Category Archives: Genetic Medicine

21-03-2012 13:09

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Individual Rights to Genetic Information—Issues for Medicine and Government - Video

20-03-2012 10:33 Dr. Richard Rainey, Executive Medical Director at Regence Blue Shield in Idaho, talks about some of the factors that go into coverage decisions as they relate to genetic testing, as well as some of the challenges that personalized medicine will present for payers.

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Dr. Richard Rainey Discusses Coverage Decisions in Relation to Genetic Testing - Video

WEDNESDAY, March 21 (HealthDay News) -- Men worried about encroaching baldness, take heart: A genetic analysis of tissue taken from both bald and hairier spots on men's scalps has identified a protein involved in male pattern hair loss.

The researchers note that drugs that inhibit the protein are already in development, and it's possible those drugs could one day be used to help men preserve their head of hair.

In the study, researchers from the Perelman School of Medicine at the University of Pennsylvania did an analysis of more than 25,000 genes and honed in on one that produces an enzyme that produces a protein known as PGD2. That protein is present in much higher levels in bald spots.

When scientists placed PGD2 on hair follicles in a petri dish, they found the protein inhibited hair growth.

Researchers then tested the protein on mice genetically engineered to lack a receptor for PGD2, and found that hair growth was unaffected. But when PGD2 was applied to mice that have a different receptor (GPR44), the mice grew less hair.

PGD2 is a type of prostaglandin, or a hormone-like substance known to be involved in many body functions, including regulating the contraction and relaxation of smooth muscle tissue. Drugs that inhibit PGD2, for example, are being studied for use in preventing airway constriction in asthma.

"Several companies have compounds in development that block the receptor for PGD2. Those compounds are being studied to treat asthma," said senior study author Dr. George Cotsarelis, chair and professor of dermatology at University of Pennsylvania School of Medicine in Philadelphia. "We think using these compounds topically . . . could slow down and possibly reverse baldness."

The study is published in the March 21 issue of the journal Science Translational Medicine.

About 80 percent of white men have some degree of hair loss before age 70, according to background information in the study. In balding men, hair follicles don't disappear, but they shrink and produce very small, even microscopic hairs, Cotsarelis explained.

The belief is that something is inhibiting the follicle from growing a normal hair. One of those factors seems to be PGD2, which was found near stem cells in the follicle, which are important in hair growth, Cotsarelis explained.

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Research Spots Potential New Target in Fight Against Baldness

Public release date: 21-Mar-2012 [ | E-mail | Share ]

Contact: Chris Gunter or Holly Ralston cgunter@hudsonalpha.org 256-327-0400 HudsonAlpha Institute for Biotechnology

HUNTSVILLE, Ala. -- When the intestines are not able to properly process our diet, a variety of disorders can develop, with chronic diarrhea as a common symptom. Chronic diarrhea can also be inherited, most commonly through conditions with genetic components such as irritable bowel syndrome. Researchers in Norway, India, and at the HudsonAlpha Institute for Biotechnology have identified one heritable DNA mutation that leads to chronic diarrhea and bowel inflammation.

Shawn Levy, Ph.D., faculty investigator at HudsonAlpha said, "Based on the effects seen from this one mutation, we are hopeful that the work will aid in understanding of much more common diseases like Crohn's and irritable bowel syndrome, which also have inflammation and diarrhea as symptoms."

The Norwegian family studied for the paper published today in The New England Journal of Medicine has 32 living members with a number of related inflammatory bowel conditions. Such a large family allowed scientists in Norway to use traditional genetic linkage methods to narrow down the potential DNA mutation to one portion of chromosome 12, and then to a specific gene called GUCY2C.

The Norway group asked Levy and his group at HudsonAlpha to confirm initial findings on this mutation as well as determine if there were other mutations that could contribute to the disorder. "Our exome sequencing was able to rule out other mutations and demonstrate that the one change in the GUCY2C gene was common to the disease," commented Levy.

The protein made from the GUCY2C gene is involved in transmitting specific chemical signals from food consumed to the cells inside our bowels. But the family members with chronic diarrhea have a mutation that makes the protein constantly "on," or transmitting much more signal than it should. Based on this new understanding, the scientists are now evaluating possible drug treatments based on the function of the affected protein. They can also recommend that GUCY2C be reexamined in more common bowel inflammation syndromes, as it may contribute to pathology for thousands of people worldwide.

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The article "Familial Diarrhea Syndrome Caused by an Activating GUCY2C Mutation," by Fiskerstrand et al. can be found at the website http://www.nejm.org.

The HudsonAlpha Institute for Biotechnology in Huntsville, Alabama, is the cornerstone of the Cummings Research Park Biotechnology Campus. The campus hosts a synergistic cluster of life sciences talent - science, education and business professionals - that promises collaborative innovation to turn knowledge and ideas into commercial products and services for improving human health and strengthening Alabama's progressively diverse economy. The non-profit institute is housed in a state-of-the-art, 270,000 square-ft. facility strategically located in the nation's second largest research park. HudsonAlpha has a three-fold mission of genomic research, economic development and educational outreach.

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Genetic mutation found in familial chronic diarrhea syndrome

18-01-2012 09:18 "Principles of Medical Biochemistry" condenses the information you need into a comprehensive, focused, clinically-oriented textbook. Drs. Gerhard Meisenberg and William H. Simmons covers the latest developments in the field, including genome research, the molecular basis of genetic diseases, techniques of DNA sequencing and molecular diagnosis, and more. An updated and expanded collection of figures and access to the fully searchable text, USMLE test questions, clinical case studies, more online at http://www.studentconsult.com make this the ideal resource for understanding all aspects of biochemistry needed in medicine. To learn more, please visit http://www.us.elsevierhealth.com

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Meisenberg: Principles of Medical Biochemistry, 3rd edition - Video

Dr. Charis Eng

For the promise of personalized medicine to be realized, the health industry needs more people who can interpret genetic data and make that data meaningful to patients, according to a prominent Cleveland Clinic geneticist.

The ability to tailor treatment to a patients genetic profile plus, the rapidly declining cost of technology to analyze genetic data holds lots of possibilities for improving health, but also brings risks, according to Dr. Charis Eng, chair of Cleveland Clinics Genomic Medicine Institute.

For example, data analyzed incorrectly could be dangerous, while data presented badly could create unjustified fears in patients, Eng told MIT Technology Review.

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The people who are very facile at interpreting [information] to the patient are very few and far between, she said.

Eng spoke with Technology Review about a recent paper in the journal Cell, in which a Stanford University genetics professor for two-and-a-half years tracked a host of his own personalized health data at the molecular level. This article reminds us that the future is now, Eng said.

Eng placed at No. 31 in MedCity News list of the The 50 best Cleveland Clinic doctors. Ever. In 2010, she was elected to the Institutes of Medicine.

Her research has led to the discovery of three genetic mutations that are linked to thyroid cancer.

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Geneticist: We need more people who can explain genetic data to patients