Category Archives: Genetic Medicine

Via Scoop.it – inPharmatics

Biopharmaceutical vendor AstraZeneca has launched a unified communications pilot using Microsoft Lync to improve collaboration among pharmaceutical sales reps, doctors and researchers.
Via mobile.eweek.com

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Via Scoop.it – inPharmatics

Biopharmaceutical vendor AstraZeneca has launched a unified communications pilot using Microsoft Lync to improve collaboration among pharmaceutical sales reps, doctors and researchers.
Via mobile.eweek.com

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http://microarray.wordpress.com/feed/

Via Scoop.it – inPharmatics

 Quintiles and the American Diabetes Association announced a strategic agreement in which Quintiles’ Digital Patient Unit will provide the Association’s millions of website users access to Quintiles’ medication monitoring service.

The Association’s constituents who opt in for the service will receive free safety checks of their medications to identify potential interactions and other risk factors, which are already provided to the 2.5 million registered users of Quintiles’ http://www.MediGuard.org. Registrants will also be eligible to participate in select direct-to-patient programs to benefit their medical conditions and advance global diabetes patient care.

The Association’s constituents may opt in to this service from the Association’s website http://www.Diabetes.org

Via http://www.quintiles.com

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NEW YORK

As the number of children with autism has increased over the past couple of decades, so have efforts to find causes behind this neurodevelopmental disorder. Research published Wednesday provides new clues about genetic glitches that may contribute to the development of autism among children.

Ten years ago, little was known about the role genetics plays in autism. But improved technology has allowed scientists to delve deeply into DNA to search for answers.

"Ten years ago [it was like] we were looking through binoculars, then we were looking at autism through a microscope, and now it's like looking at it in high definition," says Andy Shih, vice president of scientific affairs for the advocacy group Autism Speaks, who was not involved in the research.

Since the first human genome was sequenced in the early 2000s, researchers have had the opportunity to search for genes that cause the disorder, which affects an estimated 1 in 88 children in the United States.

Researchers were originally searching for a single gene that would cause the disorder, but they now believe it's much more likely that there are multiple genetic mutations that put a child at risk. By studying specific areas of the DNA of families that have a child with autism, scientists have identified approximately 1,000 genes that may be involved.

A person's whole genome consists of about 3 billion nucleotides, or letters, of DNA. But only 1.5% of it - a portion called the "exome" - produces proteins. The exome also harbors 85% of disease-causing mutations, according to the National Institutes of Health.

Three studies published in the journal Nature this week analyzed the exomes of parents and children with autism and found spontaneous genetic mutations in the exome play a significant role in raising a child's risk of developing autism.

One study looked at 238 families with one child with autism and one child without autism.

Life with autism: In their own words

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UW, other genetic research reveal pieces of autism puzzle

Newswise BUFFALO, NY American women of African ancestry are more likely than European Americans to have estrogen-receptor-negative (ER-negative) breast cancer. There continues to be discussion about the role of low levels of vitamin D in the development of breast cancer for these women. New research by a team from Roswell Park Cancer Institute (RPCI) and four other institutions has shown that specific genetic variations in the vitamin D receptor (VDR) and in CYP24A1 (responsible for deactivating vitamin D) are associated with an increase in breast cancer risk particularly for ER-negative breast cancer for African-American women.

When a team of researchers led by RPCI's Song Yao, PhD, Research Assistant Professor of Oncology, and Christine Ambrosone, PhD, Professor of Oncology and Chair of the Department of Cancer Prevention and Control, compared levels of vitamin D in the blood of women without breast cancer, they found that severe vitamin D deficiency in African-American women was almost six times more common than in European-American women. However, because low levels of vitamin D can also be caused by disease, or by treatment, the researchers decided to focus their studies on genetic variations in VDR and the enzymes responsible for breaking down vitamin D in the body.

The results, published in BioMed Central's open-access journal Breast Cancer Research, showed that African-American women with the highest levels of vitamin D also had a specific variation in VDR. Although this variation was present in European Americans, it was not associated with alteration in their levels of vitamin D. African-American women with the specific variation associated with the higher levels of vitamin D had half the risk of breast cancer compared to women without it.

When the researchers looked in detail at the patterns of genetic variation for women with ER-negative breast cancer, they found that seven SNPs in the gene coding for CYP24A1 were associated with ER-negative breast cancer risk, and that two of these seemed to account for the higher risk of ER-negative breast cancer in African-American women.

"While it is difficult to determine the exact effect of low levels of vitamin D on the risk of developing breast cancer," said Dr. Yao, "our results show that these genetic variations, which contribute to the function of vitamin D, are strongly associated with ER-negative breast cancer and may contribute to the more aggressive breast cancer features seen in African-American women."

Co-authors included researchers from the University of Pittsburgh Cancer Institute, Mount Sinai School of Medicine, New Jersey State Cancer Registry, and The Cancer Institute of New Jersey at the Robert Wood Johnson Medical School.

The abstract of the study, "Variants in the vitamin D pathway, serum levels of vitamin D, and estrogen receptor negative breast cancer among African-American women: a case-control study," is available at http://breast-cancer-research.com/content/14/2/R58/abstract; full article available on request.

Breast Cancer Research is an international peer-reviewed online journal publishing original research, reviews, commentaries and reports. BioMed Central (http://www.biomedcentral.com/) is an STM (science, technology and medicine) publisher that has pioneered the open-access publishing model. All peer-reviewed research articles published by BioMed Central are made immediately and freely accessible online, and are licensed to allow redistribution and reuse. BioMed Central is part of Springer Science+Business Media, a leading global publisher in the STM sector.

The mission of Roswell Park Cancer Institute (RPCI) is to understand, prevent and cure cancer. RPCI, founded in 1898, was one of the first cancer centers in the country to be named a National Cancer Institute-designated comprehensive cancer center and remains the only facility with this designation in Upstate New York. The Institute is a member of the prestigious National Comprehensive Cancer Network, an alliance of the nations leading cancer centers; maintains affiliate sites; and is a partner in national and international collaborative programs. For more information, visit RPCIs website at http://www.roswellpark.org, call 1-877-ASK-RPCI (1-877-275-7724) or email askrpci@roswellpark.org.

Continue reading here:
Genetic Variations Linked to Vitamin D May Affect Breast Cancer Risk in African Americans

PHILADELPHIA Researchers have long recognized that autism runs in families, suggesting a genetic component. Yet, few genes have so far been identified and the underlying genetic nature of autism how many genes contribute and to what extent they influence a person's chances of developing the disorder remains poorly understood.

Now, a consortium led by several institutions, including the Perelman School of Medicine at the University of Pennsylvania, has taken a step toward addressing these questions by searching for mutations in the fraction of the human genome that codes for proteins. The researchers sequenced this region, known as the exome, in 175 autism patients and their unaffected parents, looking for single-letter DNA changes present only in the children. Their results, along with simultaneously published findings from two other research groups, suggest modest roles for hundreds of genes in the development of autism and pinpoint a few specific genes as genuine risk factors. The work is described in a paper that appears online this week in Nature.

"The genetic basis of autism is incredibly complex, and progress has been slow and frustrating," says co-author Gerard Schellenberg, PhD, professor of Pathology and Laboratory Medicine. This study, using technology that has only become available in the past two years, is the start of finding genes that cause autism, and this work will help identify the underlying cause of this tragic disorder."

Schellenberg, co-author Li-San Wang, PhD, assistant professor of Pathology and Laboratory Medicine, and the Penn team performed some of the NextGeneration DNA sequencing used in the study.

The consortium focused its attention on a particular set of mutations, specifically single-letter mutations that are not present in the parents' DNA but instead appeared spontaneously in the children de novo point mutations. Although it is not yet clear exactly when these changes arise, such genetic variations tend to be rare but also more severe in their impact on gene function. With such extreme effects, they can serve as important signposts toward genes involved in autism. For more, see the summary from the lead institution, the Broad Institute of MIT and Harvard University.

The Perelman School of Medicine is currently ranked #2 in U.S. News & World Report's survey of research-oriented medical schools. The School is consistently among the nation's top recipients of funding from the National Institutes of Health, with $479.3 million awarded in the 2011 fiscal year.

The University of Pennsylvania Health System's patient care facilities include: The Hospital of the University of Pennsylvania -- recognized as one of the nation's top 10 hospitals by U.S. News & World Report; Penn Presbyterian Medical Center; and Pennsylvania Hospital the nation's first hospital, founded in 1751. Penn Medicine also includes additional patient care facilities and services throughout the Philadelphia region.

Penn Medicine is committed to improving lives and health through a variety of community-based programs and activities. In fiscal year 2011, Penn Medicine provided $854 million to benefit our community.

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DNA Sequencing Consortium Finds Patterns of Mutations in Autism, Highlighting Potential Risk Factors