Genes News and Research

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Large survey of genetic variation offers insights into human diseases

A large survey of human genetic variation, published today in the online version of the journal Science, shows that rare genetic variants are not so rare after all and offers insights into human diseases.

19 May 2012

Personal genetic test results does not drive overuse of expensive medical care

People have increasing opportunities to participate in genetic testing that can indicate their range of risk for developing a disease. Receiving these results does not appreciably drive up or diminish test recipients' demand for potentially costly follow-up health services, according to a study performed by researchers at the National Institutes of Health and colleagues at other institutions.

19 May 2012

Mount Sinai cancer researchers to present several landmark studies at ASCO meeting

Mount Sinai School of Medicine researchers will present several landmark studies, including data on treatment trends in late-stage cancer, a promising multiple myeloma vaccine, and predictive models of soft tissue sarcomas, prostate and bladder cancer, at the 2012 American Society of Clinical Oncology (ASCO) meeting June 1-5, 2012 in Chicago.

19 May 2012

Rare DNA variations may be responsible for differences in susceptibility to common disorders

One-letter switches in the DNA code occur much more frequently in human genomes than anticipated, but are often only found in one or a few individuals. The abundance of rare variations across the human genome is consistent with the population explosion of the past few thousand years, medical geneticists and evolutionary biologists report in the May 17 advanced online edition of Science.

19 May 2012

Promising updates in quest for early detection and treatments for lung cancer

LUNGevity Foundation, the nation's largest lung cancer-focused nonprofit, is pleased to note promising updates in researchers' quest for early detection and treatments for lung cancer during May, Lung Cancer Hope Month.

18 May 2012

Personal genetic test results don't drive overuse of expensive medical care

People have more and more chances to participate in genetic testing that can indicate their range of risk for developing a disease. Receiving these results does not appreciably drive up- or diminish-test recipients' demand for potentially costly follow-up health services, according to a new study in the May 17, 2012 early online issue of Genetics in Medicine.

18 May 2012

Regular eating times, extended daily fasting may prevent diabetes, obesity

It turns out that when we eat may be as important as what we eat. Scientists at the Salk Institute for Biological Studies have found that regular eating times and extending the daily fasting period may override the adverse health effects of a high-fat diet and prevent obesity, diabetes and liver disease in mice.

18 May 2012

Researchers identify novel base modification in RNA

Over the past decade, research in the field of epigenetics has revealed that chemically modified bases are abundant components of the human genome and has forced us to abandon the notion we've had since high school genetics that DNA consists of only four bases.

18 May 2012

RAL proteins linked with aggressive cancer characteristics in human tumors

We have known for years that when the proteins RalA and RalB are present, cells in dishes copy toward aggressive forms of cancer. However, until this week, no study had explored the effects of RAL proteins in human cancers - an essential step on the path to developing drugs to target these proteins.

18 May 2012

Researchers sequence genomes of 21 breast cancers

In two back-to-back reports published online on 17 May in Cell, researchers have sequenced the genomes of 21 breast cancers and analysed the mutations that emerged during the tumours' development. The individual results are described below.

18 May 2012

Breast cancer cell surface protein blows cover of potent tumor-generating cells

Breast cancer stem cells wear a cell surface protein that is part nametag and part bull's eye, identifying them as potent tumor-generating cells and flagging their vulnerability to a drug, researchers at The University of Texas MD Anderson Cancer Center report online in Journal of Clinical Investigation.

17 May 2012

Nottingham researchers lead largest ever research project into genetics of pre-eclampsia

Researchers from The University of Nottingham are leading the largest ever international research project into the genetics of the potentially fatal condition pre-eclampsia.

17 May 2012

CHOP researcher leads trial of ALK inhibitor in neuroblastoma, lymphoma

A pill designed to zero in on abnormal genes that drive specific cancers has produced encouraging early results in children with an uncommon but aggressive type of lymphoma, as well as in children with a rare form of neuroblastoma.

17 May 2012

Study reveals pathway that may help slow development of multiple myeloma

Researchers at NYU School of Medicine have identified a target for slowing the progression of multiple myeloma by using currently available drugs.

17 May 2012

Gene therapy restores movement in children bedridden with AADC

Using gene transfer techniques pioneered by University of Florida faculty, Taiwanese doctors have restored some movement in four children bedridden with a rare, life-threatening neurological disease.

17 May 2012

High-throughput sequencing can detect early signs of leukemia relapse

A study led by researchers at Fred Hutchinson Cancer Research Center has found that a next-generation, high-speed DNA-decoding technology called high-throughput sequencing can detect the earliest signs of potential relapse in nearly twice the number of leukemia patients as compared to flow cytometry, the current gold standard for detecting minimal residual disease.

17 May 2012

Project aims to find new diagnostic tools, drugs for triple negative breast cancer

Some types of breast cancer can be successfully treated with drugs such as tamoxifen, but treatment for a type of breast cancer more common in young and black women is still limited to radiation and general chemotherapy. Called triple negative breast cancer, this type of cancer is the focus of a 20-month, $8.6-million research project that aims to find new diagnostic tools and options for drugs.

17 May 2012

Early drug and alcohol use associated with lower levels of educational attainment

Researchers have found evidence that early drug and alcohol use is associated with lower levels of educational attainment.

17 May 2012

Scientists identify and prioritize genes associated with schizophrenia

An Indiana University-led research team, along with a group of national and international collaborators, has identified and prioritized a comprehensive group of genes most associated with schizophrenia that together can generate a score indicating whether an individual is at higher or lower risk of developing the disease.

16 May 2012

Age-adjusted melanoma on the rise

As the U.S. observes Skin Cancer Awareness Month in May, a report published in the April issue of Mayo Clinic Proceedings has some sobering news for young adults: The incidence of melanoma increased eightfold among young women and fourfold among young men from 1970 through 2009.

16 May 2012