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March 18, 2019

First Patients Dosed in Phase 1/2 Trial Testing PTR-01 for Recessive Dystrophic Epidermolysis Bullosa

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A Phase 1/2 trial evaluating the investigational therapy PTR-01 for recessive dystrophic epidermolysis bullosa (RDEB) has started dosing patients. PTR-01 is a recombinant version of the human protein collagen type VII ... Read more

March 15, 2019March 14, 2019

Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

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Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of ... Read more

March 11, 2019

Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

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With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn screening, to vaccinations, gene therapies and euthanasia. But rare diseases and the expensive therapies needed ... Read more

March 8, 2019March 5, 2019

NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

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Rare diseases affect about 30 million Americans — roughly the same number as those with type 2 diabetes. Yet only 5 percent of the estimated 7,000 rare diseases known ... Read more

March 4, 2019

Prognosis Good for Pediatric Autoimmune Blistering Diseases, but Long-Term Follow-up Needed, Study Says

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Autoimmune blistering diseases, including epidermolysis bullosa, in children have a better prognosis than in adults, but long-term follow-up is necessary for adequate management due to frequent late relapses, a ... Read more

February 25, 2019

WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April

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The world’s biggest gathering of rare disease researchers, patient groups, pharmaceutical executives, and government officials is planned for April 10–12 in a Washington, D.C., suburb. Some 1,200 people have ... Read more

February 22, 2019

Care, Management of EB Simplex Infant During Eye Surgery Detailed in Case Report

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The care and management of a 6-month-old baby with epidermolysis bullosa (EB) simplex during surgery for a corneal transplant was described for the first time in a recent case report. ... Read more

February 21, 2019February 20, 2019

Vienna to Host RARE2019 Meeting on Rare Diseases

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About 100 scientists, researchers, pharmaceutical executives, and others will converge on Austria’s capital city early next month for the 2nd International Congress on Advanced Treatments in Rare Diseases. The ... Read more

February 18, 2019

Mechanism Underlying Fibrosis in RDEB Could Be New Therapeutic Target

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In the absence of collagen 7, the protein missing in recessive dystrophic epidermolysis bullosa (RDEB) patients, the protein thrombospondin-1 (TSP1) plays a key role in the development of fibrosis, or scarred tissue. ... Read more

February 15, 2019

Blocking Inflammatory Pathway Reduces Blisters in EB Simplex Generalized Severe Patients

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A specific class of T cells – called Th17 cells — may drive inflammation in patients with epidermolysis bullosa simplex (EBS) generalized severe, and targeting these inflammatory pathways might ... Read more

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