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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…

IPF prognosis

Prognosis in IPF Remains Poor Amid a Lack of Consensus on Treatment Approach

Idiopathic pulmonary fibrosis (IPF) is an interstitial lung disease of unknown origin. Interstitial lung disease in itself is an umbrella term for various diseases that cause inflammation, cellular proliferation, and fibrosis of lung tissue. The fibrosis of the lung replaces healthy tissue with a modified extracellular matrix that deeply damages it.  There is much we…

Tongue Weakness May Hint at Late-Onset Pompe Disease

Collaborating researchers from various departments at Duke University, Durham, North Carolina, have found that tongue weakness and structural changes, such as atrophy, could hint at late-onset Pompe disease (LOPD) and help differentiate it from other acquired or hereditary causes of myopathy. The study findings could have considerable implications on the clinical approach to LOPD. Late-onset…

Dose Escalation of Ripretinib May Benefit GIST Patients After Disease Progression

Further analysis of a subset of patients from the INVICTUS clinical trial of ripretinib (Qinlock®) showed that dose escalation may provide benefit to patients whose gastrointestinal stromal tumor (GIST) progresses. A group of 43 patients who received 150 mg of ripretinib once daily (QD) during the clinical trial had an initial median progression-free survival (PFS)…

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