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 ...

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 ...

Neuroscience

Immune cells help protect brain health and cognition, finds study

Scientists have discovered that immune cells, known as microglia, help maintain the health of myelin—the insulating layer that forms around nerve cells—which is important for nerve cells in the brain and spinal cord to ...

Medical economics

Implementing personalized medicine in hospitals

Imagine a patient with a rare genetic disorder that makes their arms and legs have imprecise and slow movements. For years, the patient has faced serious restrictions in day-to-day life. They tried several treatments, but ...

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