Director, Center for Basic and Translational Obesity Research
Joel Hirschhorn is the Concordia Professor of Pediatrics and a Professor of Genetics at Harvard Medical School and Children's Hospital, Boston, where he directs the Center for Basic and Translational Obesity Research. He is also a Senior Associate Member and co-Director of the Metabolism Initiative at the Broad Institute.
He received his AB summa cum laude in Biochemistry from Harvard College and his MD and PhD in genetics from Harvard Medical School. He subsequently completed an internship and residency in pediatrics, and a fellowship in endocrinology at Children's Hospital Boston. As a postdoctoral fellow with Eric Lander at the Whitehead Institute/MIT Center for Genome Research, he developed and implemented tools and methods to perform and interpret genetic association studies including genotyping technologies and analytic methods.
He started his own laboratory at Children's Hospital Boston in 2001. In 2011, Dr. Hirschhorn was awarded the American Pediatric Society’s Norman J. Siegel New Member Outstanding Science Award and the Society for Pediatrics Research E. Mead Johnson Award.
Analysts and Researcher Assistants
Rigel graduated from the Biological and Biomedical Sciences (BBS) Program at Harvard Medical School in 2009 and joined the Hirschhorn lab on July 01, 2010. Rigel's research interest is computational human genetics and his hobbies include golf and tennis.
Contact Rigel: email@example.com
Sophie Ran Wang is a graduate student in the Biological and Biomedical Sciences (BBS) Program at Harvard Medical School. She joined the Hirschhorn lab in June 2010. Sophie graduated from Peking University in 2009 with a B.S. in Biological Sciences. She is now working on the analysis of whole exome data from BMI extreme samples. Contact Sophie at firstname.lastname@example.org
Andrew is a pediatric endocrinologist and clinical/translational researcher whose research focus is the genetic underpinnings of short stature. He attended college at Columbia University and then moved to Boston to attend Harvard Medical School. After medical school, he completed a residency in Pediatrics at Boston Children's Hospital and Boston Medical Center. He then served as Chief Resident at Children’s Hospital Boston prior to completing a fellowship in pediatric endocrinology at Children’s as well. During his fellowship, Andrew obtained a Master’s Degree in Clinical Investigation through the Clinical Investigator Training Program at Harvard Medical School. He is currently the Assistant Program Director of the Children’s Hospital Boston Clinical and Translational Studies Unit.
Andrew’s previous research experience includes a prospective study of Procalcitonin as a diagnostic marker for serious bacterial infection in febrile infants as well as a pilot crossover trial of dexamethasone versus hydrocortisone for the treatment of congenital adrenal hyperplasia in children. Additionally, he has conducted an in-depth physiological analysis of an infant with idiopathic infantile hypercalcemia using stable isotopes of calcium to measure his calcium absorption. That protocol included genetic analysis of the proband and his family using homozygosity mapping and whole exome sequencing which revealed a novel genetic cause of this disorder, a deficiency in the vitamin D 24-hydroxylase gene (CYP24A1). More recently, as a member of the Hirschhorn lab, he examined the role of copy number burden in short stature.
Andrew is currently recruiting a cohort of 500 families with children with Idiopathic Short Stature for an in depth genetic analysis of the causes of short stature. The children undergo detailed phenotyping as well as DNA collection. The exons of ~1000 candidate genes will be sequenced using Next Generation sequencing technology looking for rare genetic variants which may be affecting growth. Structural DNA variants are being investigated as well. Additionally, he is performing whole exome sequencing on a selected subset of these patients with particularly interesting syndromic features and family pedigrees.
In addition to his work in short stature, Andrew is conducting a pilot trial comparing closed-loop insulin therapy to standard insulin therapy in young children with type 1 diabetes.
Dr. Andrew Dauber's NIH Biosketch
David Kantor is a clinical fellow in the Division of Critical Care Medicine at Boston Children's Hospital with an interest in understanding the genetic and genomic components of diseases found in the Intensive Care Unit. Currently he is recruiting a cohort of severe pediatric asthmatics for an RNA profiling study, and working on a GWA study of asthmatic subjects found in large population based cohorts. David received his MD and PhD from Johns Hopkins University School of Medicine.
Tune Pers is a research fellow whose major interest is to develop pathway-based models of heterogeneous traits.
His current goal is to augment existing well-powered genome-wide association studies and extensive re-sequencing studies with complementary trait-specific molecular and literature-based evidence sources to identify novel sets of genetic variants that are unlikely to be identified in 'single data type-based studies' on their own.
Tune attended the University of Copenhagen, Denmark, received his Bachelor's degree in Computer Science in 2005, and his Master's degree in Bioinformatics in 2008. In 2011 he received his PhD from the Center of Biological Sequence Analysis (CBS) from the Technical University of Denmark. Mid 2011 Tune moved to Boston to join Dr. Joel Hirschhorn's research group at the Boston Children's Hospital (Harvard Medical School) and the Broad Institute of Harvard and MIT.
In 2011 Tune received the Sapere Aude Award, a carrier award from the Danish Ministry of Science given 'to the best research talents in Denmark'.