Ophthalmology

Genome surgery for eye disease moves closer to reality

Researchers from Columbia University have developed a new technique for the powerful gene editing tool CRISPR to restore retinal function in mice afflicted by a degenerative retinal disease, retinitis pigmentosa. This is ...

Diseases, Conditions, Syndromes

Drug to treat skin lesions in rare tuberous sclerosis complex approved

Scientists at Osaka University developed a new drug treating skin lesions in tuberous sclerosis complex (TSC), a rare intractable disease, a world first. Following the physician-led clinical studies I and II by Osaka University, ...

Genetics

A new mutation in kidney disease

Medullary cystic kidney disease type 1 (MCKD1) is a rare genetic kidney disease. Despite this, because it is an autosomal dominant disease, once the mutation is in a family, many family members are affected. Current diagnostic ...

Genetics

Whole-exome sequencing IDs genetic cause in quarter of cases

(HealthDay)—For patients with suspected genetic disorders, whole-exome sequencing identifies the underlying genetic defect in 25 percent of cases, according to a study published online Oct. 2 in the New England Journal ...

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