Ying-Hui Fu (Chinese: 傅嫈惠) is a Taiwanese-American biologist and human geneticist who has made important contributions to understanding the genetics of many neurological disorders.
Together, these discoveries characterized the molecular basis of genetic “anticipation,” the phenomenon of worsening severity in subsequent generations, as being due to unstable, expanded trinucleotide repeats.
After leaving Millennium Pharmaceutical, from 1995- August 1997 Fu worked for Darwin Molecular Corporation for two years and took part in the search for mutations responsible for premature aging (Werner syndrome) and early onset Alzheimer's disease (presenilin 2).
Fu was then recruited to the University of California, San Francisco in 2002, where she is a co-principal investigator (PI) with her collaborator, Louis Ptacek.
[8] In 2001, Fu and her collaborator's labs published a paper that explained a phenotype of extremely early risers in humans called Familial Advanced Sleep Phase Syndrome (FASPS).
The lab studied the genomes of people with this trait and found a point mutation in the PER2 gene that likely causes the behavioral phenotype.
When Fu did her post-doctoral work in Baylor College, she was part of the team that was positional cloning the Fragile-X syndrome gene.
There, she studied the trinucleotide repeat sequence expansions, the mutations responsible for the Fragile-X Syndrome, and their correlation with disease severity and age of onset.
Adult-onset autosomal dominant leukodystrophy (ADLD) is a neurological disorder that is associated with widespread myelin loss in the central nervous system.
Fu's lab traced the phenotype back to individuals with an extra copy of nuclear laminar protein lamin B1 making ADLD one of the diseases named “laminopathies”.