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 ...

Medications

New drug candidate slows the progression of adrenoleukodystrophy

The work of Professor Fanny Mochel (AP-HP, Sorbonne University) at Paris Brain Institute, in collaboration with clinical research teams in eight countries and Spanish biotech Minoryx Therapeutics, has demonstrated the protective ...

Alzheimer's disease & dementia

AI detects rare forms of dementia

Researchers at MPI CBS and University of Leipzig Medical Center have used new artificial intelligence (AI) and machine learning techniques to detect rare forms of dementia on MRI images. In their study, the researchers show ...

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, ...

Neuroscience

Hope for musicians with dystonia

KAIST's neuroscientist and professor, Dr. Daesoo Kim attended the "Conference for Musicians with Dystonia" supported by the World Health Organization (WHO) and the Carnegie Hall concert of legendary pianist João Carlos Martins, ...

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