ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting…
Custom Gene Editing Helps Baby With Rare Condition | Health
Key Takeaways A baby with a rare genetic disorder received a custom gene editing treatment Docs used a…
Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective
Yang L, Liu X, Li Z, Zhang P, Wu B, Wang H, et al. Genetic aetiology of early…
Angelini Ventures Co-Leads $45 Million Series B Financing
Angelini Ventures marks its first investment in the cardiovascular and gene therapy space – and first in Asia,…
Genetic medicine can leave people with rare mutations behind. But there’s new hope
Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking…
Hemizygous SMARCA1 variants cause X-linked intellectual disability
Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. X-Linked intellectual disability update 2022. Am…
Genetic medicine can leave people with rare mutations behind. But there’s new hope
Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking…
Report of a missense TJP2 variant associated to PFIC4 with a pronounced phenotypic variability: Focus on the structural effects on the protein level
Amer S, Hajira A. A comprehensive review of progressive familial intrahepatic cholestasis (PFIC): genetic disorders of hepatocanalicular transporters.…