Spontaneous Hemoperitoneum Could Present as First Sign of GIST

Spontaneous hemoperitoneum rarely presents as the first sign of gastric tumors, including gastrointestinal stromal tumors (GISTs). However, investigators described 2 patient cases in which spontaneous hemoperitoneum originating from gastric tumors occurred without concurrent abdominal trauma, as published in the International Journal of Surgery Case Reports. These 2 patients presented to the emergency room with acute…

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The Pursuit of Redosable Gene Therapies for Hemophilia With Dr. Doug Kerr

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Doug Kerr, MD, PhD, chief medical officer at Generation Bio in Cambridge, Massachusetts. The company is aggressively pursuing redosable gene therapies for hemophilia and other rare diseases. Read the full article: Generation Bio Pursues Redosable Gene Therapy for Hemophilia A

Genetic research

A New Approach for Correcting Diverse DMD Mutations

Researchers have developed homology-independent targeted integration (HITI)-mediated gene editing to correct full-length human dystrophin in Duchenne muscular dystrophy (DMD). The authors of this new method observed full-length dystrophin restoration in skeletal and cardiac muscles of a humanized mouse model of DMD, the hDMDΔ52/mdx model, recently published in Molecular Therapy. The mice contained a full-length human…

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Perspectives on Long Chain Fatty Acid Oxidation Disorder With Dr. Jerry Vockley

Larry Luxner, senior correspondent for Rare Disease Advisor, interviews Jerry Vockley, MD, PhD, chief of medical genetics at Pennsylvania’s UPMC Children’s Hospital of Pittsburgh. Dr. Vockley is also the founder of INFORM, the International Network for Fatty Acid Oxidation Research and Management, which will hold its next annual conference virtually October 27-28, 2021. Read the…

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