Genetics Faculty

Richard Lifton

Chairman

Sterling Professor of Genetics and Professor of Medicine (Nephrology)
Chair, Department of Genetics
Investigator, Howard Hughes Medical Institute

Research Interests:Molecular genetics of common human diseases

Clinical Interests:Genetics

Allen Bale

Professor of Genetics
Director, DNA Diagnostic Lab

Research Interests:Molecular Mechanisms of Cancer; Predisposition and Developmental Defects; DNA Diagnostics; Birth Defects; Cancer; Fanconi; Genetics; Hedgehog; Multiple Endocrine Neoplasia; Patched; Skin Cancer; Tumor Suppressor

Clinical Interests:Cancer genetics; general genetics

Susan Baserga

Professor of Molecular Biophysics and Biochemistry, of Genetics and of Therapeutic Radiology

Research Interests:Ribosome biogenesis; rRNA processing; U3 RNP structure and function; RNA helicases; Polymerase I transcription and processing

William Breg, Jr

Professor Emeritus of Genetics

Martina Brueckner

Associate Professor of Pediatrics (Cardiology) and of Genetics

Research Interests:Development of left-right asymmetry; Heterotaxy syndrome; Kartagener syndrome; Situs inversus

Clinical Interests:General pediatric cardiology; genetics of congenital heart disease

Judy Cho

Henry J. and Joan W. Binder Professor of Medicine (Digestive Diseases) and Professor of Genetics and of Pediatrics (Gastroenterology)
Director, Inflammatory Bowel Disease Center

Research Interests:Inflammatory Bowel Disease (IBD); identifying genetic variation that affects susceptibility to and expression of Inflammatory Bowel Disease (IBD)

Clinical Interests:Inflammatory Bowel Disease (IBD)

Lynn Cooley

C. N. H. Long Professor of Genetics and Professor of Cell Biology and of Molecular, Cellular, and Developmental Biology
Director, Combined Program in the Biological & Biomedical Sciences

Research Interests:Molecular Genetics of Drosophila Oogenesis; Actin Cytoskeleton Regulation; Drosophila; Oogenesis; Ring Canal; Ovarian Muscle Function

Chris Cotsapas

Assistant Professor of Neurology and of Genetics

Research Interests:We use genetics, computational biology and cell-based approaches to discover and understand the mechanisms that give rise to disease. We are particularly interested in disorders of the immune system and brain.

Daniel DiMaio

Waldemar Von Zedtwitz Professor of Genetics and Professor of Molecular Biophysics and Biochemistry and of Therapeutic Radiology
Scientific Director, Yale Cancer Center
Deputy Director, Yale Cancer Center

Research Interests:Molecular Biology of Tumor Viruses; Mechanisms of Viral Carcinogenesis; Molecular Basis of Cell Growth Regulation and Senescence; Manipulating Cells and Viruses with Artificial Transmembrane Proteins; Oncogenes; Senescence ; Signal Transduction; Trans-membrane Proteins; Tumor Suppressor Genes; Virology; Virus

Wayne Fenton

Research Scientist in Genetics

Research Interests:Protein folding; chaperonins; protein misfolding; amyotrophic lateral sclerosis; Lou Gehrig's disease

Patrick Gallagher

Professor of Pediatrics (Neonatology), of Genetics and of Pathology
Director, Yale Center for Blood Disorders
Director, Expression and Genomics Core, Yale Center of Excellence in Molecular Hematology

Research Interests:Neonatal hematology; Erythropoiesis; Inherited abnormalities of the erythrocyte including metabolic, membrane, and hemoglobin disorders; Sickle cell disease; Hereditary spherocytosis; Elliptocytosis; Pyropoikilocytosis; Stomatocytosis

Clinical Interests:Neonatal medicine; Respiratory and circulatory failure; Shock; Prematurity; Newborn hematology and blood problems; Neonatal infectious disease; Genetic disorders

Joel Gelernter

Foundations Fund Professor of Psychiatry and Professor of Genetics and of Neurobiology
Director, Division of Human Genetics (Psychiatry)

Research Interests:Complex trait genetics; Psychiatric genetics; Population genetics; Substance dependence; Gene mapping

Antonio Giraldez

Associate Professor of Genetics
Member of the Yale Cancer Center
Member of the Stem Cell Center
Director of Graduate Studies

Research Interests:Non-coding RNAs, Post-transcriptional regulation; microRNAs; Developmental Biology; Gene regulatory networks; Systems Biology; Zebrafish

Peter Glazer, MD, PhD

Robert E. Hunter Professor of Therapeutic Radiology and Professor of Genetics
Chair, Department of Therapeutic Radiology

Research Interests:Gene targeting and gene therapy; Genetic instability in cancer; Mutagenesis; DNA repair; Radiation resistance; Cellular responses to radiation

Clinical Interests:General radiation therapy; breast cancer; prostate cancer; lung cancer

Valentina Greco

Assistant Professor of Genetics and of Dermatology

Research Interests:Organ regeneration in vertebrate systems; Stem cells; Stem cell niche organization; cancer

Jeffrey Gruen

Professor of Pediatrics (Neonatology) and of Genetics

Research Interests:Complex inherited traits including bladder exstrophy; Genetic susceptibility to newborn disorders; Genetics of reading disability (dyslexia)

Clinical Interests:Neonatal medicine; Inherited diseases; Neonatal hemochromatosis; newborn intensive care; dyslexia

Murat Gunel

Nixdorff-German Professor of Neurosurgery and Professor of Genetics and of Neurobiology
Co-Director, Yale Program on Neurogenetics
Director, Neurovascular Surgery

Research Interests:Molecular genetics and biology of brain aneurysms and cavernous malformations; molecular genetics of brain development

Clinical Interests:Brain aneurysms; arterio-venous malformations (AVM); cavernous malformations; occlusive vascular disorders, carotid surgery; stereotactic radiosurgery; neurovascular intensive care unit (ICU); stroke

Marc Hammarlund

Assistant Professor of Genetics

Research Interests:Axon regeneration and degeneration; Neuronal plasticity; Femtosecond laser surgery; C. elegans neurobiology

Arthur Horwich

Sterling Professor of Genetics and Professor of Pediatrics
and Investigator HHMI

Research Interests:Chaperones in protein folding; ALS (Lou Gehrig's Disease)

Clinical Interests:Inborn errors of metabolism; Inherited neurodegenerative disease

Andrew Hudson

Research Scientist in Genetics

Natalia Ivanova

Assistant Professor of Genetics

Research Interests:Embryonic and somatic stem cells; Vertebrate development; Functional genomics; Systems biology

Mustafa Khokha

Associate Professor of Pediatrics (Critical Care) and of Genetics

Research Interests:Establishment of vertebrate body plan; Embryonic patterning and gene regulatory networks; Xenopus (frog) genetics

Clinical Interests:Genetics of congenital malformations, especially those that lead to critical illness

Judith Kidd

Research Interests:Human population genetics; forensic genetics

Kenneth Kidd

Professor of Genetics, of Ecology and Evolutionary Biology and of Psychiatry

Research Interests:Complex Human Disorders; Neuropsychiatric Disorders; Human Population ; Genetics; Human Evolution

Tae Hoon Kim

Assistant Professor of Genetics
Member, Yale Cancer Center
Member, Yale Stem Cell Center

Research Interests:Transcriptional Regulatory Elements and Chromatin Structure; Expression of the Cancer Genome; Epigenomics

Peining Li

Associate Professor of Genetics

Research Interests:Cytogenetic and genomic analysis; Dissection of genetic mechanisms for growth regulation, mental development, and cancer progression

Clinical Interests:Cytogenetics

Janghoo Lim

Assistant Professor of Genetics

Research Interests:Mechanisms of neural development, neurological disorders, and neurodegenerative diseases

Haifan Lin

Professor of Cell Biology and of Genetics
Director, Yale Stem Cell Center

Research Interests:RNA-mediated epigenetic programming and post-transcriptional regulation of stem cells

Clinical Interests:Stem cell research

Jun Lu

Assistant Professor of Genetics

Research Interests:Non-coding RNAs in blood stem cell differentiation and malignancies; MicroRNA-mediated control of embryonic stem cell fates; MicroRNA mechanisms

Maurice Mahoney

Professor of Genetics, of Obstetrics, Gynecology, and Reproductive Sciences and of Pediatrics
Co-Chair, Embryonic Stem Cell Research Oversight Committee
Executive Director, Human Investigation Committee

Research Interests:Clinical Genetics; Diagnosis and Therapy of Human Fetal Disease; Research Ethics as Applied to Human Subjects

Clinical Interests:Prenatal Diagnosis; Clinical Genetics

Shrikant Mane

Senior Research Scientist in Genetics
Co-Director, MBB Keck Biotech Services
Director, Yale Center for Genome Analysis

Arya Mani

Associate Professor of Medicine (Cardiology) and of Genetics
Director, Cardiovascular Genetics Program

Research Interests:Identification of cardiovascular disorders that have strong familial pattern

Clinical Interests:General cardiology; adult familial cardiovascular disorders; congenital heart disease; coronary Computed Tomography (CT); arrythmia; cardiac echocardiography; cardiac nuclear stress testing; cardiovascular stress testing; fainting; nuclear cardiography; tachycardias; transesophageal echocardiography; CT angiography

Ellen Matloff

Research Scientist in Genetics
Director, Cancer Genetic Counseling

Research Interests:BRCA1; BRCA2; HNPCC; hereditary cancer; genetic patents; genetic counseling; genetic testing; sexuality and cancer; providers of genetic counseling

Clinical Interests:BRCA1; BRCA2; hereditary breast cancer; breast cancer; hereditary ovarian cancer; ovarian cancer; HNPCC; Lynch Syndrome; MSH2; MLH1; MSH6; hereditary colon cancer; FAP; Cowden syndrome; rare cancer syndromes; hereditary cancer syndromes; hereditary thyroid cancer; hereditary melanoma; hereditary pancreatic cancer; hereditary gastric cancer/lobular breast cancer; CDH1; retinoblastoma.

James McGrath

Research Scientist in Comparative Medicine, in Genetics and in Pediatrics

Research Interests:Developmental Genetics; Genetic Imprinting; Embryogenesis; Spermatogenesis

Clinical Interests:Clinical Genetics; Dysmorphology; Cardiac Genetics

Michael Nitabach

Associate Professor of Cellular and Molecular Physiology and of Genetics

Research Interests:Neurophysiology; Molecular genetics; Systems Physiology; Animal Behavior

James Noonan

Assistant Professor of Genetics
Member, Kavli Institute for Neuroscience
Member, Yale Cancer Center

Research Interests:Human Evolution; Evolutionary Dynamics of Gene Regulation; Synthetic Biology; Applications of Ultra-High Throughput Sequencing Technologies; Comparative and Functional Genomics in Vertebrates

In-Hyun Park

Assistant Professor of Genetics
Yale Stem Cell Center

Research Interests:Reprogramming; iPS cells; neurodevelopment; epigenetics

Charles Radding

Professor Emeritus of Genetics

Valerie Reinke

Associate Professor of Genetics

Research Interests:Functional genomic analysis of global gene expression mechanisms; C. elegans germline development; germline stem cells

G Shirleen Roeder

Eugene Higgins Professor Emeritus of Molecular, Cellular, and Developmental Biology and Professor of Genetics
Investigator, Howard Hughes Medical Institute

Research Interests:Meiotic Chromosome Behavior; Cell Cycle Checkpoints; Meiotic Recombination; Synaptonemal Complex

Margretta Seashore

Professor of Genetics, of Laboratory Medicine and of Nursing
Interim Director, Biochemical Disease Detection Laboratory

Research Interests:Clinical Genetics; Inborn errors of metabolism, diagnosis and treatment

Clinical Interests:Genetic disorders; metabolic disorders; urea cycle disorders; organic acid and amino acid disorders in adults and children; mitochondrial disorders; newborn screening; genetic causes of developmental disability; inherited cardiomyopathies in adults and children.

Gerald Shadel

Professor of Pathology and of Genetics
Director, Pathology Research

Research Interests:Mitochondria; Mitochondrial Genetics and Biogenesis; Mitochondrial Dysfunction in Human Disease and Aging; Mechanisms of mtDNA Transcription and Mitochondrial Translation; Signaling Pathways that Sense and Control Mitochondrial Function; Cancer; Immune System Signaling

Carolyn Slayman

Sterling Professor of Genetics and Professor of Cellular and Molecular Physiology
Deputy Dean for Academic & Scientific Affairs

Research Interests:Genetics of Ion Transport

Stefan Somlo

C. N. H. Long Professor of Medicine (Nephrology) and Professor of Genetics
Chief, Section of Nephrology

Research Interests:Genetic kidney and liver disease; Cilia function in tissue homeostasis; Polycystin function

Clinical Interests:Polycystic kidney disease; inherited or familial kidney disease; genetic aspects of kidney disease; polycystic liver disease

Matthew State

Donald J. Cohen Professor (Adjunct) in the Child Study Center and Professor of Genetics and of Psychiatry
Co-Director, Yale Program on Neurogenetics
Deputy Chairman for Research, Department of Psychiatry

Research Interests:Genetic mechanisms; neuropsychiatric disorders of childhood

Clinical Interests:Child and adolescent psychiatry; genetic syndromes; Tourette's syndrome; Obsessive/Compulsive Disorder (OCD); developmental delay; mental retardation

Zhaoxia Sun

Associate Professor of Genetics

Research Interests:Zebrafish genetics; Cilium; Kidney development; Polycystic kidney disease (PKD); Ciliopathy

Joann Sweasy

Professor of Therapeutic Radiology and of Genetics
Vice-Chair for Basic Research

Research Interests:Genome Stability; Mutagenesis; DNA Replication; DNA Repair; Carcinogenesis

Peter Tattersall

Professor of Laboratory Medicine and of Genetics

Research Interests:Biochemistry; Genetics; Parvoviruses; DNA replication; Gene therapy; Oncolytic virus; Vaccines; Vectors; Viral replication and vectors

Scott Weatherbee

Assistant Professor of Genetics

Research Interests:Limb development; Developmental genetics; Organogenesis; Mouse genetics; Signaling pathways; Embryogenesis

Sherman Weissman

Sterling Professor of Genetics

Research Interests:Globin and Histocompatibility Gene Structure and Function; Genome wide mapping of gene activity and chromosome structure in man; Transcription Factors; Lymphocyte and myeloid Transcription Networks; Stem Cells; Cell Senescence; Methods for Molecular Genetics

Andrew Xiao

Assistant Professor of Genetics

Research Interests:Chromatin biology: histone variants, modifications and chromatin remodeling complexes; Cellular reprogramming (iPS) and stem cell biology; Mammalian neural crest cell; Mammalian DNA damage response

Tian Xu

Professor of Genetics
Vice Chairman of Genetics
Investigator, Howard Hughes Medical Institute

Research Interests:Genetic methodology; Cancer biology; Food and metabolism; Developmental mechanisms

Hui Zhang

Assistant Professor of Genetics and of Pediatrics

Clinical Interests:congenital malformations; dysmorphology; developmental delays; mental retardations; autism; craniofacial anomalies; hearing loss; ophthalmological disorders; CNS abnormalities.

Hongyu Zhao

Ira V. Hiscock Professor of Public Health (Biostatistics) and Professor of Genetics and of Statistics

Research Interests:statistical genomics; computational biology; genetic epidemiology; genome wide association studies; complex diseases; risk prediction; high dimensional data; dimension reduction; network models; graphical models; bioinformatics; next generation sequencing analysis; cancer genomics; epigenetics; herbal medicine; microbiome; proteomics