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Arno AR-42 for neurofibromatosis type 2 receives EMA orphan-drug designation

Arno Therapeutics, Inc. announced today that its investigational compound known as AR-42 has been granted orphan-drug designation by the European Medicines Agency's (EMA) Committee for Orphan Medicinal Products for the treatment of neurofibromatosis type 2 (NF2).

11 May 2012

Final results from Alnylam’s ALN-TTR01 Phase I trial on TTR-mediated amyloidosis

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today final results from its completed Phase I clinical trial with ALN-TTR01, an RNAi therapeutic targeting transthyretin (TTR) for the treatment of TTR-mediated amyloidosis.

11 May 2012

Administering vitamin K2 could possibly help patients with Parkinson's

Neuroscientist Patrik Verstreken, associated with VIB and KU Leuven, succeeded in undoing the effect of one of the genetic defects that leads to Parkinson's using vitamin K2. His discovery gives hope to Parkinson's patients.

11 May 2012

DYNC1H1 genetic mutation contributes to SMA-LED

Scientists have confirmed that mutations of a gene are responsible for some cases of a rare, inherited disease that causes progressive muscle degeneration and weakness: spinal muscular atrophy with lower extremity predominance, also known as SMA-LED.

11 May 2012

MAGI genes play a role in psychiatric disease

These findings are not about the classic story of gift-giving, although the MAGI genes (officially named membrane associated guanylate kinase, WW and PDZ domain containing proteins) do influence brain function in important ways.

11 May 2012

Study: C5ORF42 gene contributes to Joubert Syndrome

History, science and discovery come together to help family members affected by this syndrome make informed family planning choices. C5ORF42 was identified as the gene that causes Joubert Syndrome in a number of families in the Lower St. Lawrence region of Quebec where the causal gene had remained unknown since the initial description of the syndrome in 1969. This is what a study in the April issue of The American Journal of Human Genetics reveals.

11 May 2012

Fast track approval process for “breakthrough” drugs proposed in the U.S.

Some experimental drugs that show a big effect early in development for treating serious or life-threatening diseases could soon get a faster and cheaper path to U.S. approval, under a proposal likely to become law this year.

10 May 2012

Scientists pinpoint mechanism essential for memory formation

Now, in a study that appears in the May 10, 2012 issue of the journal Neuron, scientists from the Florida campus of The Scripps Research Institute have pinpointed a mechanism that is essential for forming memories in the first place and, as it turns out, is equally essential for eliminating them after memories have formed.

10 May 2012

Human Gene Therapy highlights new advances in human retinal disease

Gene therapy strategies to prevent and treat inherited diseases of the retina that can cause blindness have progressed rapidly. Positive results in animal models of human retinal disease continue to emerge, as reported in several articles published in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers.

9 May 2012

Study: Y and W chromosomes are very important in fertility

The study, published yesterday in the journal Proceedings of the National Academy of Sciences (PNAS), looked at how genes on sex-linked chromosomes are passed down generations and linked to fertility, using the specific example of the W chromosome in female chickens.

9 May 2012

Basser Research Center to focus on treatment and prevention of inherited cancers

A $25 million gift to the University of Pennsylvania from alumni Mindy and Jon Gray will establish a center focused on the treatment and prevention of cancers associated with hereditary BRCA mutations.

9 May 2012

Chemically altered proteins may be key to understanding memories

Having a fat head may not be a bad thing, according to new findings at The Johns Hopkins University. As reported in the February 9 issue of Neuron, researchers have made a significant discovery as to how adding fat molecules to proteins can influence the brain circuitry controlling cognitive function, including learning and memory.

8 May 2012

Research grants on facioscapulohumeral dystrophy prove useful as genetic basis is found

Businessman Bill Moss’s determination to fight his untreatable muscle-wasting disease may have paid off. Four years ago, Mr Moss, a former Macquarie Bank Executive Director, established a charitable research foundation, FSHD Global, which partly funded the Italian researchers who made the breakthrough.

8 May 2012

Researchers discover potential way to develop universal flu vaccines

University of British Columbia researchers have found a potential way to develop universal flu vaccines and eliminate the need for seasonal flu vaccinations.

8 May 2012

Scientific American examines worldwide spread of drug-resistant gonorrhea

Scientific American examines how strains of cephalosporin-resistant gonorrhea have "been emerging in Japan, and moving east and west from there, for at least a decade." The magazine writes, "Rapid international travel allowed the resistance mutation to hopscotch the globe," noting antibiotic-resistant strains that have been identified in Sweden, England, Norway, the Philippines, Spain, and France.

7 May 2012

Vertex reports interim data from VX-809 and KALYDECO combination Phase 2 study for cystic fibrosis

Vertex Pharmaceuticals Incorporated announced today an interim analysis of data from an ongoing Phase 2 study of VX-809 and KALYDECO (ivacaftor) that showed significant improvements in lung function (FEV1) among adults with cystic fibrosis (CF) who have two copies.

7 May 2012

Human stem cells effective in treating muscular dystrophy

Researchers from the University of Minnesota's Lillehei Heart Institute have effectively treated muscular dystrophy in mice using human stem cells derived from a new process that - for the first time - makes the production of human muscle cells from stem cells efficient and effective.

5 May 2012

New system measures strength of communication between muscle cells and motor neurons

In an effort to identify the underlying causes of neurological disorders that impair motor functions such as walking and breathing, UCLA researchers have developed a novel system to measure the communication between stem cell-derived motor neurons and muscle cells in a Petri dish.

5 May 2012

Research identifies molecular trigger of fibroid uterine tumors

Fibroid uterine tumors affect an estimated 15 million women in the United States, causing irregular bleeding, anemia, pain and infertility. Despite the high prevalence of the tumors, which occur in 60 percent of women by age 45, the molecular cause has been unknown.

5 May 2012

Malfunctioning single proteins cause disruptions in neuronal junctions leading to autism

Malfunctioning single proteins can cause disruptions in neuronal junctions leading to autistic forms of behavior. A current study, published in the scientific journal Nature, comes to this conclusion after examining genetically altered mice.

4 May 2012