Sergio E. Baranzini, PhD

Professor in Residence of Neurology
Graduate Program Membership: BMI

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Sergio E. Baranzini, PhD
Dr. Baranzini’s research focuses on mechanisms underlying susceptibility to common diseases, prediction of therapeutic response, and innovative approaches to drug discovery. Through a combination of wet lab (genetic and immunological approaches) and computational methods, the Baranzini lab investigates combinations of DNA variants that confer susceptibility to diseases in the context of the biological pathways, gene networks, and regulatory influences. In particular, efforts to integrate multiple data domains to understand susceptibility and phenotype heterogeneity (including response to therapeutic drugs) in multiple sclerosis (MS) are underway. In addition, research about the influence of the microbiome in MS susceptibility and expressivity is ongoing.

Ying-hui Fu, PhD

Professor of Neurology
Graduate Program Membership: BMS

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Ying-hui Fu, PhD
Dr. Fu’s research uses human genetics combined with multiple model organisms to investigate molecular mechanisms of human circadian rhythm and sleep behaviors. Over the last 15 years, she and her colleagues identifiedseveral mutations that lead to extreme morning lark phenotype. In addition, they are investigating the genetic basis for human subjects to have shorter sleep duration. Since circadian rhythm and sleep homeostasis are intimately connected with many physiological pathways including metabolism, immune function, and mood regulation, to name but a few, these studies will also shed new light on how sleep schedule and sleep homeostasis can impact on health.

Renata Gallagher, MD, PhD

Associate Professor of Clinical Pediatrics

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Renata Gallagher, MD, PhD
Dr. Gallagher focuses on research related to inborn errors of metabolism. These disorders are due to mutations in genes encoding enzymes or transporters critical for proper function of one or more biochemical pathways.  Her primary research interests are in urea cycle defects and in disorders of neurotransmission.  Current projects include understanding and elucidating the basis of liver injury in urea cycle defects; and optimizing the identification and treatment of pyridoxine-dependent epilepsy, a treatable cause of early infantile epileptic encephalopathy.

Doug Gould, PhD

Associate Professor of Ophthalmology and Anatomy
Graduate Program Memberships:  BMS, Tetrad

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Doug Gould, PhD
Dr. Gould studies a variety of developmental and progressive diseases (ocular dysgenesis, glaucoma, optic nerve hypoplasia, retinal degeneration, cerebrovascular disease, hemorrhagic stroke, cerebral cortical development and muscular dystrophy). The common thread through these seemingly disparate diseases is that all can be caused by mutations in genes encoding basement membrane proteins. Far from being simply ‘structural’ components, basement membrane proteins participate in dynamic ways to influence cell proliferation, migration and differentiation and are important factors in development and disease. To address these problems he employs genetic tools including conditional mutants, an allelic series, modifiers, molecular biology, and human genetics.

Stephen Hauser, MD

Professor and Chair, Department of Neurology

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Stephen Hauser, MD
Dr. Hauser studies genetic susceptibility to multiple sclerosis. For more than 15 years, Dr. Hauser has led the Multiple Sclerosis Genetics Group, a consortium of investigators at multiple sites across the US. He collaborated on the formation of an international MS consortium and is now the leader of a large consortium project on the genetics of MS. His contributions include efforts to identify informative MS families for linkage studies, collaboration on linkage studies and linkage disequilibrium studies to map genes, and finally larger scale association studies, both candidate genes and genome-wide, to identify MS susceptibility loci.

Jill Hollenbach, PhD, MPH

Assistant Professor of Neurology

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Jill Hollenbach, PhD, MPH
Dr. Hollenbach’s research focuses on analysis of the human leukocyte antigen (HLA) and killer immunoglobulin-like receptor (KIR) immunogenetic systems. Beside their critical role in transplantation, over 100 infectious, autoimmune, cancer and pharmacological diseases are associated with variation of HLA and KIR. Her work spans the population genetics, evolution, and influence on health of these genes, with emphasis on their role in neurological disease. Her lab also develops software tools specifically designed for these data. Other projects include examination of alternative measures of self-reported ancestry with respect to genetics, and the relationship between patient-reported and clinician-defined disability in multiple sclerosis.

Helen Kim, PhD

Associate Professor of Anesthesia & Perioperative Care and of Epidemiology & Biostatistics

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Helen Kim, PhD
Dr. Kim focuses on identifying genetic factors that predispose individuals to stroke and outcomes after stroke. Her group studies families or individuals affected with cerebrovascular malformations, including arteriovenous malformations, cerebral cavernous malformations, intracranial aneurysms, and hereditary hemorrhagic telangiectasia. Current genetic epidemiology projects use whole genome SNP and expression arrays, and next-gen sequencing to identify genetic variation associated with disease susceptibility or progression. The long-term objective is to improve patient outcomes by identifying gene targets for therapy and factors to facilitate risk stratification of patients most amenable for clinical intervention.

Yun-Fai Chris Lau, PhD

Professor of Medicine
Research Career Scientist, VA Medical Center, San Francisco

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Yun-Fai Chris Lau, PhD
Dr. Lau is interested in understanding the functions of the Y chromosome genes and their homologues in human development, physiology and disease. Recent efforts are focused on the gene regulatory hierarchy in mammalian sex determination and differentiation, the contrasting roles of a Y-located oncogene and its X-homologue tumor suppressor in human oncogenesis, and the contributions of the Y chromosome genes in sexual dimorphisms in human diseases, such as autism, Hirschsprung disease, and hepatocellular carcinoma with high male preference in the respective patient populations. Various advanced molecular genetic, genomic, proteomic, and transgenic mouse modeling strategies are utilized in these studies.

Robert Nussbaum, MD

Holly Smith Professor of Science and Medicine
Chief, Division of Genomic Medicine, Department of Medicine
Graduate Program Membership:  BMS

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Robert Nussbaum, MD
Dr. Nussbaum studies genetic contributions to developmental, neurodegenerative and cardiovascular disorders. Two areas of concentration are Lowe syndrome and Parkinson disease. Dr. Nussbaum’s group identified the defective gene that causes Lowe syndrome and pioneered the delivery of genetic services and counseling, including carrier testing, to families of Lowe syndrome patients. In his Parkinson disease work, he identified a missense mutation and established the alpha-synuclein gene (SNCA) as a cause of hereditary, early onset Parkinson Disease. His group also focuses on mouse models, and has engineered several transgenic mice expressing mutant human alpha-synuclein that show a severe, rapid neurological deterioration.

Jorge Oksenberg, PhD

G.A. Zimmermann Endowed Chair in Neurology
Professor of Neurology

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Jorge Oksenberg, PhD
Dr. Oksenberg’s research is focused on human immunogenetics and autoimmunity, and he is a leading investigator in the International Multiple Sclerosis Genetics Consortium. The availability of sensitive and high-capacity methods for analysis of gene variation and expression, combined with the implementation of algorithms that predict behaviors in complex biological circuits, provides an outstanding opportunity to facilitate progress in the integration of multiple data sources and functional interpretation of physiological and laboratory results. His goal is to illuminate fully the genetics of autoimmune demyelination.

Ludmila Pawlikowska, PhD

Associate Professor of Anesthesia

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Ludmila Pawlikowska, PhD
Dr. Pawlikowska studies genomics of complex human phenotypes, including stroke, longevity and cardiovascular phenotypes. Her main focus is genetics of vascular malformations, including brain AVMs, an important cause of stroke in young adults, and Hereditary Hemorrhagic Telangiectasia. Approaches include genome-wide association studies, screening for rare variants and investigation of somatic variation. A second focus is genetics of human aging and longevity, via the Longevity Consortium; current work includes transcriptome sequencing to correlate gene expression with varying lifespan and stress resistance in bird species. Other projects include admixture mapping of cardiovascular traits and genetic variation in Chronic Obstructive Pulmonary Disease.

Louis Ptáček, MD, PhD

John C. Coleman Distinguished Professorship in Neurodegenerative Diseases
Professor of Neurology
Graduate Program Membership:  BMS, Neuroscience, Tetrad

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Louis Ptacek, MD, PhD
Dr. Ptáček focuses on study of families with genetic phenotypes aiming to map and clone genes and mutations. In some cases, his laboratory has identified and characterized novel human phenotypes. They’ve localized and cloned genes for many episodic phenotypes, neurodegenerative disorders, and human circadian variants. Assorted techniques are then applied to study the encoded proteins to examine functional consequences of mutations and to link these with understanding of disease pathogenesis. They also generate animal models of human mutations in mice and Drosophila. Such work translates from patients to biological understanding and ultimately, helps in diagnosis and treatment of human diseases.

Yin Shen, PhD

Assistant Professor of Neurology
Graduate Program Membership:  BMS

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Yin Shen, PhD
Dr. Shen studies the fundamental mechanisms of transcriptional control underlying cellular function. Her research utilizes human pluripotent stem cells to model development and complex diseases as well as innovative genomic and genetic tools to investigate how regulatory elements affect gene expression. Her lab focuses on elucidating the causal relationship between genetic and epigenetic variations at regulatory sequences, e.g. enhancers and neurodevelopment and neurological diseases, and how these factors interplay to control gene regulation in mammalian cells.

Raymond White, PhD

Rudi Schmid Distinguished Professor in Neurology

Raymond White, PhD
Dr. White is a pioneer in the development of the molecular tools for the construction of a map of genetic markers for the human genome. He and his laboratory played key roles in the identification of numerous genes including those for neurofibromatosis type I and familial polyposis, an inherited form of colon cancer. More recently, he has become interested in the genetics of behavioral disorders, specifically, the genetics of alcoholism and alcohol abuse. Identification of the genetic components is an important goal; clarifying the genetics that will reveal underlying molecular mechanisms and proteins for the development of therapeutic interventions.