Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

SLU researchers to test new screening method for MPS disorders among infants

Researchers at Saint Louis University have received a five-year, $2.5 million National Institutes of Health grant to test a new method of screening newborns for a group of rare, but serious genetic disorders that affect approximately 200 babies born in the U.S., each year.

11 Jan 2013

Simple and inexpensive method to cut DNA could transform genetic medicine

A simple, precise and inexpensive method for cutting DNA to insert genes into human cells could transform genetic medicine, making routine what now are expensive, complicated and rare procedures for replacing defective genes in order to fix genetic disease or even cure AIDS.

10 Jan 2013

Pfizer, Repligen sign licensing deal to advance spinal muscular atrophy program

Repligen Corporation announced today that it has entered into an exclusive worldwide licensing agreement with Pfizer Inc. to advance Repligen's spinal muscular atrophy (SMA) program, originally in-licensed from Families of SMA (FSMA).

3 Jan 2013

Parkinson’s: an interview with Steve Ford, CEO of Parkinson’s UK

Parkinson’s disease is a neurological condition that is caused when brain cells, that produce the chemical messenger dopamine, start to die.

24 Dec 2012

The association alfa-enolase/plasmin is a new selective target for treating muscular pathologies

Researchers at the Bellvitge Biomedical Research Institute (IDIBELL) have described a new selective target in muscle regeneration. This is the association of alpha-enolase protein and plasmin.

19 Dec 2012

Dantrolene shows promise for treating DMD

A muscle relaxant called dantrolene used for treating malignant hyperthermia boosts the activity of therapies currently being developed to treat the genetic disorder Duchenne muscular dystrophy (DMD), show study findings.

17 Dec 2012

Pfizer's PD0325901 experimental drug blocks untreatable NF1 tumors

Researchers conducting a preclinical study in mice successfully used targeted molecular therapy to block mostly untreatable nerve tumors that develop in people with the genetic disorder Neurofibromatosis 1 (NF1).

11 Dec 2012

Acetylon announces results from selective HDAC 1/2 inhibitor preclinical study on SCD and bT

Acetylon Pharmaceuticals Inc., a leader in targeted epigenetic drug discovery and development for enhanced therapeutic outcomes, today announced results from a preclinical study of a selective histone deacetylase (HDAC) 1/2 inhibitor for the treatment of sickle cell disease (SCD) and beta-thalassemia (bT) at the 54th Annual Meeting of the American Society of Hematology (ASH), taking place in Atlanta, Georgia.

11 Dec 2012

Scientists evaluate two different strategies to treat Usher syndrome

After years of basic research, scientists at Johannes Gutenberg University Mainz (JGU) are increasingly able to understand the mechanisms underlying the human Usher syndrome and are coming ever closer to finding a successful treatment approach. The scientists in the Usher research group of Professor Dr. Uwe Wolfrum are evaluating two different strategies. These involve either the repair of mutated genes or the deactivation of the genetic defects using agents.

6 Dec 2012

Moderna Therapeutics closes $40M in financing

Moderna Therapeutics announced today that it has closed more than $40 million in financing to date, led by Flagship Ventures and private investors, which will be used to advance multiple programs toward clinical stage development.

6 Dec 2012

New prenatal genetic test results in more clinically relevant information

A large, multi-center clinical trial led by researchers from Columbia University Medical Center (CUMC) shows that a new genetic test resulted in significantly more clinically relevant information than the current standard method of prenatal testing.

6 Dec 2012

New laser surgical technique appears to be safe and effective in treating epilepsy

A developing new laser surgical technique for epilepsy appears to be safe and effective and reduces hospital stays to one or two days, according to two research reports presented today during the American Epilepsy Society 66th Annual Meting at the San Diego Convention Center.

3 Dec 2012

Researchers uncover molecular structure of master regulator central to melanoma

With the X-ray vision of DESY's light source DORIS, a research team from Hamburg and Iceland has uncovered the molecular structure of a master regulator central to the most deadly form of skin cancer, melanoma.

1 Dec 2012

New genetic study defines biology behind brain developmental disorder in children

This study describes how a combination of sequencing and mouse models were used to identify the gene responsible for a brain developmental disorder seen in four patients.

1 Dec 2012

UBE3B gene linked to brain development disorder in children

Researchers have defined the gene responsible for a rare developmental disorder in children. The team showed that rare variation in a gene involved in brain development causes the disorder. This is the first time that this gene, UBE3B, has been linked to a disease.

30 Nov 2012

Alberta Children's Hospital performs first liver cell transplant in Calgary, Canada

A three-month-old Winnipeg girl has become the first patient in Canada to receive an experimental and potentially life-saving form of therapy to improve the function of her liver.

29 Nov 2012

Injecting Wnt7a protein could prevent Duchenne muscular dystrophy

Scientists have discovered that injecting a novel human protein into muscle affected by Duchenne muscular dystrophy significantly increases its size and strength, findings that could lead to a therapy akin to the use of insulin by diabetics.

28 Nov 2012

Neurofibromatosis-1 may increase risk of breast cancer in women

New Johns Hopkins research showing a more than four-fold increase in the incidence of breast cancer in women with neurofibromatosis-1 (NF1) adds to growing evidence that women with this rare genetic disorder may benefit from early breast cancer screening with mammograms beginning at age 40, and manual breast exams as early as adolescence.

27 Nov 2012

Liver disease therapies: an interview with Eric Halioua, CEO of Promethera Biosciences

Liver disease is a very broad family of diseases. There are two main categories of liver disease:

27 Nov 2012

New way to protect neurons that express mutant huntingtin proteins

By using a model, researchers at the University of Montreal have identified and "switched off" a chemical chain that causes neurodegenerative diseases such as Huntington's disease, amyotrophic lateral sclerosis and dementia. The findings could one day be of particular therapeutic benefit to Huntington's disease patients. "We've identified a new way to protect neurons that express mutant huntingtin proteins," explained Dr. Alex Parker of the University of Montreal's Department of Pathology and Cell Biology and its affiliated CRCHUM Research Centre.

27 Nov 2012