National Human Genome Research Institute (nhgri)

This study surveyed 186 adults with sickle cell disease (SCD) in the U.S. to learn how the COVID-19 pandemic impacted their stress, anxiety, pain, sleep, and healthcare use. Participants completed online questionnaires about their medical history, mental and physical health, and …

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 at 112 people with differences in their sex chromosomes (like X or Y) to learn more about related health issues such as infertility. Participants had physical exams, blood and urine tests, imaging scans, and hearing/vision checks over about 5 days. No treatment …

This study looked at whether a person's genes affect how sick they get from COVID-19. Researchers collected blood or saliva samples from 721 people in the U.S. who tested positive for the virus. They also asked about health history and symptoms. The goal was to find genetic clues…

This study looked at how family and friends support caregivers of people with inherited diseases like Alzheimer's or metabolic disorders. Researchers surveyed over 680 caregivers and family members to understand their worries, guilt, and social connections. The goal is to use the…

This study looked at how giving mothers health information about their children might change the food choices they make. Over 1,100 mothers of children ages 3-7 took part. They used a virtual reality buffet to pick a meal for their child, both before and after watching a health p…

This study followed 48 people with the rare genetic disorders GACI or ARHR2, along with their family members, to understand how these diseases progress over time. Researchers collected medical records and blood samples to learn more about the conditions and how genes play a role.…

This study looked at why African Americans were more affected by COVID-19. Researchers examined genetic, environmental, and social factors in 431 African American adults already part of a heart disease study. Participants had phone interviews and clinic visits for tests like bloo…

This study looked at how parents of children with undiagnosed medical conditions cope with uncertainty. Researchers surveyed 168 parents to understand how their thoughts and feelings about the unknown affect their ability to manage daily life. The goal was to learn which factors,…

This study gathered medical information from women with rare metabolism disorders (like methylmalonic acidemia) who were pregnant, planning pregnancy, or had been pregnant before. Researchers collected records from doctors and followed mothers and babies for one year after birth.…

This study looked at how Mexican-American families discuss their risk for diabetes, heart disease, breast cancer, and colon cancer. Researchers interviewed 498 adults from Houston-area households to understand how culture and family relationships help or hinder health conversatio…

This study used PET and MRI scans to compare how the brain uses dopamine in people with Gaucher disease or Parkinson's, their family members, and healthy volunteers. The goal was to find early brain changes linked to a specific gene mutation. About 64 adults aged 21 and older too…

This study aimed to learn more about what causes asthma by collecting genetic and health information from 83 adults of African, African American, or African Caribbean descent. Participants provided blood, skin, and breathing test samples, and answered questions about their health…

This study looked for genetic causes of congenital heart disease in over 1,200 people from Uganda and Nigeria. Researchers collected DNA from affected children and their family members to find gene changes linked to heart defects. No treatments or cures were tested; the goal was …

This study looked at whether mothers can help their families adopt healthier habits by learning about their family health history. About 310 adults took part, completing surveys and using a Family Health Package that explained risks for diabetes, cancer, and heart disease. The go…

This study followed 78 adults with GNE myopathy, a rare genetic disease that causes progressive muscle weakness, usually starting in young adulthood. Researchers collected medical history, blood samples, muscle tests, and imaging over up to two years to understand how the disease…

This study looked at 207 people with Moebius syndrome or similar conditions that cause facial weakness. Researchers aimed to learn more about the genetic causes and physical features of these disorders. Participants underwent detailed exams and genetic testing over several days. …

This study looked at how genetic counselors at NIH help patients deal with the emotional and social sides of genetic testing. Researchers observed 45 counseling sessions and interviewed counselors to understand their strategies. The goal was to learn, not to test a treatment.

This study looked at how primary care doctors use genetic test results to decide on the right dose of a blood-thinner drug (warfarin) for virtual patients of different races and backgrounds. Nearly 200 doctors took part in a 60-minute virtual reality session. The goal was to unde…

This study looked at how family members talk about genetic health risks like sickle cell, diabetes, cancer, and heart disease. Over 1,000 adults completed surveys or interviews about their family health history and support. The goal was to understand how sharing this information …

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…