This study wants to learn how adults with Down syndrome (DS) respond to everyday stress compared with adults without DS of the same sex and age. This study will look at changes in heart rate, blood pressure, and other body responses during stress.
Evaluate the safety and efficacy of a 6-month treatment with the JAK1/3 inhibitor in individuals ages 6-22 (inclusive) with Down syndrome.
In this study we want to learn more about achondroplasia and the genetic factors and health outcomes linked to it. To do this, we are collecting DNA (from saliva samples) from people who have achondroplasia and their family members.
This study will collect data from health records about people that have variations in their X & Y chromosomes to learn about their health. We also ask if people are willing to join future studies about X & Y variations.
This study wants to collect medical information from people with Turner Syndrome at clinics across the country to learn more about the condition. We are gathering this data in a national registry to help improve the health and care for people with Turner Syndrome in the future.
This study wants to better understand Down syndrome and related health problems by comparing blood and saliva samples from people with and without Down syndrome. Right now, we are mainly looking for people who do not have Down syndrome but do have chronic constipation to join our study.