Kimmtrak has received FDA approval as the first treatment for uveal melanoma, a rare cancer of the eye. This drug was developed by Immunocore in the UK and has shown superior efficacy results in clinical trials compared to conventional treatments.
Gene therapy company Sarepta has announced a partnership with GenEdit, a startup that develops gene-editing technology. This collaboration gives Sarepta exclusive rights to license GenEdit's gene delivery technology for up to four neuromuscular diseases.
Pfizer has stopped developing its heart disease treatment vupanorsen. Pfizer acquired rights to license vupanorsen, an antisense therapy, from Ionis Pharmaceuticals in 2020 and was conducting clinical trials. It is known that there were issues in both efficacy and safety in the Phase 2b clinical trial. Rights to vupanorsen will be returned to Ionis.
Researchers at the Children's Hospital of Philadelphia (CHOP) have published the results of a study in Molecular Genetics and Metabolism to diagnose mitochondrial disease using a mitochondrial DNA sequencing test.
In an interview with Mary Frances Harmon, PTC's Vice President of Corporate and Patient Relations, she said it was important for rare disease companies to develop close relationships with patients from the early stages of research and development.
Dr. Osman Demirhan of the University of Cukurova in Turkey discovered a genetic variant that causes a rare skeletal disease. Rare skeletal disease is known to occur in about 1 in 5,000 people, but in the Middle East, where cousin marriages are common, the rate is reported to be much higher.
Korea's National Bio Big Data Project, one of the world's largest big data national projects, was introduced in Nature Portfolio. From 2020, genomic data and biomedical information of patients with rare diseases have been collected from 16 hospitals across Korea. As a result of this national project, by the end of 2020, 990,000 Koreans have participated in data collection, 1,365 research papers have been published, and 109 patents have been issued.
세계 최대 빅데이터 국가사업 중 하나인 한국의 국가 바이오 빅 데이터 프로젝트(National Bio Big Data Projet)가 소개되었습니다. 2020년부터 한국 전역의 16개 병원에서 희귀질환 환자의 유전체 데이터 및 의료 정보가 수집 되고 있습니다. 이 국가사업의 성과로, 2020년 말까지 990,000명의 한국인이 데이터 수집에 참여했고 1,365건의 연구 논문과 109개의 특허가 출원되었습니다. Original Article: Nature Portfolio.Resourcing research into genomic medicine
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