NIH and Johns Hopkins Establish a New Center to Study
Genetic and Environmental Origins of Common Disorders

January 1997

BETHESDA, Md. - In a creative government-university partnership, components of the National Institutes of Health (NIH) and the Johns Hopkins University (JHU) School of Medicine have established a new research center to analyze common disorders caused by the actions of multiple genes and interactions with the environment. The new Center for Inherited Disease Research (CIDR, pronounced SY-der) will give scientists a powerful new approach to understanding common but poorly understood modern-day disorders such as cancer, heart disease, diabetes, arthritis, and neurologic and psychiatric disorders.

Operating under a $21.8 million NIH contract over the next five years, CIDR is housed in a 14,000 square-foot facility at the Johns Hopkins Bayview Medical Center in Baltimore. Expected to be fully operational in the spring of 1997, the Center will employ a staff of about 25. CIDR represents a partnership among eight components of the National Institutes of Health, the federal government's largest biomedical research institution, and Hopkins, which is home to a world-renowned medical genetics program. The eight NIH participants are: the National Center for Human Genome Research (NHGRI), which serves as the lead component, the National Cancer Institute (NCI), the National Institute of Child Health and Human Development (NICHHD), the National Institute on Deafness and Communication Disorders (NIDCD), the National Institute on Drug Abuse (NIDA), the National Institute on Environmental Health Sciences (NIEHS), the National Institute of Mental Health (NIMH), and the National Institute of Neurological Disorders and Stroke (NINDS).

The interest of so many of the NIH institutes in pursuing the genetic basis of today's most common and confounding diseases signals a significant transition in our approach to understanding disease and opens the door to exciting new strategies for treatments and prevention, says Harold Varmus, M.D., Director of NIH. "Hopkins' commitment to molecular medicine and gene research is reflected in and strengthened by this Center," said William R. Brody, M.D., Ph.D., president of Johns Hopkins University (JHU).

So far, scientists have been quick to apply new gene-finding tools developed by the Human Genome Project (HGP) to uncover disease genes. These tools now make it possible for an investigator looking for a single gene to isolate it in a matter of months instead of years or even decades. And indeed, the number of single disease genes identified using these tools has increased dramatically over the past few years. Understanding the inheritance of single-gene disorders -- the so-called Mendelian disorders -- is relatively straightforward because their hereditary patterns were well established a century ago and are still reliable today.

But most diseases of modern life -- cancer, heart disease, diabetes, arthritis and a host of neuro-psychiatric disorders -- seem to result from the activities of several genes and the interplay between a human body and its environment. The direct causes of these disorders have been hard to elucidate because they appear to be intertwined in complicated ways that have so far resisted the tools of modern science. Several genes seem to contribute to such disorders, but the effect of each gene is rather weak, making it much more difficult to understand why some members of a family develop chronic disorders while others do not.

New technologies now give us the power to go after the genetic origins of ordinary diseases that are caused by multiple genes, says Robert Nussbaum, M.D., who came to NHGRI three years ago with the aim of developing a center for studying the genetics of complex disorders. As the CIDR mastermind, he will oversee the contract from the NIH side. David Valle, M.D., Hopkins professor of pediatrics, serves as acting director of CIDR while a search is underway to fill the post.

CIDR will specialize in a technique known as genotyping -- sorting through the entire genetic complement, or genome, of disease-prone family members to search for not one, but many gene regions associated with that disease. A person's genotype refers to his or her own arrangement of the DNA letters, A, T, C or G, in a particular region of their genome and may be different from one person to the next. Differences in genotype may point scientists toward DNA regions that are involved in a disease. Whole-genome analysis allows researchers to find lots of possible disease-related changes in a person's DNA.

Though focusing on genotyping, CIDR research will take place across five main components: 1) Statistical Genetics, which applies the power of statistics to the hereditary patterns of genes to determine modes of inheritance from parents to their children; 2) Genetic Epidemiology, which applies genetic analysis gathered from disease-prone families to the general population to determine if the genetic patterns of the research families hold in large, diverse populations; 3) Medical Informatics and Database Management, which uses computer programs to store, manipulate and analyze the research data; 4) Genotyping using state-of-the-art technology to rapidly scan whole genomes for multiple gene regions associated with a particular disorder; and 5) Technology Development, which continues to refine existing and generate new ways to perform high-capacity genotyping efficiently and cost effectively.

Scientists estimate that determining the genotypes at 300 to 400 locations in DNA will give them dense enough sampling to identify places likely to contain disease genes. In studies of large groups, hundreds of thousands of genotypes must be performed to find all the regions that contain genes related to a particular disease.

Under full capacity, CIDR researchers expect to analyze the genetics of six to nine complex disorders per year. CIDR will charge investigators funded by a participating NIH institute a reduced rate of $1.00 per genotype; investigators funded by non-participating sources will pay $3.50 per genotype. To use CIDR, scientists in academic labs, NIH, and industry will submit research proposals to a panel of scientists. The scientists will make recommendations to a CIDR governing board made up of directors of the NIH institutes that fund the center.

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Last updated: September 01, 2006