Genetic disease

Researchers want to know how common a BRCA2 gene mutation is among people diagnosed with breast cancer on Reunion Island. Earlier work found that more than half of patients there with a BRCA mutation carry a variant specific to the island's population. This study collects blood s…

Researchers are studying whether the lining of the small intestine shows signs of inflammation in people with Familial Mediterranean Fever (FMF), a genetic condition that causes recurring fevers and pain. The study compares intestinal biopsy samples from about 30 adults with FMF …

This completed study looked at why people with sickle cell disease develop chronic leg ulcers. Researchers collected skin swabs, blood samples, and survey data from 405 adults to explore the role of skin bacteria and environmental factors. The goal was to better understand the ca…

This study looks at whether a motivational interview—a 20-40 minute phone or video chat—can help people with familial hypercholesterolemia (FH) get their cholesterol checked and talk to family about screening. About 300 people with suspected or confirmed FH will be randomly assig…

This study explored how family members share health information about genetic diseases like sickle cell, diabetes, and cancer. Over 1,000 adults completed surveys or interviews about their family health history and support. The goal was to understand social and relational factors…

This study looked at whether an informational video could help parents and teens better understand genetic testing after a new cancer diagnosis. About 355 families from a children's hospital took part. The goal was to see if the video was acceptable and improved knowledge about g…

This study followed 43 infants with rare genetic disorders to track their development from birth up to age 3, with medical records reviewed until age 18. Researchers used a standard developmental assessment tool to understand each child's unique needs. The goal was to gather info…

This completed study looked at inherited disorders common in Amish and Mennonite populations. Researchers collected medical histories, blood or cheek swab samples from 157 participants to find the genes behind these conditions. They also built a computer database of family trees …

This study tested a shared decision-making tool called NEST to help pregnant women understand and choose noninvasive prenatal testing (NIPT). Over 600 pregnant women participated, comparing those who used the tool with those who received usual care. The goal was to see if the too…

This study aimed to find new genetic changes that might cause inherited diseases, especially in people who already have a diagnosis but whose genetic tests were not clear. Researchers studied 56 patients and their family members to look for hidden variants in parts of the DNA tha…