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FDA accepts Psyadon Pharmaceuticals' ecopipam IND for treatment of LND

Psyadon Pharmaceuticals, Inc. today announced that the United States Food and Drug Administration (FDA) has accepted its Investigational New Drug Application (IND) to study ecopipam in patients with Lesch-Nyhan Disease (LND). The first center at which the drug will be evaluated is Emory University under the direction of Dr. Hyder A. Jinnah, MD, PhD. The study is designed to evaluate the safety and tolerability of different doses of ecopipam in adults (group 1), adolescents (group 2) and children (group 3) with LND.

9 Feb 2010

QIAGEN acquires global licence for PI3K gene to develop real-time-PCR and endpoint PCR assays

QIAGEN today announced that its wholly owned subsidiary DxS has acquired the global and exclusive licence for biomarker PI3K from Johns Hopkins University to develop real-time-PCR and endpoint PCR assays.

From QIAGEN Manchester Limited 8 Feb 2010

Mutation in alpha tectorin gene causes progressive childhood deafness

Deafness is the most common disorder of the senses. Tragically, it commonly strikes in early childhood, severely damaging an affected child's ability to learn speech and language. In many cases, children gradually lose their hearing to become profoundly deaf over a long period of months to years, but scientists know very little about how this progressive loss happens, making prospects for prevention and cure very slim.

8 Feb 2010

Gene linked to endometrial cancer identified

Endometrial cancer is the most common cancer of the female reproductive tract, representing 6% of all cancers. There is currently no screening method or biomarker to indicate early presence of disease. "It is a very common malignancy that affects women of all ages" comments paper author Dr. Diego Castrillon. The cancer forms from the cells that grow along the inner lining of the uterus, which is called the endometrium, and usually it is diagnosed following patient reports of abnormal bleeding.

8 Feb 2010

Marijuana ineffective against Alzheimer's disease in animal model

The benefits of marijuana in tempering or reversing the effects of Alzheimer's disease have been challenged in a new study by researchers at the University of British Columbia and Vancouver Coastal Health Research Institute.

8 Feb 2010

Breakthrough discovery could help in developing a broad spectrum of antiviral drugs

Within a virus's tiny exterior is a store of energy waiting to be unleashed. When the virus encounters a host cell, this pent-up energy is released, propelling the viral DNA into the cell and turning it into a virus factory.

6 Feb 2010

Spinal muscular atrophy screening, not cost effective

In a study to be presented today at the Society for Maternal-Fetal Medicine's (SMFM) annual meeting, The Pregnancy Meeting -, in Chicago, researchers will unveil findings that show that it is not cost effective to screen for spinal muscular atrophy.

5 Feb 2010

ARUP Laboratories adds three downstream cost calculators to its Suite of Utilization Management Services

ARUP Laboratories announced the release of three groundbreaking tools, downstream cost calculators, to its Suite of Utilization Management Services.

5 Feb 2010

Pfizer, DxS sign agreement to develop a diagnostic test kit for CDX-110 to treat patients with GBM

Pfizer Inc. and DxS (a wholly owned subsidiary of QIAGEN N.V.) today announced that they have entered into an agreement to develop a companion diagnostic test kit for PF-04948568 (CDX-110), an immunotherapy vaccine in development for the treatment of glioblastoma multiforme (GBM).

5 Feb 2010

Progenics Pharmaceuticals to present preclinical data of multiplex PI3K inhibitors

Progenics Pharmaceuticals, Inc. today announced the presentation of preclinical data on a series of novel compounds that simultaneously blocked two critical pathways involved in the growth and survival of cancer cells.

4 Feb 2010

BioMarin Pharmaceutical signs stock purchase agreement to acquire LEAD Therapeutics

BioMarin Pharmaceutical Inc. announced today that it has entered into a stock purchase agreement to acquire LEAD Therapeutics, Inc. (LEAD), a small private drug discovery and early stage development company with key compound LT-673, an orally available poly (ADP-ribose) polymerase (PARP) inhibitor for the treatment of patients with rare, genetically defined cancers.

4 Feb 2010

Around seven in every thousand morbidly obese people are missing part of their DNA

A small but significant proportion of morbidly obese people are missing a section of their DNA, according to research published today in Nature. The authors of the study, from Imperial College London and ten other European Centres, say that missing DNA such as that identified in this research may be having a dramatic effect on some people's weight.

4 Feb 2010

Study sheds new light on cancer metastasis

Some cells are natural rule-breakers. Neural crest cells for example, not only migrate throughout the body during development (most cells are more selective in their wandering), they are also more developmentally flexible than their predecessors (a no-no for nearly all cell types).

4 Feb 2010

New discovery lays foundation for development of new anti-HIV drugs

A team of scientists at The Scripps Research Institute has identified two compounds that act on novel binding sites for an enzyme used by the human immunodeficiency virus (HIV), the virus that causes AIDS.

4 Feb 2010

Anti-inflammatory plant derivative could play a role in cancer treatment, say MCG researchers

Medical College of Georgia researchers are seeking to refine cancer treatment with an anti-inflammatory plant derivative long used in Chinese medicine.

4 Feb 2010

Phase 2a clinical trial results of VX-809 in patients with CF announced

Vertex Pharmaceuticals Incorporated today announced results from a preliminary analysis of data from a 28-day Phase 2a clinical trial of VX-809 in patients with cystic fibrosis (CF) who are homozygous for the F508del mutation.

4 Feb 2010

Gene variants protect sexually-abused victims from alcohol dependence, says study

Exposure to severe stress early in life increases the risk of alcohol and drug addiction. Yet surprisingly, some adults sexually abused as children - and therefore at high risk for alcohol problems - carry gene variants that protect them from heavy drinking and its effects, according to researchers at Washington University School of Medicine in St. Louis.

3 Feb 2010

Researchers find three different degenerative brain disorders linked by toxic form of Elk-1 protein

For the first time, researchers from the University of Pennsylvania School of Medicine have found that three different degenerative brain disorders are linked by a toxic form of the same protein. The protein, called Elk-1, was found in clumps of misshaped proteins that are the hallmarks of Parkinson's disease, Alzheimer's disease, and Huntington's disease.

3 Feb 2010

Research suggests growth factor gene plays a central role in palate development

Cleft palate has been linked to dozens of genes. During their investigation of one of these genes, researchers at Washington University School of Medicine in St. Louis were surprised to find that cleft palate occurs both when the gene is more active and when it is less active than normal.

3 Feb 2010

Gene mutation can trigger preterm births, says study

Mutation of a gene that helps protect the body from genetic instability leads to cellular and molecular changes in the pregnant uterus that trigger premature birth, according to a study appearing online Feb. 1 in the Journal of Clinical Investigation.

2 Feb 2010

Mutation News and Research

FDA accepts Psyadon Pharmaceuticals' ecopipam IND for treatment of LND

QIAGEN acquires global licence for PI3K gene to develop real-time-PCR and endpoint PCR assays

Mutation in alpha tectorin gene causes progressive childhood deafness

Gene linked to endometrial cancer identified

Marijuana ineffective against Alzheimer's disease in animal model

Breakthrough discovery could help in developing a broad spectrum of antiviral drugs

Spinal muscular atrophy screening, not cost effective

ARUP Laboratories adds three downstream cost calculators to its Suite of Utilization Management Services

Pfizer, DxS sign agreement to develop a diagnostic test kit for CDX-110 to treat patients with GBM

Progenics Pharmaceuticals to present preclinical data of multiplex PI3K inhibitors

BioMarin Pharmaceutical signs stock purchase agreement to acquire LEAD Therapeutics

Around seven in every thousand morbidly obese people are missing part of their DNA

Study sheds new light on cancer metastasis

New discovery lays foundation for development of new anti-HIV drugs

Anti-inflammatory plant derivative could play a role in cancer treatment, say MCG researchers

Phase 2a clinical trial results of VX-809 in patients with CF announced

Gene variants protect sexually-abused victims from alcohol dependence, says study

Researchers find three different degenerative brain disorders linked by toxic form of Elk-1 protein

Research suggests growth factor gene plays a central role in palate development

Gene mutation can trigger preterm births, says study

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