Diseases, Conditions, Syndromes

First controlled clinical trial for Juvenile Batten disease to start

After years of building hope for a treatment, Rochester researchers and clinicians will begin the first controlled clinical trial for Juvenile Batten disease this summer, thanks to $1 million in grants from the Food and Drug ...

Genetics

Gene mutations predict early, severe form of kidney disease

The most common kidney disease passed down through families, autosomal dominant polycystic kidney disease (ADPKD) affects one in 400 to 1,000 individuals and is characterized by cysts on the kidneys. The condition slowly ...

Ophthalmology

Researchers probe genetic link to blindness

University of Leeds researchers have used next-generation DNA sequencing techniques to discover what causes a rare form of inherited eye disorders, including cataracts and glaucoma, in young children.

Oncology & Cancer

Exploring the deep link between cancer and genetics

As the cost of genome and exome sequencing falls, its use in characterizing rare diseases and personalizing cancer treatment, for example, is becoming far more frequent. But such analyses may throw up findings unrelated to ...

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