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傅莹惠

  • 姓名: 傅莹惠
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    Dr. Fu performed doctoral training and first post-doctoral fellowship at The Ohio State University. During her training, she cloned numerous genes in regulatory pathways of sulfur and nitrogen metabolisms in the filamentous fungus Neurospora Crassa. After identifying these genes, she went on to dissect the regulatory circuits of gene expression for both of these pathways using genetic and biochemical approaches.

    Her entrée to Human Genetics was as a post-doc in the laboratory of Thomas Caskey at Baylor. During this time, she showed that variation of a CGG repeat in the Fragile X gene resulted in genetic instability and the phenomenon of anticipation. She then went on to clone the Myotonic Dystrophy gene and to show that trinucleotide repeat instability was responsible for anticipation in that disease. The discovery that trinucleotide repeat expansions are the molecular mechanism of anticipation established a new field in the genetics and pathogenesis of neurodegeneration that ultimately facilitated cloning of genes for many other diseases such as Huntington’s Disease and numerous Spinocerebellar Ataxias (SCAs).

       She was then recruited to Millennium Pharmaceuticals and subsequently, to Darwin Molecular Corporation. While at Darwin, she led the team that sequenced a 1.6 megabase region containing the Werner Syndrome locus and identified mutations that cause this form of premature aging. In addition, her team identified mutations that implicated the Presenillin 2 gene in Alzheimer’s disease.

    In 1997, Dr. Fu returned to Academia as an Associate Professor of Neurobiology and Anatomy at the University of Utah. There, she re-established her own research program in Neurogenetics. She began by studying families with hereditary demyelination in order to understand the cause of these Multiple Sclerosis-like phenotypes. One of the demyelinating disorders that she studies, Autsomal Dominant Leukodystrophy (ADLD), mimics the chronic-progressive form of MS. In 2006, her lab reported a genomic duplication leading to ADLD. This research has also brought her into studying the role of non-coding RNAs in the maintenance of healthy myelin. Clues about myelin biology from rare monogenic disorders of myelin may provide opportunities for novel approaches toward understanding and treating MS.

    Dr. Fu is also interested in a Mendelian behavioral phenotype of early morning awakening (Familial Advanced Sleep Phase Syndrome—FASPS). Together with collaborator, Louis Ptacek, they led the team that cloned genes causing FASPS in some families. Recently, her lab described a mutation that leads to a natural short sleep behavior in human hence expanded her interest into studying the molecular mechanism of sleep homeostasis. In both circadian and sleep studies, she has been able to find mutations in human and create models in mouse and fly in order to further characterize the molecular mechanisms. By using this multi-organisms approach (human, mouse, and fruit fly), her research in this area has opened the doorways for scientific communities to begin probing the mechanisms of human circadian rhythm and sleep behaviors. Her pioneer work in this area will bring a new understanding of how genetics can impact our daily life and behavior patterns.