Genetics

Rare genetic disease may protect Ashkenazi Jews against TB

Scientists may have solved the question of why Ashkenazi Jews are significantly more susceptible to a rare genetic disorder known as Gaucher disease—and the answer may help settle the debate about whether they are less ...

Genetics

Genetic mutation linked to hereditary spastic paraplegia

A genetic mutation in the SPTSSA gene is identified as the cause of hereditary spastic paraplegia, a rare disease that causes progressive weakness, stiffness and spasticity in the lower extremities, according to a study published ...

Medical research

Zebrafish model helps explain eye development

Scientists at the National Eye Institute (NEI) have developed a zebrafish model of NEDBEH—a rare genetic disorder that can cause coloboma, where parts of the eye are missing due to developmental defects. The model provides ...

Medical research

Drug can spur liver regeneration in Alagille syndrome

Research led by Associate Professor Duc Dong, Ph.D., has shown for the first time that the effects of Alagille syndrome, an incurable genetic disorder that affects the liver, could be reversed with a single drug. The study, ...

Genetics

Zinc could treat a rare genetic disorder

Pediatric encephalopathies of genetic origin cause severe motor and intellectual disabilities from birth. One of these diseases, first identified in 2013, is caused by mutations in the GNAO1 gene. In order to understand the ...

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