News

June 24, 2020June 24, 2020

2 New Mutations Linked to Epidermolysis Bullosa Pruriginosa in Case Study

Two novel mutations in the COL7A1 gene have been linked to epidermolysis bullosa pruriginosa (EBP), which is characterized by severe itching of the skin, or pruritus, according to a ... Read more

June 22, 2020June 22, 2020

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

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The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will ... Read more

June 17, 2020June 17, 2020

CRISPR/Cas9 Gene Editing May Correct Genetic Defect in DEB, Study Suggests

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A CRISPR/Cas9-based gene editing strategy was able to restore production of type VII collagen protein (C7) in skin cells from a patient with severe dystrophic epidermolysis bullosa (DEB), a ... Read more

June 10, 2020June 10, 2020

Coalition Will Address Racial Disparities in Rare Disease Communities

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The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis ... Read more

June 3, 2020June 3, 2020

Collaboration Seeks Treatments for Diseases Caused by Nonsense Mutations

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A new collaboration between the University Carlos III Madrid (UC3M), Almirall, and the Medina Foundation aims to find treatments for recessive dystrophic epidermolysis bullosa (RDEB) and other genetic diseases ... Read more

May 29, 2020May 29, 2020

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

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While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene ... Read more

May 27, 2020May 27, 2020

PTR-01 Shows Signs of Efficacy in RDEB Patients, Early Trial Data Reveal

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Treatment with PTR-01 is well-tolerated and safe, and increases the levels of collagen type VII (C7) in the skin of adults with recessive dystrophic epidermolysis bullosa (RDEB), early data from ... Read more

May 25, 2020May 25, 2020

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

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European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session ... Read more

May 21, 2020May 21, 2020

Video Games Connect Chronically Ill Children Isolated at Home, Hospital

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Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s ... Read more

May 20, 2020May 20, 2020

Gentamicin Promotes Wound Closure in Severe JEB Patients, Phase 1/2 Trial Shows

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When applied directly over skin wounds, the antibiotic gentamicin can restore the production of laminin 332 and promote wound closure in people with generalized severe junctional epidermolysis bullosa (GS-JEB), ... Read more

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