Rare disease news

FDA approvals, research breakthroughs, clinical trials, and advocacy updates

Curated and summarized by AI for patients and caregivers

🔍
AllDrug approvalsClinical trialsResearchGrants & fundingAdvocacy & policyPipeline
Show:All newsBreaking onlyImportant & breaking
Date:7 days30 days90 daysAll time

3 articles from the last 90 days matching "genetic testing"

Clinical trialCLINICALTRIALSApr 14

Trial Now Recruiting: Monogenic Kidney Stone - Genetic Testing (NCT03305835)

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.
You can act on thisMonogenic kidney stone diseasePrimary hyperoxaluriaDent diseaseRead →
Clinical trialUNITERAREApr 3

New Recruiting Trial: Culturally Adapting an Intervention to Increase Genetic Testing in African American Cancer Survivors

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.
You can act on thisRead →
Clinical trialCLINICALTRIALSMar 26

Trial Now Recruiting: Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network (NCT02450851)

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.
You can act on thisundiagnosed genetic disordersrare genetic diseasesRead →

Get personalized rare disease news

Follow your conditions to see news about the diseases that matter to you — FDA approvals, trial openings, and research breakthroughs.

Create free account →Browse diseases