Genetics

Study: Genetic kidney disorder reversible in preclinical models

Autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder, causes fluid-filled cysts to develop on the kidneys, which can impair their function. As part of the growth of cysts, the kidneys develop inflammation ...

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 ...

Medications

A new drug candidate can shrink kidney cysts

Autosomal dominant polycystic kidney disease (ADPKD), the most common form of polycystic kidney disease, can lead to kidney enlargement and eventual loss of function. The disease affects more than 12 million people worldwide, ...

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 ...

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 ...

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