Brock Schroeder

Mar 26, 2024 | nature.com | Vaidehi Jobanputra |Brock Schroeder |Heidi Rehm |Stacie L. Taylor |Christian R Marshall |Stephen Kingsmore | +1 more

IntroductionEpidemiologic studies estimate that 2–6% of the global population is affected by a rare disease, up to 80% of which are genetic in origin1,2. Diagnostic delays can result in significant burdens including missed opportunities for intervention, unnecessary procedures and treatments, and an emotional toll on families and their care providers3.