Abeona Therapeutics Appoints Carsten Thiel, Ph.D., as Chief Executive Officer

Company strengthens management team with biopharmaceutical veteran bringing extensive commercial experience in life-threatening rare diseases Tim Miller, Ph.D. continues as president and assumes chief scientific officer role NEW YORK and CLEVELAND, A... Biopharmaceuticals, Personnel Abeona Therapeutics, gene therapy, epidermolysis bullosa, Sanfilippo syndrome
Source: HSMN NewsFeed - Category: Pharmaceuticals Source Type: news

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Epidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surfa...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
An inherited disease called epidermolysis bullosa destroyed the 7-year-old's skin. Scientists grew new skin in the lab without the genetic flaw, and replaced 80 percent of his skin. He is thriving.(Image credit: CMR Unimore/Nature )
Source: NPR Health and Science - Category: Consumer Health News Authors: Source Type: news
Conclusion This tool offers new perspectives in a translational context to identify patients for genetic research. Moreover, when new molecular bases are discovered, our strategy will help to identify additional eligible patients for genetic screening. Graphical abstract
Source: Journal of Biomedical Informatics - Category: Information Technology Source Type: research
ConclusionThe findings highlight the need for more research on the shared psychological and social impact of living with a rare diagnosis across conditions, in order to identify risk factors and inform clinical practice. Individuals with rare diseases may face challenges that are different from those experienced in more common medical conditions. We performed a systematic review, including qualitative studies on adults, published between 2000 and 2016. The findings highlight the need for more research on the shared psychological and social impact of living with a rare diagnosis across conditions, in order to identify risk...
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Review Article Source Type: research
A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
Among rare diseases, one of the most dramatic examples is Epidermolysis bullosa (EB), due to the extreme skin fragility these patients have. This disorder its characterized by its large genetic and clinical heterogeneity, caused by mutations in 18 genes and resulting in more than 30 different clinical subtypes, which enormously difficult its diagnosis and prognosis specially at the neonatal period where they all look very similar. We hypothesize there is a genetic basis for some-if not all-phenotypic variation observed in these patients.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetic Disease, Gene Regulation and Gene Therapy Source Type: research
Conversations and healthy debate about issues facing our industry and the health care system are critical to addressing some of today ’s challenges and opportunities. The Catalyst welcomes guest contributors, including patients, stakeholders, innovators and others, to share their perspectives and point of view. Views represented here may not be those of PhRMA, though they are no less key to a healthy dialogue on issues in health care today.We are pleased to host a Q&A with Brett Kopelan, executive director for Debra of America.
Source: The Catalyst - Category: Pharmaceuticals Authors: Tags: Rare Diseases Source Type: news
Conversations and healthy debate about issues facing our industry and the health care system are critical to addressing some of today ’s challenges and opportunities. The Catalyst welcomes guest contributors, including patients, stakeholders, innovators and others, to share their perspectives and point of view. Views represented here may not be those of PhRMA, though they are no less key to a healthy dialogue on issues in health care today.We are pleased to host a Q&A with Brett Kopelan, executive director for Debra of America.
Source: The Catalyst - Category: Pharmaceuticals Authors: Tags: Rare Diseases Source Type: news
Abstract Accurately addressing the diverse and complex issues of rare diseases (RD) in terms of prevention, recognition, diagnosis, treatment, care and research along key RD specificities, such as great heterogeneity, a limited number of patients, scarcity of relevant knowledge and expertise as well as enormous costs for patient care is a challenging task for healthcare providers and authorities that makes a supranational approach particularly feasible. The European Union has acknowledged RD matters by several initiatives, including efforts to implement national centres of expertise and European ref...
Source: Wiener Klinische Wochenschrift - Category: Journals (General) Authors: Tags: Wien Klin Wochenschr Source Type: research
Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Leve...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Source Type: research
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