GENETIC DISEASE

This study looked at 157 people from Amish and Mennonite communities to find the genes behind rare inherited disorders. Researchers collected blood or cheek swabs and built a computer database of family trees. The goal is to better understand these diseases and improve future dia…

This study looked for new or overlooked genetic changes in people with inherited diseases, especially those whose standard genetic tests were unclear. Researchers examined DNA from 56 patients and their family members to find hidden variants that might explain their condition. Th…

This study observed how doctors discuss noninvasive prenatal testing (NIPT) with pregnant women during their first visit. The goal was to learn how to better support women in making informed decisions about this screening. About 691 pregnant women participated, and researchers me…

This study looked at whether a short video could help parents and teens better understand genetic testing after a new cancer diagnosis. Over 350 families from a children's hospital took part. The goal was to see if the video was helpful and easy to use, not to treat the disease i…

This study looked at 405 adults with sickle cell disease to understand why some develop chronic leg ulcers. Researchers collected skin swabs, blood, saliva, and hair samples, and asked participants about their life and environment. The goal was to identify bacteria and social fac…