Children, adolescents see Spinraza benefits in real-world study Written by Andrea Lobo | Oct. 26, 2026 Treatment with Spinraza (nusinersen) led to sustained improvements in motor function in children and adolescents with spinal muscular atrophy (SMA), according to a real-world study from Czechia…
Dec 14, 2022, 07:00 ET AOC 1001 delivered siRNA to skeletal muscle and produced meaningful DMPK reduction in 100% of participants with a 45% mean reduction in DMPK after a single dose of 1 mg/kg or two doses of 2 mg/kg AOC 1001 produced splicing improvement of…
By Emily Leclerc, Waisman Science Writer It’s hard to predict how a small decision may make a major impact on a person’s life. For Albee Messing, VMD, PhD, Waisman investigator, the decision to pursue what others deemed a ridiculous idea…
Working with clinical researchers at Cleveland Clinic Abu Dhabi, the brain-computer interface company takes next step toward bringing transformative neurotechnology to patients worldwide... Precision Neuroscience Expands Clinical Network Beyond the U.S. with First International Site in Abu Dhabi Working with clinical…
A woman in her twenties who cannot feel skin pain, tickling, strongly spiced food, or cold weather has drawn the attention of geneticists because she carries a pathogenic variant in the NAA10 gene. The case, described in BMC Medical Genomics, is…
Our experienced, multidisciplinary team of specialists provides comprehensive care for all forms of NF and supports the emotional well-being of patients and fam Genetic Testing and Genetic Counseling for Neurofibromatosis Type 1 (NF1) In most cases, a diagnosis of NF1 is made through…
The plan builds on recent FDA moves to speed “personalized” treatments by offering an approval framework for therapies benefiting different subsets of patients with the same disease. The promise of personalized gene-editing therapies burst into the national conversation in May…
MRI studies of patients and dysferlinopathic mice reveal early fatty degeneration of spinal muscles driven by adipogenic progenitors, with GSK3 inhibition blocking the process in preclinical tests.
October 28, 2026 by University of Michigan Health Gene therapy is no longer the future of medicine — it’s reality. Treatments that replace, silence or edit genes are already changing clinical care. There are more than 6,000 rare genetic disorders but only a fraction…
Myobundles were treated as technical replicates within each donor. Because the study included a single donor per condition, the results are presented descriptively, without inferential statistics. Compared with myobundles from the healthy pediatric donor, constructs from all three donors with…
Rare diseases and the research on them: diagnostic odysseys, patient-led research, orphan drugs and trials.
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