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CEGIR launches patient contact registry for people with eosinophilic gastrointestinal diseases

CEGIR launches patient contact registry for people with eosinophilic gastrointestinal diseases

To coincide with Rare Disease Day 2015, the Consortium of Eosinophilic Gastrointestinal Disease Researchers today launched a patient contact registry for individuals with eosinophilic gastrointestinal diseases (EGID), a group of rare diseases. [More]
Novel financing technique may unlock funding for developing 'orphan' drugs to treat rare diseases

Novel financing technique may unlock funding for developing 'orphan' drugs to treat rare diseases

A paper published today, "Financing translation: Analysis of the NCATS rare-diseases portfolio" in Science Translational Medicine, demonstrates the potential of a new financing technique to reduce the risk associated with investing in the treatment of new diseases and potentially unlock new levels of funding for developing so-called "orphan" drugs. [More]
CSL Behring donates protein therapies to World Federation of Hemophilia

CSL Behring donates protein therapies to World Federation of Hemophilia

In recognition of Rare Disease Day and as part of its ongoing commitment to the global bleeding disorders community, CSL Behring announced today that it is donating 2 million international units (IUs) of protein therapies to the World Federation of Hemophilia. [More]
Rare Disease Day 2015 raises awareness of challenges faced by rare cancer patients

Rare Disease Day 2015 raises awareness of challenges faced by rare cancer patients

Within the "umbrella" of rare diseases, rare cancer patients confront particular problems. Most rare diseases have an identified genetic origin. In contrast, rare cancers are mainly acquired diseases. [More]
Cipher acquires worldwide rights to three products from Astion

Cipher acquires worldwide rights to three products from Astion

Cipher Pharmaceuticals Inc. today announced it has strengthened its product pipeline by acquiring the worldwide rights to three products from Astion Pharma, a Denmark-based specialty pharmaceutical company. [More]
Tolero's alvocidib receives EMA orphan drug designation for treatment of AML patients

Tolero's alvocidib receives EMA orphan drug designation for treatment of AML patients

Tolero Pharmaceuticals, Inc., a clinical-stage company developing treatments for serious hematological diseases, today announced that the European Medicines Agency has granted orphan drug designation for alvocidib for the treatment of patients with acute myeloid leukemia (AML). [More]
Isis Pharmaceuticals announces positive results from Phase 1 study of ISIS-PKK Rx for HAE treatment

Isis Pharmaceuticals announces positive results from Phase 1 study of ISIS-PKK Rx for HAE treatment

Isis Pharmaceuticals, Inc. announced today positive results from a Phase 1 study with ISIS-PKKRx. In this study, healthy volunteers treated with ISIS-PKKRx achieved dose-dependent reductions of up to 95 percent in prekallikrein, or PKK. ISIS-PKKRx is a RNA-targeted antisense drug designed to inhibit the production of PKK for the prophylactic treatment of hereditary angioedema (HAE). [More]
Shire announces acquisition of Meritage Pharma

Shire announces acquisition of Meritage Pharma

Shire plc and Meritage Pharma, Inc. announced today that Shire has acquired Meritage, a privately-held company, for an upfront fee of $70 million and additional contingent payments based on the achievement of development and regulatory milestones. [More]
Shire announces completion of NPS Pharma acquisition

Shire announces completion of NPS Pharma acquisition

Shire plc announces the successful completion of the tender offer for all of the outstanding shares of NPS Pharmaceuticals, Inc. and the subsequent acquisition of NPS Pharma. [More]

EC grants orphan drug designation to aTyr Pharma's Resolaris for treatment of FSHD

aTyr Pharma, Inc., a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address rare diseases, announced today the European Commission (EC) has granted orphan drug designation to Resolaris for the treatment of facioscapulohumeral muscular dystrophy (FSHD). [More]
R. Bryan Miller Symposium to spotlight special focus on rare disease research

R. Bryan Miller Symposium to spotlight special focus on rare disease research

The University of California, Davis Department of Chemistry will spotlight a special focus on rare disease research with this year's 15th annual R. Bryan Miller Symposium. Experts in rare diseases will gather at the UC Davis Conference Center March 5 for a conference highlighting the opportunities and challenges in applying cutting edge technologies and "precision medicine" to better treat conditions that together affect millions of people, especially children. [More]
TAU researchers identify novel genetic mutation as source of specific rare disease

TAU researchers identify novel genetic mutation as source of specific rare disease

Rare diseases -- those that affect fewer than one in 200,000 people -- are often identified early in life. Some 30 percent of children afflicted by these "orphan diseases" do not live to see their fifth birthday. While the U.S. Orphan Drug Act of 1983 was written into law to promote research on the topic, the cost of identifying the source and progression of these diseases remains prohibitive for many families. [More]
Researchers study epidemiology of Ebola Virus Disease to prevent future disease outbreaks

Researchers study epidemiology of Ebola Virus Disease to prevent future disease outbreaks

Now, researchers from Arizona State University and Georgia State University are trying to better understand the epidemiology and control of Ebola Virus Disease in order to alleviate suffering and prevent future disease outbreaks from reaching the catastrophic proportions of the current crisis. [More]
Mesothelioma Victims Center implores US homeowners to understand the potential hazards of asbestos

Mesothelioma Victims Center implores US homeowners to understand the potential hazards of asbestos

The Mesothelioma Victims Center is urging all US homeowners to familiarize themselves with the dangers of exposure to asbestos in any home constructed with the material as there could be a remote possibility of developing a malignant form of cancer called mesothelioma. [More]
Education can help people better understand individuals with facial paralysis

Education can help people better understand individuals with facial paralysis

A little bit of sensitivity training can help people form better first impressions of those with facial paralysis, reducing prejudices against people with a visible but often unrecognizable disability, new research from Oregon State University indicates. [More]
Researchers reveal key factor in understanding elevated cancer risk linked to gene therapy

Researchers reveal key factor in understanding elevated cancer risk linked to gene therapy

National Institutes of Health researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy. They conducted research on mice with a rare disease similar to one in humans, hoping their findings may eventually help improve gene therapy for humans. Researchers at the National Human Genome Research Institute, part of NIH, published their research in the Jan. 20, 2015, online issue of the Journal of Clinical Investigation. [More]
Researchers explore how M6P deficiency affects different kinds of immune cells

Researchers explore how M6P deficiency affects different kinds of immune cells

A group of white blood cells known as B cells, which play a key role in the human immune response, need a protein-targeting signal called mannose 6-phosphate (M6P) in order to proliferate, differentiate, and present immune cell-activating antigens, according to a study in The Journal of Cell Biology. [More]
Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

Researchers find genetic mutation that causes glycogen storage disease type IIIa in Inuit

A team of Canadian and Japanese researchers has identified the genetic mutation responsible for glycogen storage disease type IIIa in Inuit in northern Quebec, Canada, in a study published in CMAJ (Canadian Medical Association Journal). [More]
Neurological testing accessibility and affordability: an interview with Dr Joseph Higgins

Neurological testing accessibility and affordability: an interview with Dr Joseph Higgins

Neurological disorders with genetic causes can be very difficult to diagnose without reliable, clinically relevant tests tailored to specific phenotypes. [More]
Newron, Zambon announce re-submission of safinamide NDA to FDA

Newron, Zambon announce re-submission of safinamide NDA to FDA

Newron Pharmaceuticals S.p.A., a research and development company focused on novel CNS and pain therapies, and its commercial and development partner Zambon S.p.A., an international pharmaceutical company, announced today that the NDA for safinamide has been re-submitted to the US FDA. [More]