Genetic Disorder News and Research

RSS

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

Study confirms defect in sweat gland function as disease biomarker for XLHED

Edimer Pharmaceuticals, a biotechnology company focused on developing an innovative therapy for the rare genetic disorder, X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), today announced key findings of a study exploring novel approaches to the assessment of sweat function in males with XLHED. Affected individuals lack a normal sweat response, placing them at life-long risk for clinically-significant hyperthermia.

9 Nov 2010

Sudden epilepsy death explained

Sudden unexpected death in epilepsy (SUDEP) is a condition that kills about 150 Australians a year. Now researchers have discovered the reasons behind such deaths. The study was conducted by scientists at the Centenary Institute at the University of Sydney who looked at blood samples taken from epilepsy suffers who had died suddenly and found that there were genetic faults in the heart and brain.

7 Nov 2010

Afinitor tablets decrease size of SEGA associated with tuberous sclerosis

The New England Journal of Medicine (NEJM) today published a study that found patients taking Afinitor (everolimus) tablets experienced a decrease in the size of their subependymal giant cell astrocytoma (SEGA), a benign brain tumor associated with tuberous sclerosis (TS).

4 Nov 2010

New simple blood test may help diagnose Niemann-Pick type C disease

A fatal genetic disorder that frequently takes years to diagnose may soon be detectable with a simple blood test, researchers at Washington University School of Medicine in St. Louis and the National Institutes of Health (NIH) report this week in Simple blood test may diagnose deadly Niemann-Pick type C disease.

4 Nov 2010

Safeguard Scientifics third quarter aggregate revenue of partner companies increases 73% to $109.6 million

Safeguard Scientifics, Inc., a holding company that provides growth capital for entrepreneurial and innovative life sciences and technology companies, today announced that aggregate revenue of its partner companies for the three months ended September 30, 2010 was $109.6 million, up 73% from $63.4 million for the same partner companies in the same period of 2009.

3 Nov 2010

Pain Therapeutics awarded $2,000,000 U.S. government research grant

Pain Therapeutics, Inc. announced today that it has been awarded over $2,000,000 in research grants by the U.S. government. These grants are planned to support the Company's on-going biomedical research for nervous system disorders and oncology. Pain Therapeutics expects to receive funding from these research grants now through the end of 2011.

2 Nov 2010

GSN closes $12M Series C financing

Gene Security Network, Inc. today announced the closing of its $12M Series C financing. The financing round was led by Sequoia Capital and included Claremont Creek Ventures, Founders Fund, and Lightspeed Venture Partners.

2 Nov 2010

FDA approves cancer drug Afinitor for treatment of rare genetic disorder

The U.S. Food and Drug Administration approved the cancer drug Afinitor (everolimus) on Friday to treat patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis (TS), a rare genetic disorder. This approval was for treatments of SEGA that can not be treated with surgery.

1 Nov 2010

Life Technologies announces launch of new sequencer to deliver genomic data

Life Technologies Corporation a provider of innovative life science solutions, today announced the launch of the 5500xl SOLiD Sequencer, a new instrument designed to deliver the industry's fastest and most accurate genomic data for cancer biology and genetic disease research.

1 Nov 2010

FDA approves Afinitor drug for tuberous sclerosis complex

The Tuberous Sclerosis Alliance (TS Alliance) today announced the first drug approved for a tuberous sclerosis complex (TSC) indication by the Federal Drug Administration (FDA). This drug, manufactured by Novartis Oncology, is called Afinitor and will be used to treat subependymal giant cell astrocytomas (SEGAs) in individuals with TSC.

1 Nov 2010

GSK and Amicus announce Amigal development and commercialization agreement

GlaxoSmithKline PLC (GSK) and Amicus Therapeutics today announced a definitive agreement to develop and commercialize Amigal™ (migalastat HCl), currently in Phase 3 for the treatment of Fabry disease, a rare inherited disorder. Under the terms of the agreement, GSK will receive an exclusive worldwide license to develop, manufacture and commercialize migalastat HCl.

29 Oct 2010

Pain Therapeutics third quarter net loss decreases from $1.3 million to $1.0 million

Pain Therapeutics, Inc. a biopharmaceutical company, today reported financial results for its third quarter of fiscal year 2010.

29 Oct 2010

Eye-gaze technology opens world of communication for Rett Syndrome children

Special eye-gaze technology now being used in the Department of Neurology at The Children's Hospital at Montefiore (CHAM) is revealing the hidden, inner world of children who have Rett Syndrome, a rare and severe autism spectrum disorder that primarily affects little girls. It is a neurological disease in which mobility and autonomic functions are severely impaired, seizures and orthopedic problems are common, and the children lose functional hand use and the ability to speak.

26 Oct 2010

Enrollment complete in ViroPharma's Phase 2 study evaluating subcutaneous delivery of Cinryze

ViroPharma Incorporated today announced that it has completed enrollment in its Phase 2 study evaluating subcutaneous delivery of Cinryze™ (C1esterase inhibitor [human]). This multi-center, open-label, multi-dose Phase 2 study is designed to evaluate the safety, pharmacokinetics and pharmacodynamics of subcutaneous versus intravenous administration of Cinryze in adolescent and adult subjects with hereditary angioedema (HAE).

25 Oct 2010

FDA issues complete response letter for ViroPharma's Cinryze

ViroPharma Incorporated today announced the U.S. Food and Drug Administration (FDA) issued a complete response letter regarding Cinryze (C1 Esterase Inhibitor [Human]) industrial scale manufacturing expansion activities. The FDA has requested additional information related to observations from the pre-approval inspection and review of the technical processes.

25 Oct 2010

Researchers find gene mutation mechanism that cause mitochondrial diseases

Scientists have discovered a new cause of spastic ataxia, and believe this cause is also a trigger for other mitochondrial diseases neurological disorders that can lead to serious coordination, growth, visual, speech, and muscle defects.

22 Oct 2010

TOBI reduces mortality in patients with cystic fibrosis, Pa lung infection

A new analysis of data from more than 12,000 people with cystic fibrosis (CF) and Pseudomonas aeruginosa (Pa) lung infection in the Cystic Fibrosis Foundation's Patient Registry shows that use of TOBI (Tobramycin Inhalation Solution, USP) was associated with a 21% reduction in mortality in the following year.

22 Oct 2010

Genzyme third quarter revenue increases to $1.0 billion

Genzyme Corp. today reported third-quarter earnings growth driven by increased shipments of Cerezyme® (imiglucerase for injection). Patients in the United States began returning to normal dosing levels last month, and patients globally are expected to be able to do so this quarter. Earnings growth in the third quarter was also driven by strong revenue from Lumizyme™ (alglucosidase alfa) and cost reduction measures.

21 Oct 2010

RWV bioreactor creates 3-D cell culture models

The cells and tissues in our bodies grow, develop and interact in a highly complex, three-dimensional world. Likewise, the various microbial pathogens that invade our bodies and cause infectious disease interact with this complex 3-D tissue milieu. In the current issue of the journal Nature Reviews Microbiology, researcher Cheryl Nickerson and her team at the Biodesign Institute at Arizona State University highlight an innovative approach for studying cells in 3-D.

20 Oct 2010

New disease pathways involving more than one cell type lead to Type 1 Gaucher disease: Study

Researchers at Yale School of Medicine have found that new disease pathways involving more than one cell type leads to Type 1 Gaucher disease, a rare genetic disorder in which fatty substances called glycosphingolipids accumulate in cells, resulting in liver/spleen enlargement, osteoporosis, bone pain, and increased risk of cancer and Parkinson's disease.

20 Oct 2010