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…
The ‘heart’ of the Fanconi anemia core complex, composed of FANCB-FANCL-FAAP100 (now FANCX) proteins, allows the rest of the core complex to assemble, and is necessary for downstream DNA repair. From patient to pathway It was then that FAAP100 officially gained…
For almost 50 years, Fanconi anemia has been associated with leukemia. Not just among those who have the genetic disorder but among their family members, whose genes, they were told, made them highly susceptible to a variety of malignancies. But a…
Dublin, Oct. 29, 2026 (GLOBE NEWSWIRE) -- "Shotgun Metagenomics Clinical Reporting Market Global Report 2026" has been added to ResearchAndMarkets.com's offering. The global shotgun metagenomics clinical reporting market is experiencing rapid growth as healthcare organizations increase their use of advanced genomic testing for…
Cell and Gene Therapies (CGTs) present unique development challenges, from novel manufacturing processes and delivery methods to complex nonclinical programs and evolving regulatory expectations. For sponsors developing these therapies, engaging with the FDA early and often can help clarify development…
Newswise — ROCHESTER, Minn. — Mayo Clinic researchers have found that genetic testing can help identify people who carry inherited blood disorder traits, including individuals who may not otherwise know their carrier status. Earlier identification can create opportunities for genetic counseling, informed…
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…
Rare and inherited diseases: the research behind diagnosis and treatment, inherited blood and muscle disorders, and genetic screening.
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