Category Archives: Genetic Medicine

Public release date: 31-May-2012 [ | E-mail | Share ]

Contact: Erin Tornatore erin.tornatore@childrens.harvard.edu 617-919-3110 Children's Hospital Boston

Boston, Mass. Using advanced technologies for rapidly sequencing and analyzing DNA from clinical and pathologic samples, a multidisciplinary research team consisting of geneticists, pathologists and surgeons at Boston Children's Hospital has identified the genetic basis for CLOVES syndrome, a rare congenital malformation and overgrowth disorder.

The discovery raises the hope that, for the first time, it will be possible to develop targeted medical treatments capable of delaying, reversing or possibly preventing CLOVES's debilitating consequences. Importantly, it also demonstrates the potential of advanced DNA sequencing technologies for identifying the underlying molecular roots of malformation disorders that are genetic but not hereditary.

The teamled by Matthew Warman, MD, director of the Orthopedic Research Laboratories at Boston Children's, and Kyle Kurek, MD, of the hospital's department of Pathology, and members of the hospital's Vascular Anomalies Centerreported the discovery today in the online edition of the American Journal of Human Genetics.

Some 90 children worldwide have been diagnosed with CLOVES (which stands for Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevis, Spinal/skeletal anomalies/scoliosis) since 2006, when the condition was first characterized by Boston Children's Ahmad Alomari, MD, and investigators at the National Institutes of Health. Alomari co-directs the Vascular Anomalies Center with Steven Fishman, MD, and John Mulliken, MD; all three are authors on the paper.

The clinical features of CLOVESin general a combination of fatty growths in the torso, vascular and skin anomalies, overgrowth in or deformities of limbs or extremities and spinal problems such as scoliosiscan vary greatly from child to child. Presently there is no cure for CLOVES, only surgical treatments aimed at alleviating symptoms or managing the syndrome's progression.

Until now, the exact nature of the genetic defect or defects that cause CLOVES has remained a mystery.

"CLOVES is dynamic, presenting itself in new ways all the time, even within the same patient," said Fishman, who with Alomari and others in the Vascular Anomalies Center has treated numerous children with CLOVES. "With this discovery we are optimistic that it will now be possible to develop treatments that take less of a shotgun approach and which could prevent the syndrome's progression."

The researchers started from the assumption that CLOVES is genetic but not inherited, because the syndrome always appears sporadically and is never passed from affected parents to their children; nor do the parents of affected children show signs of the syndrome.

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Researchers at Boston Children's Hospital identify a genetic cause for CLOVES syndrome

May 31, 2012

Connie K. Ho for RedOrbit.com

Nature versus nurture has always been a highly debated question in the sciences. This discussion has been seen in a research project focused on smoking, where scientists determined that genetics can play a role in how patients respond to treatments. Researchers from the Washington University School of Medicine found that genes can show how smokers will respond to medication to quit the habit; they found that gene variations that make it difficult to stop smoking will also make smokers respond to nicotine-replacement therapy and treatments.

The study, published in a recent issue of the American Journal of Psychiatry, found that it could be possible to predict how patients respond to drug treatments for smoking cessation in the future based on the gene variations.

Smokers whose genetic makeup puts them at the greatest risk for heavy smoking, nicotine addiction and problems kicking the habit also appear to be the same people who respond most robustly to pharmacologic therapy for smoking cessation, explained senior investigator Dr. Laura Jean Bierut, a professor of psychiatry, in a prepared statement. Our research suggests that a persons genetic makeup can help us better predict who is most likely to respond to drug therapy so we can make sure those individuals are treated with medication in addition to counseling or other interventions.

In the experiment, the scientists looked at data from 5,000 smokers who were involved in community-based studies as well as another 1,000 smokers who participated in a project focused on clinical treatment. The researchers examined the connection between participants ability to quit smoking successfully and genetic variations that had been related to dependence on nicotine and a habit of obsessively smoking. They found an interesting set of results in regards to those who had high-risk genetic markers.

People with the high-risk genetic markers smoked an average of two years longer than those without these high-risk genes, and they were less likely to quit smoking without medication, noted first author Dr. Li-Shiun Chen, an assistant professor of psychiatry at Washington University, in the statement.

Individuals who showed high-risk genetic variants in the clinical trial were three times more likely to respond to drug therapies that were designed to help people quit smoking.

The same gene variants can predict a persons response to smoking-cessation medication, and those with the high-risk genes are more likely to respond to the medication, continued Chen in the statement.

Both Bierut and Chen believe the findings show that the genetic variations can help explain why smokers may be addicted to nicotine, as they studied the same genes that determined heavy response and an intense response to nicotine-dependence treatments.

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Success Of Quitting Smoking Hinges On Genetic Variations

Want to know the secret to living over 100?

Researchers have long said its in their genes." But a new study from researchers at Albert Einstein College of Medicine and Ferkauf Graduate School of Psychology of Yeshiva University have found that having a positive outlook on life may also play a big role.

The findings, published online in the journal Aging, come from Einsteins Longevity Genes Project, which studied over 500 Ashkenazi Jews over the age of 95 and 700 of their offspring.

CBS News reported according to the researchers, approximately 53,000 Americans are over 100 years old, which is about 0.2 percent of the population.

The study found being outgoing, easygoing, enjoying laughter and staying engaged in activities was important for a long and healthy life.

"We really were not sure what got them to their advanced age," study co-author Dr. Nir Barzilai told U.S News and World Report's HealthDay. "Was it their personality, or something more in their genetics?"

"Our findings that these centenarians share such positive personality traits suggest that they may be associated with longevity," he added.

CBS News also noted that Barzilai and his team found people over 100 are more than twice as likely to have a certain variant of a gene called CETP.

That variant helps control cholesterol and fight dementia and could be the key to new future research in the area.

More from GlobalPost: Red wine anti-aging properties shown in new study

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The secret to living over 100 is optimism, genetic background

ScienceDaily (May 29, 2012) The discovery of a mummified Korean child with relatively preserved organs enabled an Israeli-South Korean scientific team to conduct a genetic analysis on a liver biopsy which revealed a unique hepatitis B virus (HBV) genotype C2 sequence common in Southeast Asia.

Additional analysis of the ancient HBV genomes may be used as a model to study the evolution of chronic hepatitis B and help understand the spread of the virus, possibly from Africa to East-Asia. It also may shed further light on the migratory pathway of hepatitis B in the Far East from China and Japan to Korea as well as to other regions in Asia and Australia where it is a major cause of cirrhosis and liver cancer.

The reconstruction of the ancient hepatitis B virus genetic code is the oldest full viral genome described in the scientific literature to date. It was reported in the May 21 edition of the scientific journal Hepathology by a research team from the Hebrew University of Jerusalem's Koret School of Veterinary Medicine, the Robert H. Smith Faculty of Agriculture, Food and Environment; the Hebrew University's Faculty of Medicine, the Hadassah Medical Center's Liver Unit; Dankook University and Seoul National University in South Korea.

Carbon 14 tests of the clothing of the mummy suggests that the boy lived around the 16th century during the Korean Joseon Dynasty. The viral DNA sequences recovered from the liver biopsy enabled the scientists to map the entire ancient hepatitis B viral genome.

Using modern-day molecular genetic techniques, the researchers compared the ancient DNA sequences with contemporary viral genomes disclosing distinct differences. The changes in the genetic code are believed to result from spontaneous mutations and possibly environmental pressures during the virus evolutionary process. Based on the observed mutations rates over time, the analysis suggests that the reconstructed mummy's hepatitis B virus DNA had its origin between 3,000 to 100,000 years ago.

The hepatitis B virus is transmitted through the contact with infected body fluids , i.e. from carrier mothers to their babies, through sexual contact and intravenous drug abuse. According to the World Health Organization, there are over 400 million carriers of the virus worldwide, predominantly in Africa, China and South Korea, where up to 15 percent of the population are cariers of the virus. In recent years, universal immunization of newborns against hepatitis B in Israel and in South Korea has lead to a massive decline in the incidence of infection.

The findings are the result of a collaborative effort between Dr. Gila Kahila Bar-Gal of the Hebrew University of Jerusalem's Koret School of Veterinary Medicine; Prof. Daniel Shouval of the Hadassah Medical Center's Liver Unit and Hebrew University; Dr. Myeung Ju Kim of Dankook University, Seok Ju Seon Memorial Museum; Dr. Dong Hoon Shin of Seoul National University, College of Medicine ; Prof Mark Spigelman of the Hebrew University's Dept. of Parasitology and Dr. Paul R. Grant of University College of London,Dept. of Virology.

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16th-century Korean mummy provides clue to hepatitis B virus genetic code

Statement Highlights:

EMBARGOED UNTIL 3 pm CT/4 pm ET, Tuesday, May 29, 2012

DALLAS, May 29, 2012 (GLOBE NEWSWIRE) -- Rapid advancements in genetic disease research necessitate innovative safeguards for patients, according to new American Heart Association policy recommendations published in Circulation, an American Heart Association journal.

Recent scientific progress includes the mapping of the entire human genetic code, or genome, which was completed in 2003, and new accelerated gene-sequencing techniques. These discoveries have led to cheaper, more readily available genetic tests, but regulations have lagged behind.

"The potential of the new technologies is incredible," said Euan A. Ashley, M.R.C.P., D.Phil., chair of the policy statement writing group and assistant professor of medicine in the Cardiovascular Division and director of the Center for Inherited Cardiovascular Disease at Stanford University School of Medicine, in Stanford, California.

"Genetic testing provides a tremendous opportunity but also a challenge in being responsible with that information," Ashley said. "If the information is available, how best do we use it to really improve care for individual patients?"

Focusing on heart and blood vessel diseases, the policy statement recommends:

In the modern era, gene sequencing simply involves observation of the natural world and not invention, therefore genes should not be patentable. The investigators cite a controversial case, now before the Supreme Court, of a company that patented the two primary genes -- BRCA1 and BRCA2 -- linked to an increased breast and ovarian cancer risk. The company has a monopoly on testing related to these genes and some believe this monopoly has reduced access to this test for women.

Establishing federal oversight of genetic tests

All genetic tests should be regulated for quality. The Food and Drug Administration (FDA) is well suited to this task because it has statutory authority, scientific expertise and experience in regulating genetic tests.

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Safeguards Against Misuse of Genetic Data Urged

27-05-2012 09:27 Special upload for webkinzgirle12 and turebeliever24 I DO NOT OWN THIS SHOW S05E14 Selective Breeding Lu treats a young patient with Bi-Polar disease which causes her to act hazardously violent. Her mother must decide whether to keep her or give her up to a mental institution. Meanwhile, Andy helps a woman have an invitro fertilization. She uses new technology to help the couple have a boy because of a genetic female-only disease in the family but later a web of lies and deceivements is revealed. Peter gets jealous when Kayla dates a man he volunteers for at a zoo.

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Strong Medicine ''Selective Breeding'' 1/2 - Video