The Division of Genetics & Genomics at Boston Children’s Hospital Faculty Directory SEARCH BY PRACTICE AREASelect a Practice AreaClinical StudiesLab ResearchSees Patients SEARCH BY TEXT SEARCH BY RESEARCH AREASelect a Research AreaBioinformatics and Computational GenomicsBrain DevelopmentDevelopmental BiologyEpigenetics and Transcriptional RegulationEthical, legal, and social implications (ELSI) of genomicsGene and Cell Based TherapiesInborn Errors of MetabolismLysosomal Storage DisorderMuscle BiologyNeurodevelopmental and Neuropsychiatric DisordersNeuromuscular DiseasePersonalized and Precision MedicineRare and Orphan DiseasesSomatic MutationsSudden Unexpected Death in Pediatrics (SUDP)Transposable Elements SEARCH ALPHABETICALLYABCDEFGHIJKLMNOPQRSTUVWXYZALL Displaying 41 search results below.Aya Abu-El-Haija, MD, MPHAttending Physician Instructor in PediatricsCancer genetics and prevention. > Walla Al-Hertani, MD, MS, FRCPC, FACMGDirector, Boston Children's Lysosomal Disease Program (BoLD)Attending PhysicianAssociate Professor of PediatricsAdrenoleukodystrophy (ALD), Barth Syndrome, Biochemical Genetic Testing, Galactosemia, Genetic Disorders, Genetic Testing, Phenylketonuria PKU > Alan H. Beggs, PhDSir Edwin & Lady Manton Professor of PediatricsDirector, Manton Center for Orphan Disease ResearchCore Director, Molecular Genetics Core, Intellectual and Developmental Disabilities Research Center (IDDRC)Pathophysiology of rare genetic conditions. > Gerard Berry, MD, FFACMGDirector, Metabolism ProgramHarvey Levy Chair in MetabolismAttending PhysicianProfessor of PediatricsCarbohydrate metabolism and galactosemia. > Olaf Bodamer, MD, PhD, FACMG, FAAPDirector of the Roya Kabuki ProgramDirector of the NORD Rare Disease Center at Boston Children's HospitalAttending PhysicianAssociate Professor of PediatricsTranslational research to identify novel therapies for Niemann-Pick Type C, Kabuki syndrome and related neurodevelopmental disorders > Philip Boone, MD, PhDAttending PhysicianInstructor in PediatricsHuman genetics, genome organization, Cornelia de Lange Syndrome, and disease modeling. > Catherine Brownstein, MPH, PhDAssistant Director, Molecular Genomics Core FacilityAssistant Professor of PediatricsDiscovery of new genes for rare and orphan diseases. > Lynn W. Bush, PhD, MS, MAScientist, Boston Children’s HospitalLecturer on Pediatrics, pt, Harvard Medical SchoolBioethics, developmental science. > Ming Hui Chen, MD, MMScDirector, C-BrDG-Cardiac-Brain Development and Genetics ProgramDirector, Cardiovascular Health for Cancer Survivors ProgramDirector, Stress Echocardiography ProgramAttending Physician in CardiologyAssociate Professor of PediatricsCardiovascular Disease and Genetics > Sangita Choudhury, PhDAssistant Professor in PediatricsAssociate Member, Broad Institute of MIT and HarvardCardiovascular Genetics, Regeneration, Aging, Somatic mutation, Genetics, Translational Cardiovascular Genetics. > Gerald Cox, MD, PhDAttending PhysicianInstructor in PediatricsGenetics, genetic eye diseases and disorders. > Ryan Doan, PhDAssistant Professor of PediatricsAutism Spectrum Disorder > Michael Duyzend, MPhil, MD, PhDAttending PhysicianPrenatal Genomics, Genomics of the Developmental Continuum, Cell-Free DNA Screening, and Computable Phenotypes > Jason Flannick, PhDAssistant Professor of PediatricsAssociate Member, Broad Institute of MIT and HarvardComputational approaches to use human genetic and broader genomic data to understand or better treat human diseases, with a current focus on diabetes. > David Glahn, PhDAssociate Chief for Research, Department of PsychiatryDirector, Tommy Fuss Center for Neuropsychiatric Disease ResearchDirector, Early Psychosis Investigation Center (EPICenter)Director, Neuropsychiatric Genetics ProgramProfessor of Psychology, Department of PsychiatryGenetics effect on psychotic and affective disorders. > Benjamin Goodlett, PhDAttending PsychologistInstructor in Psychology, Department of PsychiatryAssessment and therapy for individuals with Inborn errors of metabolism. > Emanuela Gussoni, PhDAssociate Professor of PediatricsMuscular dystrophy, Muscle stem cells. > David J. Harris, MDLecturer in PediatricsDiagnostic and counseling services for families with general genetic problems. > Maxwell G. Heiman, PhDAssociate Professor of Genetics and PediatricsHow cells get their shapes and assemble into organs. > Ingrid Holm, MD, MPHAttending Physician in Genetics and EndocrinologyProfessor of PediatricsEthical, legal, and social implications (ELSI) of genomics, and rare disease research > August Yue Huang, Ph.D., Ph.D.ScientistInstructor of PediatricsBioinformatics, Human Genetics, Genomics, Somatic mutation > Christina Jacobsen, MD, PhDDirector, Bone Health ProgramAssistant Professor of PediatricsAttending PhysicianGenetic disorders of bone, skeletal dysplasias and pediatric osteoporosis > Hyun Kim, PharmDClinical PharmacistClinical Pharmacogenomics > Amy Kritzer, MDAttending PhysicianClinical DirectorAssistant Professor in PediatricsClinical genetics and inborn errors of metabolism, quality improvement > Louis M. Kunkel, PhDProfessor of Genetics and PediatricsMuscular dystrophy. > Eunjung (Alice) Lee, PhDAssociate Professor of PediatricsGenomic studies. > Harvey Levy, MDAttending PhysicianProfessor of PediatricsBiochemical genetic testing, newborn screening, phenylketonuria. > Deborah Marsden, MB, BS, FAMCGGAttending PhysicianCorresponding Member of the Faculty of PediatricsClinical genetics and rare disorders. > David Miller, MD, PhDDirector, Neurofibromatosis Research InitiativeDirector, Neurofibromatosis ProgramAttending PhysicianAssociate Professor of PediatricsNeurofibromatosis, genetic disorders. > Ganeshwaran H. Mochida, MD, MMScAttending PhysicianAssistant Professor of PediatricsDevelopmental brain disorders > Anne O’Donnell-Luria, MD, PhDAssistant Professor of PediatricsAttending PhysicianCo-Director, Center for Mendelian Genomics, Broad Institute of MIT and HarvardRare disease, gene discovery, reference population databases, variant and gene curation. > Mayra Martínez Ojeda, MDAttending PhysicianDirector, HMSGTP Fellowship ProgramAssistant Professor in PediatricsNeurofibromatosis and brain development and genetics. > Jonathan Picker, MBChB, PhDDirector, Pharmacogenomics Service and Fragile-X ProgramDirector HMSGTP Training Program CoursePhysician in Clinical Genetics and Child & Adolescent PsychiatryAssistant Professor of PediatricsRole of genes in behavior and application to Personalized Medicine > Amy E. Roberts, MDDirector, Cardiovascular Genetics Research ProgramAttending Physician in Cardiology and GeneticsAssociate Professor of PediatricsGene discovery. > Lance H. Rodan, MDAttending PhysicianAssistant Professor of PediatricsNeurometabolic disorders. > Stephanie Sacharow, MDDirector, Harvey Levy Program for Phenylketonuria and Related ConditionsDirector, PAL ClinicAttending PhysicianAssistant Professor of PediatricsClinical Genetics and Inborn Errors of Metabolism, special interest in dysmorphology, developmental disabilities, and Phenylketonuria (PKU) > Joan Stoler, MDAttending PhysicianAssociate Professor of PediatricsUndiagnosed diseases, clinical genetics and craniofacial disorders > Wen-Hann Tan, BMBSAttending PhysicianAssociate Professor of PediatricsAngelman syndrome, genetics of rare Mendelian disorders. > Christopher Walsh, MD, PhDDivision ChiefBullard Professor of Pediatrics and NeurologyDirector, Allen Discovery Center for Human Brain EvolutionInvestigator, Howard Hughes Medical InstituteThe development, evolution, and function of the human cerebral cortex. > Monica Wojcik, MDAttending Physician in Neonatology and GeneticsAssistant Professor of PediatricsGenetic/genomic medicine and the care of high-risk neonates. > Timothy W. Yu, MD, PhDAttending PhysicianAssociate Professor of PediatricsTranslational genomic medicine, human gene knockouts in autism. >
