Committee Co-Chairs
Susan Ackerman, Ph.D. (University of California, San Diego)
Dr. Ackerman has used mouse genetics to identify novel genes, pathways, and networks involved in neurodevelopment and age-related death of neurons. Dr. Ackerman is the Stephen W. Kuffler Chair of Biology and a professor in the Neurobiology Section in the Division of Biological Sciences at the University of California San Diego; she is also a professor in the department of Cellular and Molecular Medicine and the Vice Dean of Research for the UCSD School of Medicine. She received her Ph.D. from UCLA and was a postdoctoral fellow at University of Illinois Medical School and the Wistar Institute. Prior to her move to UCSD in 2016, Dr. Ackerman was a Professor at The Jackson Laboratory in Bar Harbor, Maine where she was a faculty member for nineteen years. She has been an Investigator of the Howard Hughes Medical Institute since 2005. She is a member of the National Academy of Sciences, the National Academy of Medicine, and the American Academy of Arts and Sciences.
Monica Justice, Ph.D. (The Hospital for Sick Children, University of Toronto)
Dr. Monica Justice is Senior Scientist and Head, Program in Genetics and Genome Biology at the Hospital for Sick Children’s Research Institute in Toronto, Canada. Dr. Justice is a leader in the mouse genetics community, who has played a key role in disease modeling and functional genomics initiatives. Dr. Justice’s research aims to improve human health through genetics by confirming causal associations and finding rational therapeutic pathways for rare diseases. Current work focuses on a modifier screen for the neurological disorder Rett syndrome. Justice is also Professor of Molecular Genetics at The University of Toronto, the Scientific Director of The Centre for Phenogenomics, an Editor for Disease Models and Mechanisms, and a Senior Editor of Current Protocols in Mouse Biology. She was elected a Fellow of the American Association for the Advancement of Science for her seminal contributions to mouse genetics.
Marcy MacDonald, Ph.D. (MGH/Harvard University)
Marcy E. MacDonald, Ph.D. (Molecular Biophysics, University of Toronto) is a Professor of Neurology (Genetics) at Harvard Medical School and Massachusetts General Hospital (Molecular Neurogenetics Unit and Center for Genomic Medicine) and Associate Member of the Broad Institute of MIT and Harvard. Dr. MacDonald’s research has pioneered: linkage disequilibrium and haplotype association as molecular genetic strategies to discover the root causes of several brain disorders, including Huntington’s disease; studies of genetically precise model systems, to understand the molecular, biochemical, biological and functional effects of the disease genes and causative mutations; and, most recently, genome-wide association studies to discover the genes that modify the effects of the unstable CAG trinucleotide repeat that is the root genetic cause of Huntington’s disease.
Trudy MacKay, Ph.D. (Clemson University)
Trudy Mackay received her B.Sc. and M.Sc. from Dalhousie University, Canada and her Ph.D. from the University of Edinburgh. She has been a faculty member at the University of Edinburgh and North Carolina State University. Currently, she is the Director of the Center for Human Genetics, the Self Family Endowed Chair of Human Genetics and Professor of Genetics and Biochemistry at Clemson University. Her laboratory focuses on understanding the genetic and environmental factors affecting variation in quantitative traits, using Drosophila as a translational model system. Her laboratory seeks to identify the genetic loci at which segregating and mutational variation occurs, allelic effects and environmental sensitivities, and the causal molecular variants. She is a Fellow of the American Association for the Advancement of Science, the American Academy of Arts and Sciences and the Royal Society, a member of the US National Academy of Sciences and the American Philosophical Society, the 2016 Wolf Prize Laureate for Agriculture and the 2018 Dawson Prize recipient, Trinity College, Dublin.
Huda Zoghbi, M.D. (Baylor College of Medicine)
Huda Zoghbi is the Ralph D. Feigin Professor of Pediatrics, Neurology, Neuroscience, and Molecular and Human Genetics at Baylor College of Medicine, an Investigator with the Howard Hughes Medical Institute, and the founding Director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital.
Zoghbi’s interests range from neurodevelopment to neurodegeneration. Her discovery (with Harry Orr) that Spinocerebellar Ataxia type 1 is caused by expansion of a polyglutamine tract and her subsequent studies have had profound ramifications since many late-onset neurological disorders involve accumulations of disease-driving proteins. Zoghbi’s work in neurodevelopment led to the discovery of the gene Math1/Atoh1 and showing that it governs the development of several components of the proprioceptive, balance, hearing, vestibular, and breathing pathways. Zoghbi’s group also discovered that mutations in MECP2 cause the postnatal neurological disorder Rett syndrome and revealed that changes in the levels of MeCP2 in either direction underlie various neuropsychiatric features. Zoghbi trained over 100 scientists and physician-scientists; she has been elected to the National Academy of Medicine, the National Academy of Sciences, and the American Academy of Arts and Sciences. Among Dr. Zoghbi’s recent honors are the Shaw Prize in Life Science and Medicine, the Breakthrough Prize in Life Sciences, Canada Gairdner International Prize, and the Brain Prize.
Stephan Zuchner, M.D., Ph.D. (University of Miami)
Stephan Züchner, M.D., Ph.D., M.D. (h.c.), FAAN, is a Professor of Human Genetics and Neurology at the University of Miami Miller School of Medicine. He serves as the Chairman of the Dr. John T. Macdonald Foundation Department of Human Genetics and the Co-Director of the Hussman Institute for Human Genomics. Dr. Züchner’s research interests are focused on identifying genetic variation associated with disease. His lab is internationally renowned for being one of the most successful in identifying several dozen genes for Mendelian disorders, especially axonal neuropathies, ataxia, and spastic paraplegia; and also evaluated risk factors for complex genetic conditions, including Alzheimer disease, Parkinson disease, and obsessive-compulsive disorder. Every day, hundreds of patients around the world get tested and diagnosed for the genes identified in his lab. His group is amongst the pioneering groups that have promoted genome sequencing methods for disease gene identification in humans, mice, worm, and drosophila. By utilizing in house developed software solutions, such as the widely used GENESIS platform, he is currently pursuing large – scale exome and genome analysis in multiple Mendelian neurodegenerative disorders to map their complex genetic architecture, including modifier genes. Finally, therapeutic applications based on genetic approaches are being developed in his group. The first promising clinical trial for a recessive peripheral neuropathy (CMT) treatment developed in principal by his group is expected to commence in 2021.