The proposed Training Grant in Genetics is the centerpiece in efforts to provide postdoctoral research training in medical genetics in the Harvard Medical School (HMS) Genetics Training Program (HMSGTP) with an overall goal to train the future academic leaders of this discipline. Recent advances in genetics and genomics, in particular the sequencing of the human genome, have dramatically accelerated the pace of research in this area. Genetics and genomics are currently the major drivers of medical research, and promise to lead to advances in diagnosis and treatment of both rare and common disorders. Implementation of the many advances in genetics requires a well educated and talented workforce of genetics professionals. The Training Grant in Genetics has made possible the opportunity to offer training to physicians and scientists in a wide variety of topics in medicl genetics, enabling them to take advantage of the extraordinarily rich academic environment present at HMS and its affiliated institutions as well as the greater Boston scientific community. In addition, it has served to promote interactions between medical geneticists and investigators and provided a forum for increasing faculty contact with trainees in didactic sessions. Training laboratories of the program have historically been centered now for nearly four decades at HMS and its affiliated institutions including Brigham and Women's Hospital (BWH), the HMS Department of Genetics, Beth Israel Deaconess Medical Center (BIDMC), Children's Hospital Boston (CHB), Dana Farber Cancer Institute (DFCI), and Massachusetts General Hospital (MGH), and more recently have also included laboratories at the Massachusetts Institute of Technology (MIT). Since the last renewal of this training grant, the Harvard Medical School-Partners HealthCare Center for Genetics and Genomics (HPCGG) became Partners Center for Personalized Genetic Medicine (PCPGM), carrying forward the HPCGG mission to facilitate training of the next generation of medical geneticists, and the TGG is a fundamental component in accomplishing this goal. Most recently, the creation of the Broad Institute of MIT and Harvard and the Center for Human Genetic Research (CHGR) at MGH have even further enhanced training opportunities for geneticists in Boston. The focus of training is medical and human genetics, and the program is fully integrated with the HMS American Board of Medical Genetics (ABMG) training program, accredited by the ABMG in all areas of training (Clinical Biochemical Genetics, Clinical Cytogenetics, and Clinical Molecular Genetics) and by the ACGME in all relevant areas (Clinical Genetics and the two subspecialties of Medical Biochemical Genetics and Molecular Genetic Pathology) and in all areas of combined training with medical genetics leading to dual board certification (Internal Medicine/Medical Genetics, Pediatrics/Medical Genetics, and Maternal-Fetal Medicine/Medical Genetics), providing the opportunity for trainees to become active candidates for the certification examination in a discipline(s) of medical genetics in addition to receiving research training for two to three years.
The proposed program provides postdoctoral research training in medical genetics with an overall goal to train future academic leaders who will apply this knowledge to an understanding of human genetic disorders. Through rigorous training in the principles of genetics, trainees will exploit recent advances in genetics and genomics to discover the pathogenesis and pathobiology of inherited disease, and to use this information to improve human health. Understanding the etiology of heritable disease will lead to molecular classification, inform risk of recurrence and facilitate development of novel and more effective therapies. Such knowledge has potential to reduce costs in healthcare through stratification of patients for treatment and management based on the underlying genetic basis of their conditions.
|Whiffin, Nicola; Minikel, Eric; Walsh, Roddy et al. (2017) Using high-resolution variant frequencies to empower clinical genome interpretation. Genet Med 19:1151-1158|
|Srivastava, Siddharth; Sahin, Mustafa (2017) Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. J Neurodev Disord 9:23|
|Cummings, Beryl B; Marshall, Jamie L; Tukiainen, Taru et al. (2017) Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9:|
|Zhang, Xiaolei; Minikel, Eric V; O'Donnell-Luria, Anne H et al. (2017) ClinVar data parsing. Wellcome Open Res 2:33|
|Elsharkawi, Ibrahim; Gozal, David; Macklin, Eric A et al. (2017) Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome. Sleep Med 34:84-89|
|Srivastava, Siddharth; Gubbels, Cynthia S; Dies, Kira et al. (2017) Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol 32:840-845|
|Crosson, Jane; Srivastava, Siddharth; Bibat, Genila M et al. (2017) Evaluation of QTc in Rett syndrome: Correlation with age, severity, and genotype. Am J Med Genet A 173:1495-1501|
|Di Gioia, Silvio Alessandro; Connors, Samantha; Matsunami, Norisada et al. (2017) A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. Nat Commun 8:16077|
|Jayaratne, Yasas S N; Elsharkawi, Ibrahim; Macklin, Eric A et al. (2017) The facial morphology in Down syndrome: A 3D comparison of patients with and without obstructive sleep apnea. Am J Med Genet A 173:3013-3021|
|Krier, Joel B; Kalia, Sarah S; Green, Robert C (2016) Genomic sequencing in clinical practice: applications, challenges, and opportunities. Dialogues Clin Neurosci 18:299-312|
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