Genetic conditions, though often individually rare, are common in aggregate, and disproportionately impact patients, families, healthcare systems, and society. New and evolving technological approaches continue to yield dramatic changes in the ability to diagnose (and therefore better manage) affected individuals. The capacity to efficiently analyze - as well as produce - genomic data has also increased significantly. Substantial work remains to enable optimal mining of relevant phenotypic as well as genotypic data.
Recent developments in applying computational approaches such as deep learning (DL) (including natural language processing and image processing) to health-related questions suggest strong potential. While these approaches have specifically been applied to genetic conditions, many challenges and questions require further investigation to optimally utilize these methods.
The overall goal of the Medical Genomics Unit (MGU) is to use analytic and computational approaches to develop, test, and implement methods of interrogating datasets relevant to genetic conditions. Types of data to be analyzed include clinical/phenotypic information such as images, data from medical records/electronic health records, as well as genomic and related biologic data. Combining methods to incorporate multiple types of data is anticipated to enable novel insights as well as flexible models of analysis. Improving these methods may allow more efficient and accurate investigations into aspects of many aspects of human health and disease.
These methods and the related results will focus on exploring questions that are directly clinically-relevant in addition to scientifically important, with the goal of yielding or helping lead to tools that can assist researchers to understand genetic conditions and clinicians to better manage patients and families. While some MGU investigations will be conducted using data from specific conditions in proof-of-principle scenarios, the general methods are anticipated to be initially largely agnostic to any particular condition. That is, these methods will enable approaches that can be applied broadly to many types of appropriate datasets. With time, the MGU does plan to focus increasingly on certain types of congenital anomalies and conditions.
Dr. Solomon earned his medical degree from Geisel School of Medicine at Dartmouth. He completed medical training in pediatrics and clinical genetics through a joint Children’s National/National Human Genome Research Institute program. After completing this program, Dr. Solomon remained at NHGRI for several years as a Staff Clinician; his work focused on understanding the causes and biology of a number of congenital disorders as well as applying emerging technologies and analytic approaches to genomic and phenotypic datasets in order to ask a variety of research questions.
Dr. Solomon joined the Inova Translational Medicine Institute (ITMI) in 2013 as the Chief of the Division of Medical Genomics. In this role, Dr. Solomon led a team of clinicians, bioinformaticists, and bench-based scientists to deliver clinical care and conduct genomic research. In 2016, Dr. Solomon became the Managing Director of GeneDx, a genetics/genomics diagnostic company with a strong emphasis on research and the discovery of novel causes of disease. In this role, which he held until returning to NHGRI as Clinical Director, he led a team of over 400 molecular geneticists, genetic counselors, and laboratory and research staff. Throughout his entire career, he has always continued to be an avid participant in clinical genomics education, including formal and informal teaching of medical students, residents, fellows, postdoctoral and other trainees, as well as re-educating the existing clinical and scientific workforce about genomics. Additionally, since 2017, Dr. Solomon served as deputy editor-in-chief and then editor-in-chief for the American Journal of Medical Genetics. He has authored and co-authored more than 150 peer-reviewed papers, commentaries, and book chapters. His research interests focus on developing and testing methods to accurately and efficiently analyze diverse datasets relevant to the causes, manifestations, and management of genetic conditions, and which can be applied to broader areas of human health and disease.
- Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 2020;383(27):2628-2638.
- Green ED, Gunter C, Biesecker LG, Di Francesco V, Easter CL, Feingold EA, Felsenfeld AL, Kaufman DJ, Ostrander EA, Pavan WJ, Phillippy AM, Wise AL, Dayal JG, Kish BJ, Mandich A, Wellington CR, Wetterstrand KA, Bates SA, Leja D, Vasquez S, Gahl WA, Graham BJ, Kastner DL, Liu P, Rodriguez LL, Solomon BD, Bonham VL, Brody LC, Hutter CM, Manolio TA. Strategic vision for improving human health at The Forefront of Genomics. Nature. 2020;586(7831):683-692.
- Huang AT, Garcia-Carreras B, Hitchings MDT, Yang B, Katzelnick LC, Rattigan SM, Borgert BA, Moreno CA, Solomon BD, Trimmer-Smith L, Etienne V, Rodriguez-Barraquer I, Lessler J, Salje H, Burke DS, Wesolowski A, Cummings DAT. A systematic review of antibody mediated immunity to coronaviruses: kinetics, correlates of protection, and association with severity. Nat Commun. 2020;11(1):4704.
- LoPresti M, Beck DB, Duggal P, Cummings DAT, Solomon BD. The Role of Host Genetic Factors in Coronavirus Susceptibility: Review of Animal and Systematic Review of Human Literature. Am J Hum Genet. 2020;107(3):381-402.
- Solomon BD, Nguyen AD, Bear KA, Wolfsberg TG. Clinical genomic database. Proc Natl Acad Sci U S A. 2013;110(24):9851-5.
Related Scientific Focus Areas
Genetics and Genomics
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This page was last updated on Wednesday, August 24, 2022