordinarily blocks their proliferation. Antibody drugs that block CTLA-4 thus stimulate killer T cell responseswhich can target cancer cellsand significantly extend survival for many melanoma patients. Yet not all patients respond equally to this treatment: some, remarkably, survive many years; others fail to respond at all.

There is a subset of melanoma patients who are living far longer than anyone would have expected in the past, largely because of this treatment and other recently developed targeted and immunologic treatments, says Wolchok. But we did not know how to identify them, and thats what really drove this investigation.

Cancer cells are swift but sloppy proliferators, generating countless mutations across their genome as they multiply. Those mutations are often expressed as changes in the chains of amino acids that make protein molecules. Like all cells, cancer cells chop up and hold out short fragments of such proteinseach about 9 amino acids in lengthfor the immune system to assess. These peptides are held up and presented to immune cells by a protein complex known as MHC Class I, which varies significantly between people.

Previous studies by Jedd and others had shown that the particular MHC type of a patient doesnt appear to influence the efficacy of CTLA-4 blockade, says Chan. So we decided to see if the tumor genome has anything to say about whether or not people respond to this therapy. The result was entirely unexpected, and the answer is exceedingly important.

Chan, Wolchok and their colleagues initially hypothesized that tumors that harbored highly mutated cells would be most responsive to CTLA-4 blockade. To test that hypothesis, they sequenced and compared all of the genes expressed as proteins (collectively known as the exome) in tumors taken from 25 patients treated with anti-CTLA-4 antibodies and found that this was, to some degree, true. But looking at the data a little more deeply, says Wolchok, we saw that there were outlierspatients who had over one thousand mutations who didnt respond, and some with just a few dozen who did. This was a strong indication that the quality of the mutations matters.

A sophisticated computational analysis of the cancer genomes revealed that a set of core peptide sequenceseach four amino acids long (tetrapeptides)within MHC Class I-presented peptides were unequivocally associated with response to treatment. To test the prognostic power of this genetic signature, the researchers sequenced the exomes of tumors from another 39 melanoma patients treated with CTLA-4 blockade. They found that all those in this set who had responded to the therapy had at least one and typically several more of the tetrapeptides they had identified. Those who failed to respond did not. Their results show that the mutant DNA sequences, can occur anywhere in the genomenot just within mutant driver genes that are already known to contribute to cancer.

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A Signature for Success

Let #39;s Play: The Sims 3 Perfect Genetics Challenge (Part 3)- Skill Day
In this part we do some house renovating and have skill day. Please Like, Share and Subscribe!

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I got me a new workout partner | Genetics
At the commercial gym doing bent over rows.

By: Herbie Sherman

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Fertility Center Applied Genetics Sarasota Perfect Five Star Review
http://GeneticsAndFertility.com 941-342-1568 Fertility Center Applied Genetics Sarasota reviews 5 Star Rating Dr. Pabon is a wonderful clinician and has an amazing bedside...

By: Julio E. Pabon, MD, PA / Fertility Center and Applied Genetics of Florida

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Could There Be A Predisposition Weakness To The Ebola Virus Based On Genetics?
Could There Be A Predisposition Weakness To The Ebola Virus Based On Genetics? Ebola Doctor Surgeon Martin Salia Died Today In Nebraska 100 Percent of Black Males With Ebola In U.S. Have ...

By: Charles Walton

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How can GENETICS revolutionize medicine?
In 2003, researchers first sequenced the human genome. Since then our understanding of human genetics has exploded. How will this biological revolution actually improve medical care for you...

By: CuriousMinds

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Bobby Gaspar: "Translational research in the ex vivo gene therapy of monogenic diseases"
Educational Day* at ESGCT Conference in Madrid. "Translational research in the ex vivo gene therapy of monogenic diseases". Bobby Gaspar, Professor of Paedi...

By: European Society for Gene and Cell Therapy

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Ruben Hernandez: "Recent developments in the gene therapy of solid tumours"
Educational Day* at ESGCT Conference in Madrid. Rubn Hernndez, PI in Cancer Gene Therapy at Universita de Nvarra (University of Navarra, Spain) gives a le...

By: European Society for Gene and Cell Therapy

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Odile Cohen: "Ethic issues in cell and gene therapy"
Dr Odile COHEN HAGUENAUER, MCU-PH at Hpital Saint-Louis and School of Medicine at Denis Diderot University (Paris 7), talks about "Ethical Issues in Cell an...

By: European Society for Gene and Cell Therapy

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Personalized Gene Therapy Reducing HIV In Some Patients
For the first-time ever, doctors at the University of Pennsylvania have successfully used personalized gene therapy in a dozen patients with HIV, knocking the virus down to the point where...

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Personalized Gene Therapy Reducing HIV In Some Patients - Video

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Newswise UCLA stem cell researchers have pioneered a stem cell gene therapy cure for children born with adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID), often called Bubble Baby disease, a life-threatening condition that if left untreated can be fatal within the first year of life.

The groundbreaking treatment was developed by renowned stem cell researcher and UCLA Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research member Dr. Donald Kohn, whose breakthrough was developed over three decades of research to create a gene therapy that safely restores immune systems in children with ADA-deficient SCID using the patients own cells with no side effects.

To date, 18 children with SCID have been cured of the disease after receiving the stem cell gene therapy in clinical trials at UCLA and the National Institutes of Health.

All of the children with SCID that I have treated in these stem cell clinical trials would have died in a year or less without this gene therapy, instead they are all thriving with fully functioning immune systems said Kohn, a professor of pediatrics and of microbiology, immunology and molecular genetics in Life Sciences.

To protect children born with SCID they are kept in isolation, in controlled environments because without an immune system they are extremely vulnerable to illness and infection that could be lethal.

Other current options for treating ADA-deficient SCID are not always optimal or feasible for many children, said Kohn. We can now, for the first time, offer these children and their families a cure, and the chance to live a full healthy life.

Defeating ADA-Deficient SCID: A Game-Changing Approach

Children born with SCID, an inherited immunodeficiency, are generally diagnosed at about six months. They are extremely vulnerable to infectious diseases, and in a child with ADA-deficient SCID even the common cold can prove fatal. The disease causes cells to not create an enzyme called ADA, which is critical for production of the healthy white blood cells that drive a normal, fully-functioning immune system. About 15 percent of all SCID patients are ADA-deficient.

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UCLA Stem Cell Researcher Pioneers Gene Therapy Cure for Children with "Bubble Baby" Disease

LOS ANGELES (KABC) --

In bright daylight, 10-year-old Mark Devoe has no trouble seeing his friends. But inside or even in the shade, Mark's eyes sometimes don't work.

"I have trouble seeing like, trees, when the road ends, and when there's like a drop there," said Mark.

At age 6, Mark's doctors diagnosed him with the genetic condition choroideremia, which causes people to progressively lose vision until they are completely blind.

"I don't know what it's like to live in darkness, but I've seen it," said Susan Devoe, Mark's mother.

Susan is a carrier of the blindness gene. Mark's grandfather has the condition.

"Watching my father go blind was devastating," said Susan. "I was a little girl. You know, you count on daddy to do things, and daddy couldn't do them."

Dr. Jean Bennett is one of two U.S. researchers preparing to test a gene therapy for choroideremia in humans.

"I think gene therapy holds a huge promise for developing treatments for blinding diseases," said Bennett.

Researchers will use a virus carrying a small choroideremia gene and inject the virus just under the retina. The gene should begin to work in a few weeks.

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Gene treatment promising in fight against degenerative blindness

The gene therapy that has seemingly cured a 2-year-old girl could be used to treat other diseases, like Sickle Cell Anemia.

UCLA DR. DONALD KHON has perfected the treatment that has now affected the lives of over a dozen families, including the parents of Evangelina, who was born with the deadly SCID. The immune system disease is known by its common name, Bubble Baby disease, because the children have to live in bubbles, since their immune systems do not function. Most die within the first year of life, unless they can get and survive a bone marrow transplant.

Evangelina's twin sister, Annabella, was not a bone marrow transplant. So Dr Kohn included the sick twin in his study, transfering the patient's own bone marrow to the child. At two, her immune system is working well.

It's a difficult and time consuming process, but it seems to work. The same procedure could work with other blood diseases that are curable with bone marrow transfusions. That includes sickle cell anemia, which will be the focus of the next trial.

The implications are huge, as there are 30 or 40 diseases where the treatment could work.

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Bubble Baby: Gene Therapy Cured 2-year-old Girl Of Deadly SCID At UCLA

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Newswise UCLA stem cell researchers have pioneered a stem cell gene therapy cure for children born with adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID), often called Bubble Baby disease, a life-threatening condition that if left untreated can be fatal within the first year of life.

The groundbreaking treatment was developed by renowned stem cell researcher and UCLA Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research member Dr. Donald Kohn, whose breakthrough was developed over three decades of research to create a gene therapy that safely restores immune systems in children with ADA-deficient SCID using the patients own cells with no side effects.

To date, 18 children with SCID have been cured of the disease after receiving the stem cell gene therapy in clinical trials at UCLA and the National Institutes of Health.

All of the children with SCID that I have treated in these stem cell clinical trials would have died in a year or less without this gene therapy, instead they are all thriving with fully functioning immune systems said Kohn, a professor of pediatrics and of microbiology, immunology and molecular genetics in Life Sciences.

To protect children born with SCID they are kept in isolation, in controlled environments because without an immune system they are extremely vulnerable to illness and infection that could be lethal.

Other current options for treating ADA-deficient SCID are not always optimal or feasible for many children, said Kohn. We can now, for the first time, offer these children and their families a cure, and the chance to live a full healthy life.

Defeating ADA-Deficient SCID: A Game-Changing Approach

Children born with SCID, an inherited immunodeficiency, are generally diagnosed at about six months. They are extremely vulnerable to infectious diseases, and in a child with ADA-deficient SCID even the common cold can prove fatal. The disease causes cells to not create an enzyme called ADA, which is critical for production of the healthy white blood cells that drive a normal, fully-functioning immune system. About 15 percent of all SCID patients are ADA-deficient.

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UCLA Stem Cell Researcher Pioneers Gene Therapy Cure for Children with "Bubble Baby" Disease

NEW YORK (TheStreet) -- Shares ofNeoStem (NBS) plummeted 25.52% to $5.05 in late morning trading Tuesdayafter the biotech company announced poor results from a trial of its proprietary cardiac stem-cell therapy NBS10.

NBS10, which used to be called AMR-001, missed two primary endpoints in the study to test the therapy's efficacy.The stem-cell therapy comesfrom a patient's own bone marrow and is injected into patients after a heart attack. The stem cells are then supposed to help blood flow and build cardiac muscle.

NeoStem's trial used non-invasive imaging to monitor blood flow through the heart six months after a one dose of NBS10 or a placebo. The study showed no difference between NBS and placebo, NeoStem said.

Must Read:NeoStem's Stem Cell Therapy Fails Mid-Stage Heart Attack Study

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NeoStem (NBS) Stock Plummets Today on Disappointing Cardiac Stem-Cell Therapy Data

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WESTWOOD (CBSLA.com) Doctors say a groundbreaking stem cell therapy treatment out of UCLA may have cured Bubble Baby syndrome once and for all.

KNX 1070s Brian Ping reports Dr. Donald Kohn has perfected a gene therapy that has now cured 18 children born without an immune system, known as ADA-deficient severe combined immunodeficiency (SCID).

Only weeks after giving birth to fraternal twins in 2012, Alysia and Christian Padilla-Vaccaro found out their daughter Evangelinas immune system was so deficient that she could have no exposure to the outside world.

After enrolling their daughter in Dr. Donald Kohns revolutionary stem cell gene therapy treatment which was nearly three decades in the making doctors extracted stem cells from the bone marrow in Evangelinas hip, then used a modified mouse virus to correct her faulty gene before replacing the marrow.

You hear the words mouse virus and you want to run the other way, said mom Alysia. But they modify it so that its teaching it to do something that they want it to do, which is put something in there that was missing.

Evangelinas new immune system developed without side effects and she is now living a healthy normal life.

Her mother Alysia said while the process was difficult for any mom to go through, it was all worth it.

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UCLA Doctors Hail Potential Cure For Bubble Baby Syndrome

Turning the Tide Against Cancer 2014 Welcome and Introductory Remarks
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Piuma Nanoindenter in action
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Surviving Lung Cancer Thanks to Personalized Medicine
Diagnosed with stage IV lung cancer in 2011, Deb Smith who has never smoked turned to clinical trials and personalized cancer medicine to control her dis...

By: American Association for Cancer Research

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The Nancy and Stephen Grand Israel National Center for Personalized Medicine
Personalized medicine is about people, and in this video, people talk about personalized medicine specifically, the Weizmann Institute #39;s just-dedicated Nan...

By: American Committee for the Weizmann Institute of Science

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What Kind of Challenges Do Spinal Injury Patients Face?
There are different types of back injury that can cause devastating effects. Depending on what part of the spine is injured can affect the victim #39;s symptoms, possibly leading to breathing...

By: Doehrman Buba

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What Kind of Challenges Do Spinal Injury Patients Face? - Video

What Money Damages Can a Spinal Cord Victim Recover?
How can a lawyer help someone with a spinal cord injury? If someone else played a role in the accident, then victims could receive compensation to cover medical bills, home modifications, wheelchai...

By: Doehrman Buba

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What Money Damages Can a Spinal Cord Victim Recover? - Video