Xeroderma pigmentosum (XP) is a rare and devastating genetic disorder characterized by an inability to repair skin damage caused by ultraviolet (UV) light. As a result, patients with XP develop skin cancers, usually in childhood. ...
Jun 11, 2023
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Pulmonary hypertension may be postcapillary—a result of an increase in pulmonary venous pressure in left-sided heart diseases—or pre-capillary, caused by pulmonary vascular remodeling or lung diseases, leading to increased ...
Jun 2, 2023
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A new distributional cost-effectiveness analysis of gene therapy versus standard-of-care for sickle cell disease (SCD) found that while gene therapy is cost-ineffective by conventional measures, it can be an equitable therapeutic ...
May 29, 2023
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Robert Weymouth, 58, of Portland, Maine, died this year because of a tick bite.
May 25, 2023
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Rare diseases are often caused by defects in genetic material. If children inherit a defective gene from only one parent, they often are asymptomatic "carriers"—or at least that was the previous assumption. However, a research ...
May 23, 2023
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A current monitoring of the Austrian Institute for Health Technology Assessment (AIHTA) shows that the member companies of PHARMIG have disclosed their financial contributions to patient initiatives significantly more often ...
May 22, 2023
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The gene ECHS1 encodes for enoyl-CoA hydratase short-chain 1, a mitochondrial enzyme involved in branched-chain amino acid and fatty acid metabolism. Rare inherited mutations in the ECHS1 lead to mitochondrial ECHS1 deficiency, ...
May 18, 2023
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Researchers in the Department of Biomedical Informatics (DBMI) at the University of Colorado School of Medicine have reached a major milestone in developing standards and tools for creating phenopackets that may foster more ...
May 17, 2023
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Sometimes scientists arrive at new findings and discoveries by chance. That was the case when Thilini Gamage was to carry out one of the studies in her doctoral work with Professor Eirik Frengen at the Institute of Clinical ...
May 16, 2023
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Mice with a defective human gene responsible for a rare genetic disease called congenital adrenal hyperplasia, have been developed for the first time. The achievement, presented at the 25th European Congress of Endocrinology, ...
May 15, 2023
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