National Human Genome Research Institute (nhgri)

This study aimed to understand if giving parents health information changes the food choices they make for their children. Over 1,100 parents used a virtual reality buffet to pick a lunch for their child before and after watching a health presentation. Researchers measured if the…

This study aimed to understand how Mexican American families talk about their risk for common diseases like diabetes, heart disease, and cancer. Researchers worked with 498 adults from multigenerational households to see if sharing personalized risk information with the whole fam…

This study aimed to better understand how differences in sex chromosomes (like having an extra X or Y) affect people's health, particularly fertility. Researchers observed 112 participants with known sex chromosome variants, performing detailed physical exams, lab tests, and imag…

This study aimed to understand how the COVID-19 pandemic impacted the daily lives, stress levels, and healthcare use of adults living with sickle cell disease (SCD). Researchers surveyed 186 adults with SCD in the US, asking about their mental health, pain, and access to medical …

This study aimed to understand how doctors make treatment decisions using personalized genetic information. Researchers had 196 primary care residents use virtual reality to interact with a simulated patient needing a blood thinner. The goal was to see if and how the doctors used…

This study aimed to discover the genetic causes of congenital heart disease by studying families in Uganda and Nigeria. Researchers analyzed DNA from over 1,200 participants to understand why these heart defects occur, focusing on unique genetic backgrounds in Africa. The goal wa…

This study aimed to better understand Moebius syndrome and related disorders where people are born with facial weakness. Researchers examined 207 participants and their family members to document symptoms and look for genetic causes. The goal was to gather detailed information to…

This study created a registry to collect health information from women with rare inherited metabolic disorders who are pregnant or planning pregnancy. Researchers gathered medical records to understand how these conditions affect both the mother's health during pregnancy and the …

This study aimed to learn more about two very rare and serious genetic diseases, GACI and ARHR2, which can be fatal in infancy or cause lifelong health problems. Researchers collected medical information from 48 affected individuals and their family members to map out how these d…

This study aims to identify the genes responsible for inherited disorders that are more common in Amish and Mennonite populations. Researchers will collect family histories, medical records, and small tissue samples from participants to build a detailed database of family trees a…

This study aimed to understand why people with sickle cell disease develop chronic leg ulcers that are hard to heal. Researchers examined 405 adults with sickle cell disease, collecting skin swabs to study bacteria, along with blood, saliva, and detailed surveys about their life,…

This study tested whether teaching mothers about their family's health history could motivate their families to adopt healthier behaviors. Researchers gave 310 mothers a toolkit showing their risk for diseases like diabetes, cancer, and heart disease based on family history. They…

This study aimed to better understand the role genetic counselors play in patient care, particularly how they address emotional and social needs. Researchers observed counseling sessions and interviewed counselors at the National Institutes of Health to learn how they help patien…

This study aimed to understand the connection between Gaucher disease and Parkinson's disease by looking at how the brain works. Researchers used PET and MRI brain scans to compare people with these conditions, their family members, and healthy volunteers. The goal was to learn a…

This study aimed to build a collection of health information and biological samples to find genes and other factors linked to asthma. It enrolled 83 adults of African, African American, or African Caribbean descent, both with and without asthma. Researchers collected questionnair…

This study aimed to understand how parents cope when their child has a serious medical condition that doctors cannot diagnose. Researchers surveyed 168 parents whose children had undiagnosed illnesses affecting at least two body systems for over two years. The study explored how …

This study aimed to learn how family members share health information when someone has a genetic-related disease like sickle cell, diabetes, or cancer. Over 1,000 adults who either had such a disease or were related to someone who did completed surveys about their family's health…

This study aimed to understand the stress and health impacts on family members who care for relatives with inherited diseases like Alzheimer's or metabolic disorders. Researchers surveyed and interviewed over 680 caregivers and family members to map their support networks and mea…

This study aimed to understand why African Americans experienced higher rates of COVID-19 infection and death. Researchers followed 431 African American participants from a previous heart health study to examine how social, economic, and genetic factors influenced their risk and …

This study aimed to understand why some people get very sick from COVID-19 while others have mild symptoms. Researchers collected DNA samples and health information from 721 people in the U.S. who tested positive for the virus. The goal was to find genetic differences that might …