National Human Genome Research Institute (nhgri)

This completed study looked at how the social networks of caregivers affect their stress and health when caring for someone with an inherited disease. Researchers surveyed over 680 participants, including family members and formal caregivers, to understand caregiving burden and s…

This study examined how Mexican-American families discuss their risk for diabetes, heart disease, breast cancer, and colon cancer. Researchers interviewed 498 adults from Mexican-American households in Houston to understand how culture and family history influence health communic…

This study created a registry of medical records from women with inborn errors of metabolism—rare conditions that affect how the body turns food into energy. Researchers collected data from past or current pregnancies and followed babies for one year after birth. The goal was to …

This study looked at how doctors make decisions about dosing the blood thinner warfarin based on a patient's genetic background. Researchers used virtual reality to simulate patient visits with different racial and socioeconomic backgrounds. 196 internal medicine residents partic…

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

This completed study used PET and MRI scans to compare brain dopamine function in people with Gaucher disease or Parkinson disease, their family members, and healthy volunteers. Researchers aimed to see if certain genetic mutations cause early changes in dopamine storage. The stu…

This study looked at how parents cope when their child has a medical condition that doctors haven't been able to diagnose for at least two years. Researchers surveyed 168 parents to understand how uncertainty affects their ability to cope and how personality traits like optimism …

This study looked at the genes and lifestyle of over 7,400 people in Nigeria to understand why some develop type 2 diabetes. Researchers compared people with and without diabetes to find genetic differences. The goal is to learn more about diabetes causes in African populations a…

This completed study looked at the natural course of two ultra-rare genetic disorders: GACI and ARHR2. Researchers collected medical records and blood samples from 48 affected individuals and their family members. The goal was to better understand how these diseases progress over…

This study looked at 112 people with known differences in their sex chromosomes (X and Y) to better understand how these variations affect health, especially infertility. Participants underwent physical exams, blood and urine tests, imaging, and sensory checks over about 5 days. …

This completed study looked at 83 adults of African, African American, or African Caribbean descent to find genetic and environmental factors linked to asthma. Participants provided blood, skin, and breathing test data. The goal was to build a resource for future research, not to…

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

This study looked at how a person's genes might influence 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. The goal was to find genetic clues that could lead to better treatments in the f…

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 teaching mothers about their family health history can help them encourage healthier eating and exercise in their families. About 310 adults with at least one child took part. Researchers gave them a Family Health Package with personalized risk info a…

This completed study by the National Human Genome Research Institute looked at 207 people with Moebius syndrome or similar congenital facial weakness disorders, along with their family members. Researchers aimed to better understand the genetic and clinical features of these cond…

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 looked for genetic causes of congenital heart disease (heart problems present at birth) in families from Uganda and Nigeria. Over 1,200 people took part, including affected children and their parents. Researchers used advanced DNA testing to find gene changes linked to…

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 looked at why African Americans were more likely to get sick and die from COVID-19. Researchers examined how genetics, environment, and social factors like neighborhood and income might affect heart health after infection. The 431 participants, all African Americans fr…

This study watched and interviewed genetic counselors at NIH to understand how they handle patients' social and emotional needs during sessions. About 45 people took part, including counselors and their patients. The goal was to learn more about this new role in medicine, not to …

This study looked at how giving health information to mothers changes the food choices they make for their young children. Over 1,100 mothers of children ages 3-7 used a virtual reality buffet to pick a meal for their child. Researchers measured the calories selected to see if he…