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Committee recommends inclusion of genetic diseases in newborn screening program

The experts who make recommendations for genetic disease screening in newborns face a challenging task: To make conclusions based on the most authoritative available evidence, while considering gaps in the research on such rare conditions, as well as their human impact. An overview of the steps followed by the expert panels tasked with making these recommendations is presented in a special section of the current issue of Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

25 Mar 2010

Cardiologist receives grant to study impact of erectile dysfunction drugs on muscular dystrophy patients

A Cedars-Sinai Heart Institute cardiologist has been awarded a three-year, nearly $1 million grant from the Muscular Dystrophy Association (MDA) to study whether drugs used to treat erectile dysfunction could also be used to improve muscle blood flow and reduce fatigue in muscular dystrophy patients.

25 Mar 2010

Anesthesia can increase behavioral changes, risk of developing Alzheimer's disease

The use of repetitive anesthesia with isoflurane (one of the most common anesthetics by inhalation) increases the risk of developing changes similar to those observed in AD brains in mice with mutations of the amyloid precursor protein (APP). This is the main conclusion of Spanish researchers coordinated by Doctors Maria -ngeles Mena and Justo Garc-a de Y-benes, from CIBERNED (Centro de Investigaci-n Biom-dica en Red de Enfermedades Neurodegenerativas).

25 Mar 2010

Protein deficiency in Down syndrome patients could contribute to cognitive impairment and congenital heart defects

Conventional wisdom among scientists for years has suggested that because individuals with Down syndrome have an extra chromosome, the disorder most likely results from the presence of too many genes or proteins contained in that additional structure.

24 Mar 2010

Children with neurofibromatosis more likely to have cardiovascular problems

Researchers have discovered how a genetic disease known mainly for its life-threatening tumors also can cause sudden death from cardiovascular disease in children, and are mounting a clinical trial to develop treatments for the problem.

24 Mar 2010

ChemGenex shares falter as FDA requests more data on new leukemia drug

ChemGenex Pharmaceuticals Ltd. Shares fell most in the last 16 years to AUD$0.44 following a concern raised by the US drug regulators – US FDA. The FDA requested on Monday for more uniform clinical test data before they review and consider approval of the company’s new leukemia drug.

23 Mar 2010

FDA's ODAC voted to review T315I mutation prior to approval of OMAPRO

ChemGenex Pharmaceuticals Limited announced today that the U.S. Food and Drug Administration’s Oncologic Drugs Advisory Committee voted 7-1 that a validated test to identify the T315I mutation should be reviewed by the FDA prior to approval of OMAPRO™ (omacetaxine mepesuccinate).

23 Mar 2010

AARDA launches campaign on family AQ

In honor of the designation of March as National Autoimmune Disease Awareness Month by the U.S. Senate on March 4, 2010, the American Autoimmune Related Diseases Association (AARDA) wants to help you learn your family's AQ. AQ is a play on IQ that stands for Autoimmune Quotient. It's about knowing how likely you or a loved one is to develop an autoimmune disease, based on the prevalence of these diseases and your family history. The campaign features AARDA National Spokesperson and Actress Kellie Martin, best known for her memorable roles on "E.R." and "Life Goes On."

22 Mar 2010

Nanobotmodels animates future DNA repairing process

Nanobotmodels Company made detail animation of DNA-repair process using nanomechanical robot. You can see all stages of repair in this animation, based on DNA-nanorobot model.

22 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

Genetic study may help develop potential treatment strategies for stiff skin syndrome

By studying the genetics of a rare inherited disorder called stiff skin syndrome, researchers at the Johns Hopkins University School of Medicine have learned more about scleroderma, a condition affecting about one in 5,000 people that leads to hardening of the skin as well as other debilitating and often life-threatening problems.

20 Mar 2010

Breast cancer survivors at increased risk of developing second cancer: Study

Certain rare mutations in the ataxia telangiectasia mutated gene, combined with radiation exposure, may increase a woman's risk of developing a second cancer in the opposite breast, according to a study published online March 19 in the Journal of the National Cancer Institute.

20 Mar 2010

Major study shoots for personalized breast cancer drugs

Mutations in BCRA1 and BCRA2 genes are mainly associated with increased risk of breast cancer in women. Recently many other genetic variants have been found to be associated with breast cancer.

19 Mar 2010

Research group unveils new computational strategy for GWAS

In the ongoing quest to identify the genetic factors involved in disease, scientists have increasingly turned to genome-wide association studies, or GWAS, which enable the scanning of up to a million genetic markers in thousands of individuals.

19 Mar 2010

Global initiative for reducing time taken to introduce new combination TB treatments

Ahead of World TB Day, US Food and Drug Administration Commissioner Margaret Hamburg helped public and private sector partners launch a new collaboration to significantly accelerate the development of combination treatments for tuberculosis — and replace an almost 50-year-old drug regimen. Created by the Global Alliance for TB Drug Development, the Critical Path Institute, and the Bill & Melinda Gates Foundation, the initiative could potentially reduce the time it takes to introduce new combination TB treatments from as much as a quarter century to as few as six years.

19 Mar 2010

Study shows that steroids target hemangioma stem cells

Hemangiomas -- strawberry-like birthmarks that commonly develop in early infancy - are generally harmless, but up to 10 percent cause tissue distortion or destruction and sometimes obstruction of vision or breathing. Since the 1960s, problematic hemangiomas have been treated with corticosteroids such as dexamethasone or prednisone.

19 Mar 2010

FDA drafts new rules for testing, approving drug cocktails; Public-private partnership for TB treatment development launched

The FDA is drafting new guidelines for testing and approving multidrug cocktails for life-threatening diseases, the Wall Street Journal reports. "Many diseases, such as AIDS, tuberculosis and cancer, require multidrug combinations. Such drug cocktails can prevent the development of drug resistance, because the microbe or cancer cell needs to undergo more mutations to escape several drugs than to escape just one. By attacking the disease in different ways, drug combinations also improve the chances of therapeutic benefit," the newspaper reports (Schoofs, 3/18).

19 Mar 2010

Interfering with dickkopf 1 protein may help in controlling inflammatory bowel diseases

Signals released by immune cells during a bout of inflammatory bowel disease interfere with intestinal cells' ability to regenerate. Yet people with inflammatory bowel diseases have a significantly higher risk of developing colon cancer: a hyper-activation of growth in those same intestinal cells.

19 Mar 2010

Stiff skin syndrome cause found

18 Mar 2010

Researchers find some similarities between SPN and PET

Solid-pseudopapillary neoplasm (SPN) of the pancreas is relatively rare. There are some similarities between SPN and pancreatic endocrine tumor (PET), especially the non-functioning ones, in clinical and pathological manifestations.

18 Mar 2010

Mutation News and Research

Committee recommends inclusion of genetic diseases in newborn screening program

Cardiologist receives grant to study impact of erectile dysfunction drugs on muscular dystrophy patients

Anesthesia can increase behavioral changes, risk of developing Alzheimer's disease

Protein deficiency in Down syndrome patients could contribute to cognitive impairment and congenital heart defects

Children with neurofibromatosis more likely to have cardiovascular problems

ChemGenex shares falter as FDA requests more data on new leukemia drug

FDA's ODAC voted to review T315I mutation prior to approval of OMAPRO

AARDA launches campaign on family AQ

Nanobotmodels animates future DNA repairing process

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

Genetic study may help develop potential treatment strategies for stiff skin syndrome

Breast cancer survivors at increased risk of developing second cancer: Study

Major study shoots for personalized breast cancer drugs

Research group unveils new computational strategy for GWAS

Global initiative for reducing time taken to introduce new combination TB treatments

Study shows that steroids target hemangioma stem cells

FDA drafts new rules for testing, approving drug cocktails; Public-private partnership for TB treatment development launched

Interfering with dickkopf 1 protein may help in controlling inflammatory bowel diseases

Stiff skin syndrome cause found

Researchers find some similarities between SPN and PET

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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