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Two genetic factors strongly associated with non-syndromic sagittal craniosynostosis

An international team of geneticists, pediatricians, surgeons and epidemiologists from 23 institutions across three continents has identified two areas of the human genome associated with the most common form of non-syndromic craniosynostosis ― premature closure of the bony plates of the skull.

18 Nov 2012

Myasthenia gravis therapies: an interview with Professor Daniel Drachman

Myasthenia gravis (MG) is an autoimmune disease that produces weakness and fatiguability of muscles. It affects between 1 and 7 people per 10,000, according to the best statistics.

15 Nov 2012

MRC funds largest ever study of genetics relating to lung disease

Researchers from the Universities of Nottingham and Leicester are leading the largest ever study of the genetics relating to lung disease.

15 Nov 2012

Weight-based ribavirin undertreats African–American HCV patients

African–Americans with hepatitis C virus genotype 1 infections have lower ribavirin plasma exposures than Caucasian Americans when treated with weight-based ribavirin plus peginterferon.

12 Nov 2012

Studies provide first clues of balanced de novo chromosomal rearrangements

Whole genome sequencing of the DNA code of three prenatal samples provided a detailed map of the locations of their chromosomal abnormalities in 14 days, scientists reported today at the American Society of Human Genetics (ASHG) 2012 meeting in San Francisco.

8 Nov 2012

Alnylam third quarter 2012 revenues decrease to $16.8 million

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, today reported its consolidated financial results for the third quarter 2012, and company highlights.

6 Nov 2012

Dysregulation of CISTR-ACT causes brachydactyly type E

The patients have single short fingers (metacarpals) and toes (metatarsals) and can be restricted in growth due to a shortened skeleton. This hereditary disease is called brachydactyly type E (Greek for short fingers).

6 Nov 2012

Genetic polymorphisms linked with community-acquired pneumonia

Seven genetic polymorphisms have been shown to be associated with community-acquired pneumonia, research shows.

5 Nov 2012

Scientists sequence and analyze human genomes to discover many variants

Thanks to powerful computational tools developed at Simon Fraser University, more than 100 scientists from around the world have genetically mapped the largest and most varied number of human genomes to date.

3 Nov 2012

Phase II study to evaluate Medivir/Janssen's simeprevir and Vertex against HCV

Medivir AB, announced today plans for a phase II proof-of-concept study of an all-oral regimen for the treatment of hepatitis C containing of Medivir/Janssen's protease inhibitor simeprevir and Vertex's nucleotide analogue hepatitis C virus (HCV) polymerase inhibitor VX-135.

3 Nov 2012

Janssen, Vertex to evaluate TMC435 and VX-135 in Phase 2 HCV study

Janssen Pharmaceuticals, Inc. today announced that it has entered into a non-exclusive collaboration with Vertex Pharmaceuticals Incorporated to evaluate in a Phase 2 study the safety and efficacy of an all-oral regimen for the treatment of hepatitis C (HCV).

2 Nov 2012

BioCryst announces withdrawal of BCX5191 IND following discussion with FDA

BioCryst Pharmaceuticals, Inc. announced the withdrawal of its Investigational New Drug application (IND) for the antiviral nucleoside, BCX5191, following a discussion with the U.S. Food and Drug Administration (FDA).

31 Oct 2012

C allele of rs1329650 may increase risk of both ADHD and smoking

A variation of a particular gene may link the behaviours typical of childhood attention hyperactivity disorder, or ADHD for short, and those associated with smoking, suggests research published online in the Archives of Disease in Childhood.

30 Oct 2012

Study identifies genetic variations as predictors of prostate cancer-related fatigue

Researchers at Moffitt Cancer Center and the University of South Florida have found that men with prostate cancer who receive androgen deprivation therapy may predictably suffer from fatigue if they have single nucleotide polymorphisms in three pro-inflammatory genes. The discovery highlights the importance of personalized medicine, in which therapies are tailored to a patient's genetic profile.

29 Oct 2012

Paper details new target for anti-cancer drug development

In a new paper released today in Nature, BioFrontiers Institute scientists at the University of Colorado Boulder, Tom Cech and Leslie Leinwand, detailed a new target for anti-cancer drug development that is sitting at the ends of our DNA.

25 Oct 2012

Study to examine possible link between mitochondrial DNA and ovarian cancer

Ovarian cancer is a deadly disease. With no overt symptoms and no screening tests to catch it early, ovarian cancer is often detected at stage 3 or later. By then, it can be very aggressive and may have spread beyond the ovaries into other organs. Many women eventually succumb to it; the five-year survival rate for a stage 3 ovarian cancer diagnosis is only 34 percent.

24 Oct 2012

Donor gene clue to kidney transplant rejection

Genetic study results show that long-term kidney transplant rejection risk may be increased if the organ donor has a variant form of the multidrug resistance 1 gene.

23 Oct 2012

Hereditary genes responsible for pain severity after motor vehicle collisions

Two studies presented at the ANESTHESIOLOGY 2012 annual meeting found that hereditary genes were responsible for the amount and type of pain experienced after a motor vehicle collision (MVC).

17 Oct 2012

Accumulation of small genetic variations could increase risk of ASD

An increased risk of autism spectrum disorders (ASD) could result from an accumulation of many small, common genetic variations rather than large-effect, rare changes in the genetic code, according to a multicenter team led by researchers at the University of Pittsburgh School of Medicine.

16 Oct 2012

Common genetic polymorphisms can increase risk of autism spectrum disorders

The causes of autism and autism spectrum disorder (ASD) are complex, and contain elements of both nature (genes) and the environment. New research published in BioMed Central's open access journal Molecular Autism shows that common genetic polymorphisms (genetic variation) can add up to an increased risk of ASD.

15 Oct 2012