Category Archives: Genetic Medicine

THURSDAY, Oct. 4 (HealthDay News) -- Researchers who discovered genetic risk factors linked to uterine fibroids in white women say their findings will lead to new screening and treatment methods for the condition.

Uterine fibroids are the most common type of pelvic tumor in women -- they occur in 75 percent of women of reproductive age -- and the leading cause of hysterectomy in the United States. Uterine fibroids can lead to abnormal vaginal bleeding, infertility, pelvic pain and pregnancy complications.

Researchers at Brigham and Women's Hospital in Boston analyzed genetic data from more than 7,000 white women and identified variations in three genes that are significantly associated with uterine fibroids.

One of these variations occurred in a gene called FASN, which encodes a protein called FAS (fatty acid synthase). Further investigation showed that FAS protein production was three times higher in uterine fibroid samples compared to normal tissue, according to the report published online Oct. 4 in the American Journal of Human Genetics.

Overproduction of FAS protein occurs in various types of tumors and is believed to be important for tumor cell survival, the study authors pointed out in a hospital news release.

"Our discovery foretells a path to personalized medicine for women who have a genetic basis for development of uterine fibroids," senior study author Cynthia Morton, director of the Center for Uterine Fibroids, said in the news release. "Identification of genetic risk factors may provide valuable insight into medical management," she concluded.

-- Robert Preidt

Copyright 2012 HealthDay. All rights reserved.

SOURCE: Brigham and Women's Hospital, news release, Oct. 4, 2012

Here is the original post:
Scientists Uncover Genetic Link for Uterine Fibroids

Public release date: 5-Oct-2012 [ | E-mail | Share ]

Contact: Jenny Eriksen Leary jenny.eriksen@bmc.org 617-638-6841 Boston University Medical Center

(Boston) Boston University School of Medicine (BUSM) investigators have led the first genome-wide evaluation of genetic variants associated with Parkinson's disease (PD). The study, which is published online in PLOS ONE, points to the involvement of specific genes and alterations in their expression as influencing the risk for developing PD.

Jeanne Latourelle, DSc, assistant professor of neurology at BUSM, served as the study's lead author and Richard H. Myers, PhD, professor of neurology at BUSM, served as the study's principal investigator and senior author.

A recent paper by the PD Genome Wide Association Study Consortium (PDGC) confirmed that an increased risk for PD was seen in individuals with genetic variants in or near the genes SNCA, MAPT, GAK/DGKQ, HLA and RIT2, but the mechanism behind the increased risk was not determined.

"One possible effect of the variants would be to change the manner in which a gene is expressed in the brains, leading to increased risk of PD," said Latourelle.

To investigate the theory, the researchers examined the relationship between PD-associated genetic variants and levels of gene expression in brain samples from the frontal cortex of 26 samples with known PD and 24 neurologically healthy control samples. Gene expression was determined using a microarray that screened effects of genetic variants on the expression of genes located very close to the variant, called cis-effects, and genes that are far from the variant, such as those on a completely different chromosome, called trans-effects.

An analysis of the cis-effects showed that several genetic variants in the MAPT region showed a significant association to the expression of multiple nearby genes, including gene LOC644246, the duplicated genes LRRC37A and LRRC37A2 and the gene DCAKD. Significant cis-effects were also observed between variants in the HLA region on chromosome 6 and two nearby genes HLA-DQA1 and HLA-DQA1. An examination of trans-effects revealed 23 DNA sequence variations that reached statistical significance involving variants from the SNCA, MAPT and RIT2 genes.

"The identification of the specific altered genes in PD opens opportunities to further study them in model organisms or cell lines with the goal of identifying drugs which may rectify the defects as treatment for PD," said Myers.

###

Follow this link:
BUSM study investigates genetic variants' role in increasing Parkinson's disease risk

By Randy Dotinga HealthDay Reporter

WEDNESDAY, Oct. 3 (HealthDay News) -- Researchers say they have developed a blood test that could potentially detect hundreds of genetic conditions in newborn babies in about two days. The test might allow physicians to quickly diagnose babies and treat them instead of waiting for lengthy tests or guessing without full information.

The test, which uses a drop of a newborn's blood to examine the entire genome, isn't ready for widespread use. A study released Oct. 3 reports only the results of testing that confirmed genetic conditions in three newborns.

The test could be available soon, however, said study co-author Dr. Stephen Kingsmore, director of the Center for Pediatric Genomic Medicine at the Children's Mercy Hospital in Kansas City, Mo.

"Genome analysis is moving from being a research tool that holds promise to being something that's ready to ... be used for real medical care in real patients," he said.

Newborns routinely undergo genetic screening in the United States to see if they have genetic conditions. The screenings, however, look for about 60 conditions at most, Kingsmore said, and focus on diseases that don't show obvious symptoms at first.

There are thousands of other genetic conditions -- many of them quite rare -- and about 500 can be treated. If a child shows symptoms of one of them, testing may take weeks and cost thousands of dollars, Kingsmore said. Physicians may base their diagnoses on other factors in order to treat children quickly, in some cases to keep them from dying.

"The reality is that neonatologists have to treat on the basis of their best clinical judgment rather than based on any knowledge of the genome sequence," Kingsmore said.

"If you liken testing to fishing, conventional fishing is like throwing a line into the ocean and hoping you catch a fish," he said. The new test, which looks for signs of genetic problems throughout the genome, "is like throwing a net over the entire ocean and seeing what you catch."

The test costs about $13,500 and takes 50 hours to process, although researchers hope to quicken the pace, he said. The new study reports that the test identified genetic conditions in three newborns and ruled them out in another.

Read the original here:
Genetic Disorder Test for Newborns May Speed Up Diagnoses

The European Union on Thursday set out proposals aimed at thwarting the illegal use of genetic resources and traditional medicine, a practice known as biopiracy.

A Europe-wide regulation would create "a level playing field for all users of genetic resources," the European Commission said in a press release that coincided with a UN conference on biodiversity in Hyderabad, India.

Developing countries, led by India, are complaining that pharmaceutical and cosmetic firms are using local species of plants and animals in their research or exploiting traditional medicine for their own gain.

Confusion on how genetic treasures and knowledge should be shared led in 2010 to the Nagoya Protocol, which members of the UN Convention on Biological Diversity (CBD) have pledged to pass into their national laws.

The draft EU regulation would require users to declare they have exercised "due diligence" in meeting the legal requirements in the country of origin and in showing that the benefits are "fairly and equitably shared," the commission said.

As part of the initiative, an EU database of "trusted collections" of seed banks and botanical gardens will be set up to inform users about the origins of genetic materials.

The proposed measures will be put to the European Parliament and the Council of Ministers, the 27-nation bloc's highest decision-making body.

More than a quarter of all approved drugs over the past 30 years are either natural products or have been derived from a natural product, the commission said.

The CBD meeting runs in Hyderabad until October 19, climaxing in a three-day meeting of environment ministers on a plan to roll back biodiversity decline by 2020.

Go here to read the rest:
EU unveils measures to combat biopiracy

Public release date: 4-Oct-2012 [ | E-mail | Share ]

Contact: Marjorie Montemayor-Quellenberg mmontemayor-quellenberg@partners.org 617-534-2208 Brigham and Women's Hospital

BOSTON, MAUterine fibroids are the most common type of pelvic tumors in women and are the leading cause of hysterectomy in the United States. Researchers from Brigham and Women's Hospital (BWH) are the first to discover a genetic risk allele (an alternative form of a gene) for uterine fibroids in white women using an unbiased, genome-wide approach. This discovery will pave the way for new screening strategies and treatments for uterine fibroids.

The study will be published online on October 4, 2012 in The American Journal of Human Genetics.

The research team, led by Cynthia Morton, PhD, BWH director of the Center for Uterine Fibroids and senior study author, analyzed genetic data from over 7,000 white women. The researchers detected genetic variants that are significantly associated with uterine fibroid status in a span of three genes including FASN which encodes a protein called FAS (fatty acid synthase).

Moreover, additional studies revealed that FAS protein expression was three times higher in uterine fibroid samples compared to normal myometrial tissue (muscle tissue that forms the uterine wall). Over-expression of FAS protein is found in various types of tumors and is thought to be important for tumor cell survival.

"Our discovery foretells a path to personalized medicine for women who have a genetic basis for development of uterine fibroids," said Morton. "Identification of genetic risk factors may provide valuable insight into medical management."

Study samples used were from various cohort studies, such as the Finding Genes for Fibroids study and the Women's Genome Health Study at BWH.

Uterine fibroids may lead to abnormal vaginal bleeding, infertility, pelvic pain and pregnancy complications. Uterine fibroids are found in more than 75 percent of women of reproductive age.

###

See more here:
BWH researchers discover genetic risk for uterine fibroids

ScienceDaily (Oct. 4, 2012) Uterine fibroids are the most common type of pelvic tumors in women and are the leading cause of hysterectomy in the United States. Researchers from Brigham and Women's Hospital (BWH) are the first to discover a genetic risk allele (an alternative form of a gene) for uterine fibroids in white women using an unbiased, genome-wide approach. This discovery will pave the way for new screening strategies and treatments for uterine fibroids.

The study will be published online on October 4, 2012 in The American Journal of Human Genetics.

The research team, led by Cynthia Morton, PhD, BWH director of the Center for Uterine Fibroids and senior study author, analyzed genetic data from over 7,000 white women. The researchers detected genetic variants that are significantly associated with uterine fibroid status in a span of three genes including FASN which encodes a protein called FAS (fatty acid synthase).

Moreover, additional studies revealed that FAS protein expression was three times higher in uterine fibroid samples compared to normal myometrial tissue (muscle tissue that forms the uterine wall). Over-expression of FAS protein is found in various types of tumors and is thought to be important for tumor cell survival.

"Our discovery foretells a path to personalized medicine for women who have a genetic basis for development of uterine fibroids," said Morton. "Identification of genetic risk factors may provide valuable insight into medical management."

Study samples used were from various cohort studies, such as the Finding Genes for Fibroids study and the Women's Genome Health Study at BWH.

Uterine fibroids may lead to abnormal vaginal bleeding, infertility, pelvic pain and pregnancy complications. Uterine fibroids are found in more than 75 percent of women of reproductive age.

Share this story on Facebook, Twitter, and Google:

Other social bookmarking and sharing tools:

Story Source:

Here is the original post:
Genetic risk for uterine fibroids identified