{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T23:27:24Z","timestamp":1768346844039,"version":"3.49.0"},"reference-count":24,"publisher":"Informa UK Limited","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Neurogenetic conditions (NGC; e.g., fragile X, Angelman, Prader-Willi syndromes) represent the cause for intellectual or developmental disabilities in up to 60% of cases. With expanded diagnostic options and an increasing focus on the development of gene therapies comes the potential of improved quality of life for individuals with NGCs and their families. However, these emerging initiatives also bring new challenges and considerations for NGC researchers and clinicians, including considerations for supporting caregivers and assuring outcome measures for clinical trials adequately reflect the lived experiences of people with NGCs. This paper summarizes the advances and current and future challenges of research and clinical service provision for people with NGCs and their caregivers.<\/jats:p>","DOI":"10.1352\/1944-7558-129.2.110","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T07:15:16Z","timestamp":1709018116000},"page":"110-115","source":"Crossref","is-referenced-by-count":1,"title":["The Multiple Odysseys in Research and Clinical Care for Neurogenetic Conditions"],"prefix":"10.1080","volume":"129","author":[{"given":"Anne C.","family":"Wheeler","sequence":"first","affiliation":[{"name":"Anne C. Wheeler, Genomics, Ethics, and Translational Research Program, RTI International"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"301","published-online":{"date-parts":[[2024,2,27]]},"reference":[{"issue":"(6)","key":"2024022712151157200_i1944-7558-129-2-110-b01","doi-asserted-by":"crossref","first-page":"4732","DOI":"10.3390\/ijerph20064732","article-title":"Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges","volume":"20","author":"Adachi,","year":"(2023)","journal-title":"International journal of environmental research and public health"},{"issue":"(1)","key":"2024022712151157200_i1944-7558-129-2-110-b02","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1186\/s12887-021-03035-x","article-title":"Preparing newborn screening for the future: A collaborative stakeholder engagement exploring challenges and opportunities to modernizing the newborn screening 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