National Human Genome Research Institute (nhgri)

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 the same households to understand how culture and family ties help or hinder these conversations. The goal i…

This study watched and interviewed genetic counselors at NIH to learn how they help patients deal with the emotional and social sides of genetic testing. About 45 people took part, including counselors and their patients. The goal was to understand the strategies counselors use t…

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 whether giving mothers a family health history package could help them teach their families about disease risks and encourage healthier eating and physical activity. About 310 adults with children took part, completing surveys and interviews. The goal was to …

This study looked at 112 people with differences in their sex chromosomes (X and Y) to learn more about related health issues like infertility. Participants had medical tests, imaging, and blood/urine samples taken over about 5 days. No treatment was given—the goal was to gather …

This study looked at people with Moebius syndrome and similar conditions that make it hard to move the face or eyes. Researchers wanted to understand the genetic causes and describe the physical and mental features of these disorders. Over 200 participants, ages 2 to 80, had medi…

This study looked at 157 people from Amish and Mennonite communities to find the genes behind certain inherited disorders that are more common in these groups. Researchers collected blood or cheek swab samples and built a computer database of family trees using community records.…

This study looked at the genetic causes of congenital heart disease (heart problems present at birth) 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 the condition. The goal was…

This study looked at people with two rare genetic disorders—GACI and ARHR2—that cause dangerous calcium buildup in arteries and bone problems. Researchers reviewed medical records and collected blood samples from 48 patients and their family members to track how the diseases prog…

This study followed 78 adults with GNE myopathy, a rare genetic disease that causes progressive muscle weakness, typically starting in young adulthood. Researchers collected medical history, blood samples, muscle strength tests, and imaging over 18 to 24 months to learn how the d…

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

This study aimed to find genetic and environmental factors that cause asthma in people of African, African American, or African Caribbean descent. Researchers collected health questionnaires, blood, skin, and breathing test data from 83 adults with or without asthma. No treatment…

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 how family and friends support people caring for someone with an inherited disease. Researchers surveyed over 680 caregivers and family members to understand their stress, worries, and social connections. The goal is to use this information to create better s…

This study used PET and MRI scans to compare brain dopamine function in people with Gaucher disease, Parkinson's disease, or a family history of these conditions, against healthy volunteers. Researchers aimed to detect early brain changes linked to glucocerebrosidase gene mutatio…

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 whether a person's genes 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. By analyzing their DNA, the team hopes to uncover genetic clues that could lead to…

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…

This study gathered information from the medical records of women with rare metabolic conditions (inborn errors of metabolism) who were pregnant or planning pregnancy. Researchers aimed to understand how these conditions affect both mother and baby. No extra tests or treatments w…

This study looked at how genetics, environment, and social factors like neighborhood and income affect COVID-19 and heart health in African Americans. Researchers interviewed 431 participants and did physical exams, blood tests, and heart function tests. The goal was to understan…

This study looked at how giving parents health information changes the food choices they make for their young children. Over 1,100 mothers and fathers of kids ages 3-7 answered online surveys and used a virtual reality buffet to pick a meal for their child. The goal was to unders…