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Defining Rare Disorders: A Profile of Judith Hall
Defining Rare Disorders: A Profile of Judith Hall
By bringing genetics into clinical medicine, the University of British Columbia medical geneticist helped to identify the gene mutations responsible for many rare diseases.
By bringing genetics into clinical medicine, the University of British Columbia medical geneticist helped to identify the gene mutations responsible for many rare diseases.
newborn, genetics & genomics
Babies’ Genomes Identify Risks Overlooked by Newborn Screens
Abby Olena, PhD | Jan 3, 2019 | 4 min read
A trial called BabySeq, in which researchers performed genomic sequencing on 159 newborns, identified children susceptible to diseases that regular screening doesn’t look for.