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UT Southwestern researchers uncover core function of gene involved in Fragile X syndrome

Researchers at UT Southwestern Medical Center have discovered how the genetic mutation that causes Fragile X syndrome, the most common form of inherited mental retardation, interferes with the "pruning" of nerve connections in the brain. Their findings appear in the April 29 issue of Neuron.

10 May 2010

Discovery of new genetic clues to breast cancer

Researchers at Cambridge University have identified five genetic clues for women who have a family history of breast cancer. The study brings up the number of common genetic variations linked to increased risk of breast cancer in women to 18. The study was published in Nature Genetics.

9 May 2010

Lake sworn in as UNICEF executive director

Anthony Lake, who "has been a foreign policy advisor to several Democratic U.S. presidents and presidential candidates," has officially become the executive director of UNICEF, Agence France-Presse reports (5/2). Lake was sworn into office Monday by U.N. Secretary-General Ban Ki-moon at the U.N. headquarters in New York, according to a UNICEF article (5/3).

5 May 2010

JGH researchers identify 13 new genes associated with osteoporosis, bone weakness

A team of international researchers has identified 20 genes associated with osteoporosis and bone weakness, including 13 genes never previously associated with the disease. Osteoporosis is a highly heritable trait, but this marks the largest international effort to conclusively identify genes linked to the often-devastating bone disorder.

4 May 2010

Cellular IPOD plays role in prion biology

Cells take advantage of a biologically ancient compartment to sequester prions, an action that can initially prevent the prions’ phenotypic expression, according to Whitehead Institute researchers. While in this compartment, less heritable prion plaques mature to a more transmissible state.

27 Apr 2010

Research findings may help personalize use of statins, scientists say

Researchers at NewYork-Presbyterian Hospital/Weill Cornell Medical Center have discovered why statins -- popular drugs that lower cholesterol and appear to protect against colorectal cancer development -- work for some people, but not for all.

22 Apr 2010

Children may inherit the urge to exercise, but environment often stops them from doing so

Children may inherit the urge to exercise, but their environment often stops them from doing so, say Cancer Research UK researchers.

21 Apr 2010

Researchers discover two genetic regions that influence birth weight

New research uncovers two genetic regions that influence birth weight. One of the regions is also associated with type 2 diabetes, which helps to explain why small babies have higher rates of diabetes in later life.

8 Apr 2010

Study finds link between BRCA mutations and contralateral breast cancer

Women with breast cancer before age 55 who carry an inherited mutation in the breast cancer susceptibility genes BRCA1 or BRCA2 are four times more likely to develop cancer in the breast opposite, or contralateral, to their initial tumor as compared to breast cancer patients without these genetic defects.

6 Apr 2010

Research may help scientists understand the mechanism behind cellular differentiation

Multipotent stem cells have the capacity to develop into different types of cells by reprogramming their DNA to turn on different combinations of genes, a process called "differentiation."

6 Apr 2010

Mutations in gene protecting body leads to development of cancer

An important gene that normally protects the body against cancer can itself cause a variety of cancers depending on the specific mutation that damages it, according to a new study by investigators at the Ohio State University Comprehensive Cancer Center-Arthur G. James Cancer Hospital and Richard J. Solove Research Institute (OSUCCC-James).

30 Mar 2010

Asuragen appoints BMD as exclusive distributor of Signature Oncology Products in France

Asuragen, Inc., a leader in the development of molecular diagnostics, announced today the appointment of Biomedical Diagnostics SA, a leading medical diagnostic company in Europe, as its exclusive distributor of Signature® Oncology Products in France. Asuragen’s Signature Oncology Portfolio comprises multiplex assays for the detection of mutations in solid and hematologic malignancies.

22 Mar 2010

Feelings of guilt and shame haunt mothers with eating difficulties

They would love to be perfect mothers. Instead, they feel ashamed and inadequate, and fearful that their children might inherit their eating difficulties.

18 Mar 2010

Fungi, like bacteria, can cause severe infections

Fungi have significant potential for "horizontal" gene transfer, a new study has shown, similar to the mechanisms that allow bacteria to evolve so quickly, become resistant to antibiotics and cause other serious problems.

18 Mar 2010

Alzheimer's disease: Gene expression level influences promotion of disorder or protection against development

Using sophisticated techniques that scan the genomes of patients, researchers at the Mayo Clinic campus in Florida have found that a gene appears to either help protect against development of Alzheimer's disease, or promote the disorder depending on the level of gene in the brain.

18 Mar 2010

Comparison study of genetic tests for ASD finds CMA with highest detection rate

The Autism Consortium, an innovative research, clinical and family collaboration dedicated to catalyzing research and enhancing clinical care for families with autism spectrum disorders (ASDs), announced today that the results of its comparison study of genetic testing methods for autism spectrum disorders is available from the journal Pediatrics through early online release in their eFirst pages today and will appear in the journal's April issue.

15 Mar 2010

ATS releases new clinical policy statement on CCHS

The American Thoracic Society has released a new official clinical policy statement on congenital central hypoventilation syndrome (CCHS), a disorder of respiratory and autonomic nervous system (ANS) regulation. The ANS regulates reflexive acts, including heart rate and blood pressure, digestion, body temperature and pain perception.

15 Mar 2010

New molecule effective against lice

French medical researchers from the AP-HP (Henri Mondor Hospital and Avicenne Hospital) and Inserm (Unit 738 "Models and methods for therapeutic evaluation of chronic illnesses" and CIC 202, at Tours) have recently demonstrated the effectiveness of a new molecule in the fight against lice. Faced with the emergence of increasing resistance to conventional treatments by these parasites, this new medication represents a real therapeutic alternative which is effective in 95% of cases.

12 Mar 2010

Whole genome sequencing of entire family beneficial

The Institute for Systems Biology (ISB) has analyzed the first whole genome sequences of a human family of four. The findings of a project funded through a partnership between ISB and the University of Luxembourg was published online today by Science on its Science Express website. It demonstrates the benefit of sequencing entire families, including lowering error rates, identifying rare genetic variants and identifying disease-linked genes.

11 Mar 2010

ISB uses Complete Genomics’ service to sequence genomes of four family members suffer from Miller syndrome

Complete Genomics Inc., a third-generation human genome sequencing company, today announced that the Institute for Systems Biology employed Complete Genomics’ human genome sequencing service to sequence a family quartet to determine the depth of genetic information possible in analyzing a full family’s sequence, and to verify the gene responsible for Miller syndrome, a rare craniofacial disorder.

11 Mar 2010