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. 2022 Mar 24;8(2):a006204.
doi: 10.1101/mcs.a006204. Print 2022 Feb.

2022: a pivotal year for diagnosis and treatment of rare genetic diseases

Stephen F Kingsmore  1
Affiliations

2022: a pivotal year for diagnosis and treatment of rare genetic diseases

Stephen F Kingsmore. Cold Spring Harb Mol Case Stud. .

Abstract

The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals-the theme of this special issue. Here I briefly review recent developments in two pivotal aspects of genetic disease diagnostics and treatments: education and equitable implementation.

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