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2 articles from the last 30 days matching "genetic disease"

Clinical trialCLINICALTRIALSApr 14

Trial Now Recruiting: Evaluation of Socio-professional Inclusion for Young Adults Aged 15-25 Living With a Rare Genetic Disability (NCT07527624)

Researchers are looking for young adults ages 15-25 with rare genetic disabilities to join a study about getting jobs and education. The study will follow 300 participants and examine the challenges these young people face when trying to go to school, get internships, or find work. Many young people with rare genetic diseases struggle with these opportunities because of their condition and lack of support.

WHY IT MATTERSThis trial directly addresses employment and education barriers that young adults with rare genetic disabilities face — areas where they typically have the fewest resources and support.
→ You can act on thisRead →
Clinical trialCLINICALTRIALSMar 27

Trial Now Recruiting: A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel-based Solo Genome Sequencing in France (NCT06875089)

Researchers in France are recruiting 5,000 newborns to test a new way of screening for rare diseases using genome sequencing—a complete reading of a baby's DNA. Instead of the current blood spot tests that check for only a few dozen conditions, this study will see if reading a baby's entire genome can safely and effectively find many more rare genetic diseases at birth. This is one of the first major studies in Europe to test this approach.

WHY IT MATTERSThis trial could expand newborn screening in France to detect dozens of additional rare genetic diseases at birth, potentially allowing earlier treatment and better health outcomes for babies with conditions that currently go undiagnosed until symptoms appear.
→ You can act on thisRare genetic diseases detectable at birthConditions currently missed by standard newborn screeningRead →

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