A Japanese familial spastic paraplegia associated with a missense UBQLN2 variant
Statland JM, Barohn RJ, McVey AL, Katz JS, Dimachkie MM. Patterns of weakness, classification of motor neuron disease,…
Early lipid genetics: identification of common and rare genetic variants for lipid traits in Indian adolescents
Heller DA, de Faire U, Pedersen NL, Dahlen G, McClearn GE. Genetic and environmental influences on serum lipid…
Gene-Therapy Treatment Of Infant With Rare Genetic Condition Successful In World First » TwistedSifter
Pexels When baby KJ was born with a rare disease, which could cause a potentially fatal amount of…
Pathogenic ZNF319 variant disrupts nuclear localization and transcriptional regulation to cause a novel form of autosomal recessive leukodystrophy
van der Knaap MS, Bugiani M. Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms.…
New generation of CRISPR shows safer path to treating genetic diseases
A new generation of CRISPR technology developed at UNSW Sydney offers a safer path to treating genetic diseases…
Join Sept. 18 with George Church and this year’s top biotech startups
I asked AI the other day how many biotechs have been co-founded by Harvard’s George Church. About 50…
Opus Genetics Announces Financial Results for Second Quarter 2025 and Provides Corporate Update
Opus Genetics, Inc. – Positive 12-month Phase 1/2 clinical data in adult cohort and early pediatric clinical data…
Genetic insights into the origin, admixture, and migration of the early Austronesian peoples
Shutler R, Marck JC. On the dispersal of the Austronesian horticulturalists. Archaeology Phys Anthropol Ocean. 1975;10:81–113. Google Scholar …
When ganglioside pathways go awry: congenital disorders and experimental insights
Thudichum JLW. A treatise on the chemical constitution of the brain: Bailliere, Tindall, and Cox, London; 1884. Chiricozzi…
FDA vaccine chief Vinay Prasad leaves following criticism from Laura Loomer
WASHINGTON (AP) — The Food and Drug Administration’s polarizing vaccine chief is leaving the agency after a brief…