Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California 92123, USA; Keck Graduate Institute, Claremont Colleges, Claremont, California 91711, USA.
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2). doi: 10.1101/mcs.a006204. Print 2022 Feb.
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.
2022 年初是产前、儿科和成人罕见遗传病诊断和治疗发展的一个转折点——这是本期特刊的主题。在此，我简要回顾了遗传病诊断和治疗两个关键方面的最新进展：教育和公平实施。
