Clinical trialCLINICALTRIALSApr 14
Researchers at Mayo Clinic are looking for 6,000 people with rare kidney stone diseases caused by a single gene mutation to join a study. The study will identify which specific genes and genetic changes cause these kidney stones. By understanding the genetics behind these stones, scientists hope to develop better treatments in the future.
WHY IT MATTERSIf you have a rare monogenic kidney stone disease, this trial could help identify the genetic cause of your condition and accelerate development of targeted treatments — and you can enroll now.
Clinical trialUNITERAREApr 3
Researchers are looking for African American cancer survivors to join a study about genetic testing. The study will test a new approach designed specifically for African American communities to help more people get tested for inherited cancer genes. Genetic testing can show if someone has genes that increase cancer risk, which helps with prevention and treatment planning.
WHY IT MATTERSThis trial addresses a critical gap: African American cancer survivors are significantly underrepresented in genetic testing programs, meaning many miss opportunities for personalized cancer prevention and family screening.
ResearchPUBMEDApr 1
Researchers tested whether people could get genetic testing (genome sequencing) without always needing to see a genetics specialist first. They studied 313 people of all ages who had unexplained symptoms and could refer themselves or be referred by any doctor. The study found that people who referred themselves were just as likely to get a diagnosis as those referred by specialists. This suggests a new way to make genetic testing available to more people while still having genetics experts review the results.
WHY IT MATTERSIf this hybrid model works, patients with rare diseases could access genome sequencing faster and more easily without waiting for a genetics specialist appointment, potentially shortening the diagnostic odyssey that many rare disease patients experience.
PolicyPUBMEDMar 26
France is creating a new type of healthcare worker called a Genomic Pathway Manager to help doctors order genetic tests for patients with rare diseases and cancer. These managers will make it easier for patients to get genetic testing by organizing the process and helping doctors understand when and how to use these tests. The goal is to make genetic testing available to more people across France starting in 2025.
WHY IT MATTERSIf you have a rare disease in France, this new system could help your doctor identify your condition faster through genetic testing, potentially leading to earlier diagnosis and treatment options.
Clinical trialCLINICALTRIALSMar 26
Researchers are looking for 20,000 people with rare diseases that doctors haven't been able to diagnose yet. Many patients spend years going to different doctors and getting repeated tests without finding answers. This study, run by the National Human Genome Research Institute, aims to help solve medical mysteries by using genetic testing and careful evaluation to figure out what's causing people's symptoms.
WHY IT MATTERSIf you or a family member has spent years seeking a diagnosis without answers, this large national study offers free genetic evaluation and expert medical review specifically designed to identify undiagnosed rare diseases.