Rare Disease News and Research

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Discovery shows how cells decide what to recycle, unlocking debilitating disease's secret

Our bodies recycle proteins, the fundamental building blocks that enable cell growth and development. Proteins are made up of a chain of amino acids, and scientists have known since the 1980s that first one in the chain determines the lifetime of a protein. McGill researchers have finally discovered how the cell identifies this first amino acid - and caught it on camera.

13 Sep 2010

Shire announces expansion of Human Genetic Therapies pipeline

Shire plc, the global specialty biopharmaceutical company, today announced the expansion of its Human Genetic Therapies pipeline through the exclusive license, in markets outside of North America, for the activin receptor type IIB class of molecules being developed by Acceleron Pharma Inc., a private biotechnology company based in Cambridge, Massachusetts.

10 Sep 2010

Acceleron Pharma and Shire announce joint development of ACE-031 for DMD

Acceleron Pharma, Inc., a biopharmaceutical company developing novel therapeutics that modulate the growth of cells and tissues including muscle, bone, fat, red blood cells and the vasculature, and Shire plc, the global specialty biopharmaceutical company, today announced a joint development and commercialization agreement for ACE-031 and other novel molecules targeting the activin receptor type IIB (ActRIIB) pathway. This pathway plays critical roles in regulating the growth of skeletal muscle.

9 Sep 2010

IMF and CHPF join to promote awareness of myeloma in China

The International Myeloma Foundation (IMF), the oldest and largest foundation dedicated to improving the life and care of myeloma patients, today announced plans to sign a cooperative agreement with the Chinese Health Promotion Foundation (CHPF), an agency that operates under the Chinese Ministry of Health, to promote awareness of myeloma in China and to encourage measures to prevent and combat the disease.

9 Sep 2010

Scientists gather to present research findings at ASHG 2010 Meeting

The world's top scientists and clinicians in the human genetics field will gather in Washington, D.C., to present their latest research findings at the 60th Annual Meeting of the American Society of Human Genetics, from Tuesday, November 2, through Saturday, November 6, 2010, at the Walter E. Washington Convention Center in D.C.

8 Sep 2010

Californians recognized for contributing to plasma protein lifesaving therapies

This month, Californians are recognized for their outstanding contributions to lifesaving therapies that treat critically ill individuals and for their donations of the blood component, plasma, that makes the creation of these unique therapies possible.

3 Sep 2010

Pfizer enters agreement to acquire FoldRx Pharmaceuticals

Pfizer Inc. and FoldRx Pharmaceuticals, Inc., a privately held drug discovery and clinical development company, today announced that they have entered into an agreement under which Pfizer will acquire FoldRx.

2 Sep 2010

Stromedix's STX-100 receives orphan drug status from FDA for treatment of IPF

Stromedix, Inc., a biotechnology company focused on innovative therapies for fibrosis and fibrotic organ failure, announced today that its lead clinical candidate STX-100 has been granted orphan drug status by the U.S. Food and Drug Administration for the treatment of idiopathic pulmonary fibrosis, a debilitating and almost uniformly fatal disease in which patients experience progressive difficulty breathing due to fibrosis (scarring) of the lung.

31 Aug 2010

New high throughput sequencing technology to identify genetic defects in rare diseases

The majority of rare diseases are hereditary. But despite significant progress in genome research, in most cases their exact cause remains unclear. The discovery of the underlying genetic defect is, however, a prerequisite for their definitive diagnosis and the development of innovative approaches to their treatment. Scientists at the Max Planck Institute for Molecular Genetics and the Institute of Medical Genetics at the Charit- Universit-tsmedizin - Berlin have succeeded in using a new process with which all of the genes in the human genome can be analysed simultaneously.

30 Aug 2010

National Fibromyalgia Association, RemedyMD partner to build fibromyalgia research registry

The National Fibromyalgia Association has partnered with RemedyMD® to provide a national database that will aggregate data from a wide variety of sources to provide a complete disease registry for fibromyalgia research. It offers new hope to sufferers since this will represent the first time that researchers have the opportunity to look at all data relevant to fibromyalgia in order to identify patterns which lead to more effective diagnosis and treatment.

24 Aug 2010

FDA grants orphan drug designation to NephRx's lead product NX001

NephRx Corporation today announced that the U.S. Food and Drug Administration has granted orphan drug designation to its lead product NX001 for the prevention of delayed graft function in renal transplant recipients. NX001 is a kidney growth factor peptide that has demonstrated good safety and promising efficacy in two animal models of acute renal failure.

18 Aug 2010

AMT's MAA for LPLD gene therapy product Glybera on schedule

Amsterdam Molecular Therapeutics, a leader in the field of human gene therapy, today announced that the Marketing Authorisation Application (MAA) for Glybera(R) remains on schedule following meetings with the European Medicine Agency (EMA) concerning the Day 120 List of Questions. The company is confident that Glybera(R), a gene therapy product for lipoprotein lipase deficiency (LPLD), remains on track for a regulatory decision by mid-2011.

18 Aug 2010

Researchers discover genetic alterations responsible for Kabuki syndrome

Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.

16 Aug 2010

FDA grants BioMimetic Therapeutics orphan drug designation for rhPDGF-BB in treatment of OCD

BioMimetic Therapeutics, Inc. today announced that it has received orphan drug designation from the Food and Drug Administration for its protein therapeutic, recombinant human platelet derived growth factor, to be used in conjunction with autograft and/or commercially available osteochondral allograft for the treatment of osteochondritis dissecans of the knee, elbow or ankle.

12 Aug 2010

U.S. Senators introduce legislation to encourage R&D aimed at neglected pediatric diseases

"New bipartisan legislation was introduced in the U.S. Senate last week which seeks to encourage innovative [research and development] R&D by drugmakers aimed at treating rare and neglected pediatric diseases," PharmaTimes reports.

11 Aug 2010

FDA grants Orphan Drug Designation to YM BioSciences' JAK1/2 inhibitor

YM BioSciences Inc., announced that the Office of Orphan Products Development of the U.S. Food and Drug Administration has granted Orphan Drug Designation to the Company's highly-selective JAK1/2 inhibitor, CYT387, for the treatment of myelofibrosis, a chronic debilitating unmet medical need, in which a patient's bone marrow is replaced by scar tissue, and for which treatment options are limited or unsatisfactory.

10 Aug 2010

ASEBIO to host Biospain 2010

The Spanish Bioindustry Association (ASEBIO), in collaboration with the Navarre Society of Development (SODENA), and the government of Navarre, will host BioSpain 2010 the biennial international gathering of experts in the biotechnology sector, in Pamplona from September 29th to October 1st. BioSpain 2010 is honoured to welcome three lecturers of international prestige: Mr. Carlos Cordon-Cardo, Vice-Chair of Pathology & Professor, Columbia University; Mr. Larry Fritz, President & CEO, Covella Pharmaceuticals Inc. and Life Science Venture Partner, Westfield Capital Management Company LP; and Mr. Conny Bogentoft, CEO Karolinska Development AB.

8 Aug 2010

U.S. Senate passes I-ACT to enable patients with rare disease to participate in clinical trials

The U.S. Senate last night passed the "Improving Access to Clinical Trials Act" (I-ACT), a bipartisan piece of legislation championed by the Cystic Fibrosis Foundation, its advocates and 120 other health advocacy organizations.The legislation enables patients with rare diseases to participate in clinical trials without losing eligibility for public healthcare benefits.

7 Aug 2010

Kids v Cancer applauds Senators for Creating Hope Act of 2010

Kids v Cancer applauds Senators Sam Brownback (R-KS), Sherrod Brown (D-OH), and Al Franken (D-MN) for their dedication to curing childhood diseases and supporting the bipartisan "Creating Hope Act of 2010."

7 Aug 2010

PFF announces introduction of Pulmonary Fibrosis Research Enhancement Act in US Senate

The Pulmonary Fibrosis Foundation (PFF) today announced that the Pulmonary Fibrosis Research Enhancement Act (PFREA) was introduced in the United States Senate. The PFREA was introduced by Senators Patty Murray (D-WA) and Mike Crapo (R-ID), and the PFF has offered its unconditional endorsement to pass this important legislation on behalf of the pulmonary fibrosis community.

5 Aug 2010