Sussex six-year-old one of just 75 people worldwide with rare genetic disorder

Teen Diagnosed with Rare Condition After Illness

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies

Neuronopathic Gaucher disease (nGD) is a lysosomal storage disorder caused by GBA1 mutations, leading to defective acid β-glucosidase (GCase

England's Generation Study plans to sequence 100,000 babies' DNA for disease screening and research

The genomic generation is on its way

One-Time Gene Therapy Restores Vision in 6-Year-Old with Rare Congenital Blindness

Saffie Sandford from Stevenage was diagnosed with Leber's Congenital Amaurosis, (LCA) a mutation in the RPE 65 gene.

Unplugged: How a Heart Attack at 52 Woke Me Up to the Biggest Lie in Medicine - Mark Kaplan's Memoir on Genetic Heart Disease

Unplugged: How a Heart Attack at 52 Woke Me Up to the Biggest Lie in Medicine [Kaplan, Mark] on Amazon.com. *FREE* shipping on qualifying of

(Media Feature) Chinese people have higher risk of hereditary Lynch syndrome and cancer

Image credits: Photo by Zeng Kunshun, taken from Lianhe Zaobao. Singapore’s genomic research has found that Lynch syndrome, an inherited con