Diseases, Conditions, Syndromes

Faulty gene regulation triggers the kidney disease FSGS

The Clinical Institute of Pathology at the MedUni Vienna has discovered a previously unknown mechanism in the regulation of gene expression that leads to the development of a chronic renal condition known as focal segmental ...

Autism spectrum disorders

Whole-exome sequencing identifies inherited mutations in autism

While autism clearly runs in some families, few inherited genetic causes have been found. A major reason is that these causes are so varied that it's hard to find enough people with a given mutation to establish a clear pattern. ...

Oncology & Cancer

Metabolic profiles essential for personalizing cancer therapy

One way to tackle a tumor is to take aim at the metabolic reactions that fuel their growth. But a report in the February Cell Metabolism shows that one metabolism-targeted cancer therapy will not fit all. That means that ...

Medical research

MECP2 duplication affects immune system as well as brain development

In 1999, Dr. Huda Zoghbi and colleagues at Baylor College of Medicine identified the genetic cause of Rett syndrome (a neurological disorder that begins after birth) – MECP2 mutation. Too little of the MeCP2 protein associated ...

Genetics

Diagnosing hearing loss at a fraction of the time and cost

Over 28 million Americans are hearing impaired, and 50 percent of these cases can be traced to genetic causes. The condition can be especially challenging for children born hearing impaired because spoken language, reading, ...

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