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The Department of Genetic Medicine maintains several large centers funded in part by the National Institutes of Health. These research resources have a long history at Johns Hopkins and provide the foundation for innovative research, as well as providing services and information to scientists around the world.
Online Mendelian Inheritance in Man
Director: Ada Hamosh, M.D., M.P.H.
OMIM, is an encyclopedia of genetic disorders, their clinical features and the genes that contribute to them. The database contains information on thousands of Mendelian conditions, disorders caused by errors in a single gene. The database was developed 55 years ago by Victor McKusick and is now maintained by Ada Hamosh, MD, MPH, and her team. OMIM is used by 2.7 million unique users per year around the world.
The Genetics Resources Core Facility
Directors: Melissa Olson, Ph.D., and Alan Scott, Ph.D.
GRCF provides year-round research expertise, products, and services for the study of the human genome. At the leading edge of technology, the GRCF provides sophisticated tools and equipment oftentimes not available in individual research labs. The mission of the GRCF is to provide high quality, cost effective research services and products to investigators throughout the Johns Hopkins scientific community. Accordingly, GRCF services cover a broad segment of genetic research including:
- CLIA CAP approved biorepository
- DNA services
- SNP genotyping
- High throughput next generation sequencing
- RNA services
Johns Hopkins Genomics
Directors: Chris Gocke, MD, and Kim Doheny, Ph.D.
JHG provides research and clinical genotyping and sequencing together with extensive analytic expertise. A partnership between the Departments of Genetic Medicine and Pathology, JHG opened its doors in 2017, co-localizing four existing labs:
- Molecular Diagnostic Lab, which provides diagnostic services for oncology patients
- Center for Inherited Disease Research, which focuses on gene discovery research
- High Throughput Sequencing Lab, which provides research services
- DNA Diagnostic Lab, which focuses on diagnosing Mendelian disorders and whole exome sequencing services.
Center for Inherited Disease Research
Director: Kimberly Doheny, Ph.D.
CIDR, is a national resource, offering sequencing and genotyping services to scientists looking to discover genes and variants that contribute to human disease. As part of Johns Hopkins Genomics, CIDR researchers focus on the genetic architecture of complex traits, looking at conditions that include many genetic variants and how these variants accumulate to manifest disease. This includes conditions such as cancer risk, macular degeneration, cleft lip and palate, diabetes, Alzheimer’s disease, Parkinson’s disease, deafness, drug addiction and psychiatric disorders. Since opening its doors in 1996, CIDR has been continuously funded by contracts from a consortium of ten institutes from the National Institutes of Health. To date, CIDR has completed more than 400 projects involving more than 1 million DNA samples and producing approximately 1,300 publications.
The Baylor-Hopkins Center for Mendelian Genomics
Directors: David Valle, MD and James Lupski, M.D., Ph.D.
BHCMG accepts samples from thousands of people with rare disorders submitted by a worldwide network of rare-disease experts. A collaboration between Baylor College of Medicine and Johns Hopkins, the goal of the center is to sequence the genomes of people with these conditions as well as appropriate family members to identify the genes and variants responsible for disorders whose molecular basis was previously unknown. In particular, the center seeks families with known or novel conditions for which the culprit gene is unknown. Successful identification of the responsible gene connects a particular gene with a particular set of clinical features, thereby enabling precise molecular diagnosis and prognosis.It also informs research on the development of rational treatment and providing families with information about recurrence risk.
The Louma G. Foundation Center for Epigenetics Research
Director: Hans Bjornsson, M.D., Ph.D.
Focused on Kabuki syndrome and related Mendelian disorders of the epigenetic machinery. These rare disorders result from mutations in single genes encoding components of the systems that add, interpret or delete epigenetic marks with the result that sets of genes are mis-regulated. Currently we know of more than 40 such epigenetic disorders, most of which have intellectual disability and growth abnormalities as prominent clinical consequences. By understanding the features and pathogenesis of these precise abnormalities of the epigenetic system IGM investigators expect to understand not only each disorder but also to how the whole epigenetic systems functions and the pathophysiological consequences that accrue when the system malfunctions. This research complements the clinical services offered in the IGM Epigenetics and Chromatin Clinic where patients with these disorders are diagnosed, characterized and treated.
The Center for Vascular Ehlers-Danlos Syndrome Research
Director: Hal Dietz, M.D.
Focused on understanding the molecular pathophysiology of the vascular form of Ehlers-Danlos syndrome (vascular EDS) with the aim of providing informed management of these patients as well as developing new forms of therapy. The Center will utilize advanced genetic and molecular methods to discover the sequence of events that contribute to structural weakening of the arterial wall and internal tissues over time, ultimately leading to tear or rupture and the potential for early death. The research team has developed two mouse models of vascular EDS that demonstrate most of the important physical findings seen in patients with the disorder. As in people with vascular EDS, we observe tremendous variation in the timing of onset and severity of vascular disease in our mouse colonies. Our strong belief is that both genetic and environmental factors have the capacity to afford strong protection in vascular EDS. Once identified, we will attempt to mimic the mechanism of protection using medications or other strategies. The Center also aims to coordinate expert clinical care of individuals with vascular EDS, and to promote research in the clinical sciences that will improve both the length and quality of life for affected individuals. The Center for Vascular Ehlers-Danlos Syndrome Research has received generous and visionary funding from a variety of sources including the EDS Network CARES Foundation, the EDS Today Advocates, the DEFY Foundation, the Aldredge Family Foundation, and the Daskal Family Foundation.