Category Archives: Genetic Medicine

18-12-2011 05:11 "By chance, the light-skinned coloured fish that I used for that research also taught us a lot about how Europeans, how humans became lighter skinned ... what Professor Cheng discovered was perhaps one of the most important genetic mutations ever found. A single change among literally billions of coded instructions within Zebrafish DNA that reduced black pigment from their stripes... Soon after this, identical genetic mutation was found in fair-skinned Europeans ... not only did white-skinned people evolve from black-skinned people, but lighter-skinned people, whether they're European, or whether they're Asian, ... we're actually mutants, of the dark-skinned people..." Nina Jablonski breaks the illusion of skin color http://www.ted.com Always Revealing, Human Skin Is an Anthropologist's Map http://www.nytimes.com

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6/7 Skin Deep - white-skinned people evolved from black-skinned people - Video

Life Technologies this week named Alan Sachs as head of global research and development and Ronnie Andrews as president of medical sciences.

Sachs was previously the vice president of exploratory and translational sciences for Merck Research Laboratories, where he spent 10 years in various leadership roles, Life Tech said. Prior to that Sachs served an associate professor of biochemistry and molecular biology at the University of California, Berkeley, and as a Whitehead fellow at the Whitehead Institute for Biomedical Research.

Andrews joins Life Tech from GE Molecular Diagnostics, where he served as a segment leader following GE's 2010 acquisition of Clarient, where Andrews was CEO. Andrews has also held executive positions with Abbott Diagnostics, Roche Diagnostics, and Immucor.

Stephen O'Brien has left the National Cancer Institute's Laboratory of Genomic Diversity after 25 years to help launch a genome bioinformatics program at St. Petersburg University in Russia. O'Brien received a $5 million grant from the Russian Ministry of Education and Science last year under a program that aims to lure big-name researchers to Russia. Over the coming three years, O'Brien will spend at least four months per year in Russia working at the center, which is scheduled to open in May.

Saladax Biomedical said today that President and CEO Edward Erickson has resigned due to personal and family reasons, and that he will be replaced by Kevin Harter on an interim basis. Erickson will remain a member of the company's board of directors. Harter is a co-founder and senior VP of the Life Sciences Greenhouse, and he has served as executive chairman at Saladax.

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Genetic Technologies, Eurofins STA Labs Settle Infringement Dispute

London, Feb 6 (ANI): Scientists have now identified a genetic variant that increases the risk of a common type of stroke.

This is one of the few genetic variants to date to be associated with risk of stroke and the discovery opens up new possibilities for treatment.

Several different mechanisms underlie strokes. One of the most common types is when blood flow is impaired because of a blockage to one or more of the large arteries supplying blood to the brain - large artery ischemic stroke. This accounts for over a third of all strokes.

Researchers from St George's, University of London and Oxford University, working with scientists from Europe, America and Australia, in one of the largest genetic studies of stroke to date, compared the genetic make-up of 10,000 people who had suffered from a stroke with 40,000 healthy individuals.

The researchers discovered an alteration in a gene called HDAC9, which affects a person's risk of large artery ischemic stroke. This variant occurs on about 10 per cent of human chromosomes.

Those people who carry two copies of the variant (one inherited from each parent) have nearly twice the risk for this type of stroke compared to those with no copies of the variant.

The protein produced by HDAC9 is already known to play a role in the formation of muscle tissue and heart development. However, the exact mechanism by which the genetic variant increases the risk of stroke is not yet known.

A better understanding of the mechanism could lead to new drugs to treat or prevent stroke; however, the researchers stress that this is still some way off.

"This discovery identifies a completely new mechanism for causing stroke," Professor Hugh Markus, from St George's, University of London, who co-led the study, said.

"The next step is to determine in more detail the relationship between HDAC9 and stroke and see whether we can develop new treatments that reduce the risk of stroke.

"Interestingly, there are already drugs available which inhibit the HDAC9 protein. However, it is important that we understand the mechanism involved before trialling the effects of these drugs on stroke."

The researchers went on to show that the new variant does not have the same effect on the risk of other types of stroke, which include bleeding in the brain (haemorrhagic stroke).

"Our study shows that the different subtypes of stroke could involve quite different genetic mechanisms," Professor Peter Donnelly, Director of the Wellcome Trust Centre for Human Genetics in the University of Oxford, who co-led the study, said.

"This is really fascinating, and if it holds up more generally, will move us closer to personalised medicine, where treatments and preventions can be tailored more precisely to individual patients."

According to Dr Peter Coleman, Deputy Director of Research at The Stroke Association, who funded collection of some of the samples used in this study, over a third of strokes are caused due to a blockage in one of the large blood vessels supplying blood to the brain (large artery stroke).

"Findings from this ground breaking study appear to show a genetic link which may affect a person's risk of large vessel stroke," Dr Coleman said.

"Further study is needed, but this research could potentially lead to new methods of screening and prevention for large vessel stroke, and ultimately, new methods of treatment," Dr Coleman added.

The study has been recently published online in Nature Genetics. (ANI)

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Genetic variant ups risk of common type stroke

MORRISTOWN — From across the globe each year, thousands of people who have trouble having a healthy baby travel to a nondescript office building in Morristown — the home of Reproductive Medicine Associates of New Jersey, headquarters for the largest medical practice of its kind in the nation.

Julia Horowitz, a 16-year-old sophomore at Watchung Hills Regional High School, found her way there, too, but she was driven by a different goal. The Warren Township teen, like a growing number of people, sought help to unlock her genetic code — something that could affect decisions she makes, including having a baby.

Julia has known since the fifth grade that she was born with a genetic abnormality that was detected while she was still in her mother’s womb. Frightened but determined, her parents, Karen Kessler and Robert Horowitz, stayed the course even after their obstetrician said many couples facing the same prospect had terminated their pregnancies. Kessler delivered her third child, a healthy daughter, on Nov. 12, 1995, naming her Julia Faith, "because we wanted to believe we had faith that we could handle whatever was coming our way," she said.

So far all’s well for Julia, an honors student and member of the Model UN and other academic clubs. But she decided last fall she didn’t want to wait until she was ready to start a family before she understood her DNA. With the help of her parents and the Morristown center, Julia embarked on a high-tech extracurricular activity: a mini-internship to learn about herself.

While most of the 5,000 patients treated every year by the multi-state practice are trying to overcome infertility, a growing number want to learn about their genetic history before they start a family, said Richard Scott, a reproductive endocrinologist who co-founded the practice.

The interest is on the rise because genetic research, much of it pioneered by Scott and his colleagues, can detect and even correct some problems. Obstetricians advise patients to screen to see if they are carriers of serious and potentially lethal diseases like cystic fibrosis and sickle cell anemia, said Scott.

"Part of the process of having a healthy family is understanding. There’s a lot of misunderstanding about our field. … It can be daunting, but it really does affect a lot of people. This is real-life stuff," Scott said.

HEALTH AT STAKE

Julia was born with a "balanced translocation," which occurs when a collection of genes, called a chromosome, breaks, and a portion of it reattaches to a different chromosome. When that happens, genetic matter may be lost. Julia’s goal was to find out whether the two affected chromosomes lost anything vital that would compromise her health.

"Each gene is like a short story," Scott said. "The chromosome is a book which contains a compilation of thousands of short stories along with the index and related information so that they can all be found and used easily."

When Julia was in the womb, geneticists knew how to identify balanced translocations, Scott said, but "there was nothing we could do about them beyond explaining to the couple why they might have a difficult time conceiving, have an increased risk for miscarriage" — and an increased risk of having a child with abnormalities.

"What has changed is our ability to assess that risk in advance," Scott said. "This improves outcomes dramatically for these couples and makes for healthy babies."

Scott added that with recent advances, some companies "will sequence your genome for you to see if they can determine your pre-disposition to all kinds of things — to diabetes or stroke or cancer, the list goes on and on. We don’t know exactly how to use all that information yet."

Julia’s mini-intership allowed the staff to learn from her while she was learning from them, Scott said.

She donned a lab coat and spent about 25 hours after school in September with lab supervisor Heather Garnsey, overseen by Nathan Treff, director of Molecular Biology Research. She took her blood to get a DNA sample, then stained, magnified and examined it in some 260,000 spots, making it easy to see something extra or missing.

"Dr. Scott and Heather assured me, because there were no clinical symptoms it was very unlikely there was going to be some shocking news," said Julia. "Still it was interesting to me throughout the entire process and still suspenseful."

Every day, Julia said, she couldn’t wait to share what she had learned with Darrin Wolsko, Watchung Hills High School biology teacher and science department supervisor.

Wolsko said when he tutored Julia in biology, her fascination for science and genetics in particular were evident, musing about "what if we could clone this or do that." But the experience of shadowing a genetic scientist and using cutting-edge technology to run tests ignited a passion that could shape the rest of her life, Wolsko said. "She sees a future in genetic medicine."

Scott said science cannot yet answer what translocations mean, or determine their full impact on life.

"Some of the questions Julia asked in her work are some of the ones that are being studied at the highest levels," Scott added. "This is not busy work."

‘VERY REASSURING’

The research ended as well as she could have hoped for. "At the end of the entire process, we were able to look and see there wasn’t any important information that was lost," Julia said. "That was very reassuring — something to ease my mind, and my mother’s and father’s."

But while the research showed the genetic defect won’t increase the likelihood of passing on problems if she gives birth, it still means Julia may have difficulty conceiving or carrying a child, Scott said. If that happens, "she is likely to end up back here, where we can make an embryo test-tube-baby style, grow it out to 200 or 300 cells, then take a cell out and test it to make sure there that it’s normal and balanced."

"The more she understands herself and the more we understand about her circumstances, it will be easier for her to navigate when she gets to that point in her life," he said. "She doesn’t have to fear it."

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Morristown fertility clinic helps teen with genetic defect unravel mysteries of her own DNA

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23-12-2011 02:33 KXAN Medical Minute -- Texas Oncology http://www.texasoncology.com

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Medical advice from Dr. Sandbach - Genetic Testing - Video