Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome

This study tests a software platform called Nest that helps young adults (ages 18-49) with inherited cancer risks manage their care. Participants will use the tool to track screening and share information with doctors and family. Researchers will compare users to non-users to see…

This study is testing a blood test called GRAIL Galleri that looks for signs of many different cancers at once. It is being offered to 1000 people who have a high risk of cancer due to inherited genetic conditions. The goal is to see if the test can find cancers early, when they …

This study aims to find hidden genetic changes in people with disorders of sex development (DSD) whose standard genetic tests came back normal. Researchers will use a new technique called Optical Genome Mapping on a blood sample from 20 participants. The goal is to see if this me…

This study aims to better understand and treat people with certain inherited metabolic or genetic disorders. Researchers will use standard medical tests like blood work and imaging to diagnose and care for participants, who may also join other related studies. The goal is to expa…

This study collects blood, urine, saliva, and tissue samples from nearly 6,000 people who have or may have cancer, including rare inherited forms. The samples are stored and used for research to understand the genetic and molecular basis of cancer. No new treatment is being teste…

This study collects extra blood, urine, and tumor samples from children and adults with certain cancers to build a large tissue repository. Researchers will analyze these samples to learn more about the genetic and molecular makeup of these tumors. The goal is to support future s…

This study at the National Institutes of Health is looking at 1,000 adults with known or suspected hormone gland (endocrine) disorders. The goal is to better understand these conditions and help train doctors. Participants may receive tests, treatments, or surgery as part of thei…

This study enrolls up to 15,000 children with known or suspected endocrine or metabolic disorders, along with their family members. Researchers will collect medical records, blood, saliva, and other samples to identify genetic changes linked to these conditions. The goal is to be…

This study looks at whether freezing ovarian tissue can help preserve fertility in people aged 2-21 with conditions like Turner syndrome, galactosemia, or premature ovarian insufficiency. Participants may have surgery to remove and freeze a gonad, with a small piece used for rese…

This study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

This study follows 56 young adults who have a genetic condition that raises their cancer risk. After they graduate from pediatric care at St. Jude, researchers track whether they find adult doctors and continue regular cancer screenings over 8 years. Participants fill out surveys…

This study tests whether web-based tools can help people with hereditary cancer syndromes share risk information with their relatives and encourage them to get genetic testing. Researchers will enroll 625 participants (patients and their relatives) and track how many use the tool…

This study looks at genetic changes in families to figure out which ones truly increase cancer risk. Researchers will analyze DNA from 11,000 people, including those with certain gene variants and their relatives. The goal is to improve genetic counseling and help doctors decide …

This study enrolls adults with known or suspected endocrine (hormone gland) disorders, such as diabetes or thyroid disease, to help researchers learn more about these conditions. Participants will undergo medical exams, blood and imaging tests, and possibly genetic testing. The m…

This study is collecting medical data, blood, saliva, and tissue samples from up to 11,000 children, teens, and adults with known or suspected gynecologic conditions. The goal is to create a large database to better understand these conditions, including disorders of sex developm…

This study is testing a new online platform called Nest for young adults aged 18-39 who have had genetic testing for cancer risk. The platform gives both patients and their doctors access to updated information about genetic findings. Researchers want to see if the tool is easy t…

This study from St. Jude Children's Research Hospital looks at how parents and children (ages 10-24) talk about the child's genetic risk for cancer. The goal is to understand what helps or hinders these conversations, so doctors can create better education programs. The study wil…

This study is testing a tool called B-COMPASS that uses a 22-question survey to predict whether people will follow their prescribed treatments. Researchers will enroll 3100 adults with cardiovascular, endocrine, immune, nerve, cancer, or rare diseases across Europe. The goal is t…

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

This study is looking at 2,000 people who have early warning signs of blood cancers or bone marrow failure. Researchers use a special genetic test (next generation sequencing) to find changes in cancer-related genes. The goal is to better understand who is at risk and to catch th…

This study compares two methods of offering cancer genetic testing to patients in community health centers. One method lets primary care doctors order tests directly, while the other uses a specialist model with extra support. Researchers will track how many patients get tested a…

This study compares a self-guided online genetic testing program to standard in-person counseling for people at risk of hereditary cancer. About 1,000 adults who meet national guidelines for genetic testing will participate. The goal is to see if the online option works just as w…

This study looks at a new way to help family members of cancer patients learn if they have inherited a higher risk for cancer. About 240 people with a known cancer gene change will be asked to share their test results with their close relatives, either on their own or with help f…

This study aims to discover new genes that increase the risk of developing cancer, especially in people with a strong family history or unusual cancer patterns. Researchers will analyze genetic data from 1,500 adults and children who have or may develop inherited cancer. The goal…

This study follows children under 21 who have a genetic condition that raises their risk of developing cancer, along with their relatives. Researchers will collect health information and samples over time to better understand how these cancers develop and how to catch them early.…

This study compares two ways to provide pre-test genetic counseling to people at high risk for hereditary cancers: a chatbot (Genetic Information Assistant) versus a live telegenetics session with a genetic counselor. About 96 participants will be randomly assigned to one method,…

This study collects tissue samples, medical data, and family histories from over 1,100 people being screened for colorectal or endometrial cancer. Researchers hope to discover new genes and mechanisms that increase cancer risk, especially in hereditary cancer syndromes. The goal …

This study is testing whether using rapid genetic sequencing can help doctors diagnose and treat birth defects in newborns in intensive care. Researchers will enroll 2,000 babies and compare death rates, disability rates, and genetic findings. The goal is to see if personalized t…