Diseases, Conditions, Syndromes

Study zeroes in on mutation linked to zits

Little is known about the genetic causes of pimples and other forms of acne that plague most teenagers. In a new study, a team of Yale researchers identified a genetic mutation responsible for the defects that give rise to ...

Parkinson's & Movement disorders

Identifying a genetic mutation behind sporadic Parkinson's disease

Using a novel method, Whitehead Institute researchers have determined how a non-coding mutation identified in genome-wide association studies (GWAS) can contribute to sporadic Parkinson's disease (PD). The approach could ...

Genetics

Genetic defect underlying a rare disease identified

Researchers at MedUni Vienna have discovered the genetic cause of a rare disease characterized by life-threatening "liver crises" in early childhood and subsequent manifestation of neurological symptoms, such as neuropathy ...

Diabetes

Genomic testing triggers a diabetes diagnosis revolution

Over a 10 year period, the time that babies receive genetic testing after being diagnosed with diabetes has fallen from over four years to under two months. Pinpointing the exact genetic causes of sometimes rare forms of ...

Diseases, Conditions, Syndromes

Canadian study sheds surprising light on the causes of cerebral palsy

Cerebral palsy (CP) is the most common cause of physical disability in children. It has historically been considered to be caused by factors such as birth asphyxia, stroke and infections in the developing brain of babies. ...

Neuroscience

Uncovering a key relationship in ALS

A University of Toronto research team has discovered new details about a key gene involved in ALS, perhaps humanity's most puzzling, intractable disease.

Genetics

Cause of acute liver failure in young children discovered

Acute liver failure is a rare yet life-threatening disease for young children. It often occurs extremely rapidly, for example, when a child has a fever. Yet in around 50 percent of cases it is unclear as to why this happens. ...

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