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Researchers at the National Heart, Lung, and Blood Institute are collecting blood and tissue samples from up to 10,000 people to study rare genetic diseases. They want to understand what causes these diseases by examining the samples in a lab. People of any age with undiagnosed or heart and lung diseases can participate. Samples can be collected at the NIH Clinical Center or through your own doctor.
WHY IT MATTERSThis biorepository is actively recruiting and could help researchers identify the genetic causes of your undiagnosed condition, potentially leading to better treatments and diagnosis methods for rare diseases.
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Researchers at St. Jude Children's Research Hospital are recruiting 385 people—including patients, families, doctors, and scientists—to share their thoughts about ethical questions that come up when testing new treatments for rare brain and nerve diseases. The study wants to understand what different groups of people think is fair and right when designing these small, personalized treatment trials.
WHY IT MATTERSThis study directly shapes how future rare neurological disease trials will be designed and conducted, meaning your input as a patient or caregiver could influence the ethical standards that protect you in future treatment studies.
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Researchers are looking for genetic causes of rare and unusual diseases in people living outside the United States who haven't had access to genetic testing. They're using new, powerful tools to study the DNA of about 400 people to find out what's causing their diseases. This study could help doctors understand and diagnose rare conditions that are hard to figure out.
WHY IT MATTERSThis trial focuses on underserved populations outside the US with limited access to genetic testing, potentially identifying new disease-causing genes that could lead to diagnoses for patients who have remained undiagnosed despite extensive medical evaluation.
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Researchers completed a study with 157 Amish and Mennonite participants to find the genes that cause inherited diseases common in these communities. They also created a family tree database using birth and marriage records to help understand how these genetic diseases run in families and what health problems develop over time.
WHY IT MATTERSThis completed research provides a genetic foundation for understanding rare inherited disorders in Amish and Mennonite populations, which could lead to earlier diagnosis and better treatment options for affected families in these communities.