Genetics

Examining the causal mechanism behind rare hereditary diseases

Universitätsmedizin Berlin, the Max Planck Institute for Molecular Genetics (MPIMG), and the University Hospital Schleswig-Holstein (UKSH) have investigated in detail how BPTA syndrome, an extremely rare hereditary condition, ...

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 ...

Medical research

Promising gene therapy delivers treatment directly to brain

When Rylae-Ann Poulin was a year old, she didn't crawl or babble like other kids her age. A rare genetic disorder kept her from even lifting her head. Her parents took turns holding her upright at night just so she could ...

Neuroscience

CRISPR-based strategy restores neurons affected by Rett syndrome

Rett syndrome is a rare, progressive neurodevelopmental disorder that typically affects girls, causing severe intellectual disability, loss of motor skills, and autism-like symptoms, and there is currently no cure. Rett syndrome ...

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