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PNH patients applaud pan-Canadian approach to providing equitable access to Soliris

The Canadian Association of PNH Patients applauds governments across Canada for their landmark agreement to provide public access to Soliris (eculizumab), a life-saving treatment for the ultra-rare blood disease known as paroxysmal nocturnal haemoglobinuria.

25 Jul 2011

FDA approves U.S. launch of Wiskott-Aldrich gene therapy clinical trial

The U.S. Food & Drug Administration (FDA) approved the launching in the U.S. of a clinical trial for gene therapy for a rare immunodeficiency, Wiskott-Aldrich syndrome.

22 Jul 2011

Spanish patients with Fabry disease show classic observable traits different from rest of Europe

Spanish patients with Fabry disease, a rare hereditary condition where abnormal fatty deposits collect in blood vessels and organs throughout the body, appear to react differently to those in other European countries, according to a study in the August issue of IJCP, the International Journal of Clinical Practice.

20 Jul 2011

FDA warns consumers not to drink raw milk from Tucker Adkins Dairy

The FDA is working with officials in North Carolina and South Carolina to investigate an outbreak of campylobacteriosis in three people who consumed raw milk from Tucker Adkins Dairy in York, S.C. The three confirmed cases and another five probable cases are from three different households and each case reports that prior to becoming ill they consumed raw milk that was obtained from Tucker Adkins Dairy on June 14, 2011.

18 Jul 2011

Cancer Cell publishes Epizyme and collaborators' breakthrough research on MLL

Epizyme, Inc., a company leading the discovery and development of personalized therapeutics for genetically-defined cancer and rare disease patients, and its collaborators announced the publication in Cancer Cell of breakthrough research in the treatment of MLL-rearranged leukemia (MLL), a genetically-defined subset of acute lymphoblastic leukemia and acute myelogenous leukemia.

12 Jul 2011

Study confirms link between delayed access to tertiary care for IPF, higher risk of death

Idiopathic pulmonary fibrosis (IPF)―scarring and thickening of the lungs from unknown causes―is the predominant condition leading to lung transplantation nationwide. Columbia University Medical Center researchers confirmed that delayed access to a tertiary care center for IPF is associated with a higher risk of death.

2 Jul 2011

STSI receives NIH grant to conduct heart-based research

Researchers looking to find a root cause for heart attacks and coronary artery disease will soon begin using a novel investigative approach that borders on science fiction as they work toward the holy grail of American medicine: preventing the nation's No. 1 killer.

2 Jul 2011

Oxytocin hormone holds promise for children with Prader-Willi syndrome

Prader-Willi syndrome is a rare genetic disorder which affects one child in 25,000. Children born with this syndrome have a range of complex neurological and developmental problems which continue into adult life. These can manifest as cognitive and behavioral difficulties, weight gain, problems in controlling their temper and attendant difficulties in socialization.

24 Jun 2011

New insight into progressive supranuclear palsy

There are new genetic clues on risk factors and biological causes of a rare neurodegenerative disease called progressive supranuclear palsy (PSP), according to a new study from an international genetics team led by researchers from the Perelman School of Medicine at the University of Pennsylvania.

20 Jun 2011

Initial data from COMPLETE study on peripheral T-cell lymphoma presented at ICML 2011

Allos Therapeutics, Inc. today announced the presentation of initial data from COMPLETE, an international registry designed to address the urgent need for an increased understanding of the treatment patterns and outcomes for patients with peripheral T-cell lymphoma.

16 Jun 2011

Trimeris, Synageva enter definitive merger agreement

Synageva BioPharma Corp., a privately held biopharmaceutical company developing therapeutic products for rare disorders, and Trimeris, Inc., announced today that they have entered into a definitive agreement under which Synageva will merge with Trimeris in an all-stock transaction.

13 Jun 2011

Final data from Alexion's Soliris Phase 2 studies on aHUS presented at EHA 2011

Alexion Pharmaceuticals, Inc. today announced the presentation of final data from the two Phase 2 studies of Soliris as a treatment for patients with atypical hemolytic uremic syndrome.

13 Jun 2011

Study links mutations in essential genes with orphan diseases

Mutations in genes essential to survival are behind so-called orphan diseases, explaining in part why these diseases are rare and often deadly, according to a study appearing in The American Journal of Human Genetics.

10 Jun 2011

Alexion's sBLA for Soliris receives FDA Priority Review designation to treat aHUS

Alexion Pharmaceuticals, Inc. announced today that the U.S. Food and Drug Administration has granted the Company's request for Priority Review of its supplemental Biologics License Application for Soliris as a treatment for patients with atypical Hemolytic Uremic Syndrome.

1 Jun 2011

Defiante, Dyax expand KALBITOR partnership to treat hereditary angioedema

Dyax Corp. and Defiante Farmaceutica S.A., an affiliate of the pharmaceutical group Sigma-Tau, announced today an expansion of their strategic partnership for KALBITOR in the treatment of hereditary angioedema and other therapeutic indications to include development and commercialization rights in Latin America, excluding Mexico and the Caribbean, Taiwan, Singapore and South Korea.

31 May 2011

Life Technologies launches new genomic analysis software

Addressing the issue of data overload from next-generation sequencers, Life Technologies Corporation today launched its LifeScope 2.0 Genomic Analysis Software, a significantly enhanced bioinformatics system for analyzing data from genomic sequencing instruments to study human disease such as cancer.

27 May 2011

ViroPharma launches documentary film on hereditary angioedema

ViroPharma Incorporated today announced the launch of the documentary Swell, a twenty-five minute film that allows families dealing with the rare genetic swelling disease, hereditary angioedema, to share the challenges and triumphs of living with a chronic disorder.

27 May 2011

Isis receives $5M milestone payment from GSK for initiating ISIS-TTRRx Phase 1 study

Isis Pharmaceuticals, Inc. announced today that it has earned a $5 million milestone payment from GlaxoSmithKline related to the initiation of a Phase 1 clinical study for ISIS-TTRRx.

19 May 2011

Cytonet receives FDA orphan drug designation for liver cell infusion to treat urea cycle disorders

International biotechnology firm Cytonet, which is investigating a liver cell infusion of donated human liver cells for the treatment of urea cycle disorders in young children, announced it has been granted orphan drug designation by the U.S. Food and Drug Administration.

18 May 2011

Scientists uncover gene responsible for Adams-Oliver Syndrome

Scientists at King's College London have, for the first time, uncovered a gene responsible for Adams-Oliver Syndrome, a condition which can cause birth defects of the heart, limbs, or blood vessels.

13 May 2011