GENETIC DISEASE

This study is testing a custom-made genetic drug for a single child with a rare, severe brain disorder called TUBB4A-related leukodystrophy. The drug is designed to target the child's specific genetic mutation, with the goal of controlling symptoms like muscle stiffness and impro…

This study is testing a custom-made genetic medicine for a single child with a severe, rare brain disease called TUBB4A leukodystrophy. The goal is to see if the personalized treatment is safe and can help control the disease by improving the child's movement, development, and qu…

This study is testing a computer tool called SIGHT that scans children's existing electronic health records to predict if they might have an undiagnosed genetic disease. The goal is to see if alerting doctors to these predictions helps families decide on genetic testing sooner an…

This study aims to see if reading a newborn's entire genetic code (whole genome sequencing) can help doctors find a diagnosis faster than standard tests when a baby is critically ill in the intensive care unit. Researchers will enroll 400 newborns and their parents to compare the…

This study is testing a training program to help children with conditions like spina bifida or cerebral palsy use their manual wheelchairs more safely and independently. It involves 4 children in Michigan and aims to see if the training improves their wheelchair skills, confidenc…

This study tests whether sharing important genetic health risk information through a secure website is as effective as sharing it through a phone call with a genetic counselor. Researchers will enroll 2,500 people who previously donated samples to a biobank and have a genetic res…

This study aims to see if a motivational interview can help people with suspected inherited high cholesterol (familial hypercholesterolemia) better understand their condition and encourage their family members to get tested. Researchers are comparing this special interview approa…

This small, early-stage study is exploring whether powered wheelchairs that can lift a child into a standing position help kids with conditions like cerebral palsy or spinal cord injuries participate more in daily activities. Researchers are working with four children in Michigan…

This study aims to find early signs that predict which people with Alpha-1 antitrypsin deficiency, a genetic disease that can damage the lungs and liver, will get worse quickly. Researchers are following 286 adults with the disease for three years, using CT scans and blood tests …

This research project aims to understand how specific large-scale genetic changes cause rare congenital brain disorders. Researchers will study DNA from up to 10,000 people with suspected rare diseases to pinpoint these changes and then test their effects using patient cells and …