Genetics Faculty

Lifton, Richard P


Research Interests:Molecular genetics of common human diseases

Clinical Interests:Genetics

DiMaio, Daniel C.

Vice Chairman

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

Xu, Tian

Vice Chairman

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

Bale, Allen Everett

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

Baserga, Susan J

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

Bilguvar, Kaya

Research Interests:Genetics of developmental nervous system disorders, intracranial aneurysms and brain tumors

Brueckner, Martina

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

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

Choate, Keith Adam

Research Interests:Human Genetics; Genodermatoses; Gene Discovery; Genetic Mosaicism; Disorders of keratinization; Mosaic skin disorders; Stem cell biology; Developmental biology; Epidermal differentiation; Sequencing technology

Clinical Interests:inflammatory disorders; autoimmune disorders; psoriasis; acne; genetic skin disorders; ichthyosis, epidermal nevi; skin cancer; melanoma; basal cell carcinoma; squamous cell carcinoma

Cooley, Lynn

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

Cotsapas, Chris

Research Interests:Genetics; Computational biology; Cell-based approaches to discover and understand the mechanisms that give rise to disease; Disorders of the immune system and brain

Fenton, Wayne Alexander

Research Interests:Protein folding; Chaperonins; Protein misfolding; Amyotrophic lateral sclerosis; Lou Gehrig's disease

Gallagher, Patrick G

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

Gelernter, Joel

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

Giraldez, Antonio J.

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

Glazer, Peter M.

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

Greco, Valentina

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

Gruen, Jeffrey Robert

Research Interests:Genetics of communication disorders and learning disabilities, dyslexia, and language impairment (LI); Biological underpinnings of dyslexia, language impairment, learning disabilities, and communication disorders; Dyslexia; Language impairment; learning disabilities; communication disorders

Clinical Interests:Genetics of reading and language acquisition, dyslexia (reading disability), and language impairment. Neonatal/Perinatal Medicine; Inherited diseases; Neonatal hemochromatosis; Newborn Intensive Care.

Gunel, Murat

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

Hammarlund, Marc

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

Horwich, Arthur L

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

Clinical Interests:Inborn errors of metabolism; Inherited neurodegenerative disease

Ivanova, Natalia B.

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

Khokha, Mustafa Kezar

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

Kidd, Judith R.

Research Interests:Human population genetics; forensic genetics

Kidd, Kenneth Kay

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

Li, Peining

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

Clinical Interests:Cytogenetics

Lim, Janghoo

Research Interests:Mechanisms of neural development; Neurological disorders; Neurodegenerative diseases

Lin, Haifan

Research Interests:Stem cell RNA-mediated epigenetic programming, post-transcriptional regulation

Clinical Interests:Stem cell research

Lu, Jun

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

Mahoney, Maurice Jeremiah

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

Clinical Interests:Prenatal Diagnosis; Clinical Genetics

Mani, Arya

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

Clinical Interests:Cardiovascular Genetics, Genetics of inherited cardiac arrhythmia, Genetics of sudden cardiac death, hypertrophic cardiomyopathy, dilated cardiomyopathy, thoracic aneurysms, inherited valvular disease, General cardiology; adult familial cardiovascular disorders; congenital heart disease; coronary Computed Tomography (CT); arrythmia; cardiac echocardiography; cardiac nuclear stress testing; cardiovascular stress testing; fainting; tachycardias; transesophageal echocardiography

McGrath, James Michael

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

Clinical Interests:Clinical Genetics; Dysmorphology; Cardiac Genetics

Nitabach, Michael N

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

Noonan, James

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

Pakstis, Andrew J

Research Interests:Genetic epidemiology; Behavior genetics

Pan, Xinghua Victor

Research Interests:Single Cell Functional Genomics: My group focuses on the development and application of cutting edge technologies for genome-wide analysis of single cells and low numbers of cells for the functional genomic elements, in aspects of genomics, epigenomics and transcriptomics, with the support of Dr. Sherman Weissman. We began with whole genome amplification technology, WPA (PNAS 2008), which was invented on the basis of my experience in development of REPLIg kit (at Molecular Staging Inc. with Dr. Roger Lasken), and was then adapted for full length and whole transcriptome amplification and expression profiling (RNA-seq) (PNAS 2013a). Combining these together, we established the proof of principle for co-detection and sequencing of gDNA and mRNA from the same single cells (Scientific Reports, 2014). We have in addition developed a simple and robust method for telomere length measurement of single cells (PNAS 2013b). We have also independently renovated RRBS for single cell analysis, and extended the genome-wide bisulfite sequencing to the single cell level. Recently we have been building up on a different method for genome-wide CpG methylation pattern sequencing independent of bisulfite conversion, which are particularly suitable for single cell analysis, and we again approach a new method for detection of condensed chromatin regions for single cells (manuscripts in submission or preparation). We adapt these technologies into other advanced systems and platforms especially high throughput sequencing (NGS) and microfluidics such as Fluidigm platform and collaborate with other investigators to study the gene regulation network for induced pluripotent stem cells (iPSC), embryonic stem cells (ESC), adult stem cells (HSC, hMSC), neurons, cells of the immune system and cancers, and have been starting an effort to apply these technologies into translational medicine.

Park, In-Hyun

Research Interests:Reprogramming; iPS cells; Neurodevelopment; Epigenetics

Reinke, Valerie

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

Seashore, Margretta Reed

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.

Shadel, Gerald S

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

Slayman, Carolyn Walch

Research Interests:Genetics of Ion Transport

Somlo, Stefan

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

Spencer-Manzon, Michele

Research Interests:Enzyme replacement therapy for inborn errors of metabolism. Novel therapies for inborn errors of metabolism. Developmental dyspraxia and Neurodevelopmental Disorders. Quality improvement of clinical care for patients with genetic disorders.

Clinical Interests:Inborn errors of metabolism, developmental dyspraxia, neurodevelopmental disorders, neuromuscular disorders, and genetic syndromes. Glycogen Storage Diseases. Mitochondrial Disease.

Sun, Zhaoxia

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

Sweasy, Joann Balazs

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

Tattersall, Peter John

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

Weatherbee, Scott Donald

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

Weissman, Sherman Morton

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

Xiao, Andrew Zhuo

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

Zhang, Hui Z

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

Zhao, Hongyu

Research Interests:Statistical genomics and proteomics; Bioinformatics; Data integration; High dimensional data; Network and graphical models; Disease risk prediction; Herbal medicine; Microbiome