Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease.
Journal
American journal of medical genetics. Part C, Seminars in medical genetics
ISSN: 1552-4876
Titre abrégé: Am J Med Genet C Semin Med Genet
Pays: United States
ID NLM: 101235745
Informations de publication
Date de publication:
03 2023
03 2023
Historique:
revised:
25
10
2022
received:
17
08
2022
accepted:
15
11
2022
pmc-release:
01
03
2024
pubmed:
1
12
2022
medline:
28
3
2023
entrez:
30
11
2022
Statut:
ppublish
Résumé
Development of genetic tests for rare genetic diseases has traditionally focused on individual diseases. Similarly, development of new therapies occurred one disease at a time. With >10,000 rare genetic diseases, this approach is not feasible. Diagnosis of genetic disorders has already transcended old paradigms as whole exome and genome sequencing have allowed expedient interrogation of all relevant genes in a single test. The growth of newborn screening has allowed identification of diseases in presymptomatic babies. Similarly, the ability to develop therapies is rapidly expanding due to technologies that leverage platform technology that address multiple diseases. However, movement from the basic science laboratory to clinical trials is still hampered by a regulatory system rooted in traditional trial design, requiring a fresh assessment of safe ways to obtain approval for new drugs. Ultimately, the number of nucleic acid-based therapies will challenge the ability of clinics focused on rare diseases to deliver them safely with appropriate evaluation and long-term follow-up. This manuscript summarizes discussions arising from a recent National Institutes of Health conference on nucleic acid therapy, with a focus on scaling technologies for diagnosis of rare disorders and provision of therapies across the age and disease spectrum.
Identifiants
pubmed: 36448938
doi: 10.1002/ajmg.c.32016
pmc: PMC10038858
mid: NIHMS1851214
doi:
Substances chimiques
Nucleic Acids
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
77-86Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK109907
Pays : United States
Informations de copyright
© 2022 Wiley Periodicals LLC.
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