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Dantrolene may help combat Duchenne muscular dystrophy in boys

Drugs are currently being tested that show promise in treating patients with Duchenne muscular dystrophy (DMD), an inherited disease that affects about one in 3,600 boys and results in muscle degeneration and, eventually, death.

13 Dec 2012

‘Weekend pill’ employed for muscular dystrophy

A drug used to treat erectile dysfunction may prevent functional muscle ischemia in patients with Becker muscular dystrophy, a small randomized trial shows.

6 Dec 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

CSHL scientists discover new way to specifically target and kill cancer cells

Cancer cells grow fast. That's an essential characteristic of what makes them cancer cells. They've crashed through all the cell-cycle checkpoints and are continuously growing and dividing, far outstripping our normal cells. To do this they need to speed up their metabolism.

1 Nov 2012

Researchers use baker's yeast to identify new therapies for Lou Gehrig's disease

Amyotrophic lateral sclerosis, also called Lou Gehrig's disease, is a devastatingly cruel neurodegenerative disorder that robs sufferers of the ability to move, speak and, finally, breathe.

29 Oct 2012

UNMCC researcher to investigate possible mechanism for cancer tumor development

Most of us think of DNA mutations as the culprits that cause cancer. Scott Ness, PhD, University of New Mexico Professor of Molecular Genetics and Microbiology and Associate Director at the UNM Cancer Center, thinks there may be another, more elusive culprit. If Dr. Ness is right his research, funded as part of the National Cancer Institute's Provocative Questions Project, might open a whole new arena in which to target anticancer drugs.

28 Sep 2012

LIN28 protein can bind directly to thousands of messenger RNAs

A study led by researchers at the UC San Diego Stem Cell Research program and funded by the California Institute for Regenerative Medicine (CIRM) looks at an important RNA binding protein called LIN28, which is implicated in pluripotency and reprogramming as well as in cancer and other diseases.

6 Sep 2012

New sequencing approach can provide more effective method of BRCA1/2 mutational analysis

Individuals with mutations in BRCA1 and BRCA2 genes have a significantly higher risk of developing breast and ovarian cancers. Families at risk have been seeking genetic testing and counseling based on their mutation carrier status, but the standard method of direct sequencing is labor-intensive, costly, and it only targets a part of the BRCA1 and BRCA2 genes.

6 Aug 2012

Researchers identify six genes with driving mutations in melanoma

It's been a burning question in melanoma research: Tumor cells are full of ultraviolet (UV)-induced genetic damage caused by sunlight exposure, but which mutations drive this cancer? None have been conclusively tied to melanoma. The sheer abundance of these passenger mutations has obscured the search for genetic driver mutations that actually matter in melanoma development and progression.

20 Jul 2012

Inexpensive exome sequencing can quickly detect heterogeneous diseases

The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands will tell the annual conference of the European Society of Human Genetics.

25 Jun 2012

De novo somatic gene mutations likely to cause hemimegalencephaly

Hemimegalencephaly is a rare but dramatic condition in which the brain grows asymmetrically, with one hemisphere becoming massively enlarged. Though frequently diagnosed in children with severe epilepsy, the cause of hemimegalencephaly is unknown and current treatment is radical: surgical removal of some or all of the diseased half of the brain.

25 Jun 2012

Exome sequencing may also improve diagnoses and guide individual patient care

In the June 13 issue of Science Translational Medicine, an international team led by researchers from the University of California, San Diego School of Medicine reports that the new technology of exome sequencing is not only a promising method for identifying disease-causing genes, but may also improve diagnoses and guide individual patient care.

14 Jun 2012

RNA binding motif protein 20 regulates titin splicing

Cardiomyopathy comprises a deterioration of the heart muscle that affects the organ's ability to efficiently pump blood through the body. Previously researchers have tied forms of the disease to the alternative splicing of titin, a giant protein that determines the structure and biomechanical properties of the heart, but the molecular mechanism remained unknown.

2 Apr 2012

Greenwood launches Syndromic Autism 62-Gene Panel

RainDance Technologies, Inc., the Digital Biology Company, today announced that Greenwood Genetic Center has commercially launched its Syndromic Autism 62-Gene Panel which was built for use on RainDance's picodroplet-based targeted sequencing platform.

29 Mar 2012

Study reveals central role played by DBIRD protein complex in gene transcription

In a study published this week in the journal Nature, researchers at the University of Liège's GIGA Unit, together with English and German teams, reveal the central role played by a protein complex, unknown up to now, in gene transcription.

26 Mar 2012

Study describes how multiple RNA binding proteins cooperatively control genetic splicing code

Understanding how RNA binding proteins control the genetic splicing code is fundamental to human biology and disease - much like editing film can change a movie scene. Abnormal variations in splicing are often implicated in cancer and genetic neurodegenerative disorders.

17 Feb 2012

DNA sequencing identifies new altered genes that drive CLL

The most comprehensive search to date of DNA abnormalities in chronic lymphocytic leukemia (CLL) has unearthed several new altered genes that drive this common blood cancer, a finding that could potentially help doctors predict whether an individual patient's disease will progress rapidly or remain indolent for years, say scientists from Dana-Farber Cancer Institute and the Broad Institute.

13 Dec 2011

Cancer cells maintain rapid proliferation due to PK-M2 enzyme

Cancer cells maintain their life-style of extremely rapid growth and proliferation thanks to an enzyme called PK-M2 (pyruvate kinase M2) that alters the cells' ability to metabolize glucose - a phenomenon known as the Warburg effect.

3 Nov 2011

New sequencing method can identify genetic variants linked to ASD

Geneticists at Emory University School of Medicine have demonstrated a method that enables the routine amplification of all the genes on the X chromosome. The technology allows the rapid and highly accurate sequencing and identification of novel genetic variants affecting X chromosome genes.

19 Oct 2011

Roche NimbleGen launches pre-capture multiplex target enrichment protocol

With the decreasing cost and increasing throughput of sequencing, researchers require a high-performance, cost-effective sample preparation pipeline for targeted sequencing. To enable researchers to more readily match targeted sequencing sample preparation throughput to the ever increasing throughput of next-generation sequencing, Roche NimbleGen announces the imminent launch of a pre-capture multiplex target enrichment protocol.

11 Oct 2011