NIH cuts threaten Baltimore research

Baltimore's thriving research environment is threatened by cuts to federal spending.

If you end up near the Baltimore Convention Center this week, you may notice crowds of people carrying black and teal tote bags. The American Society of Human Genetics is meeting there through Saturday, bringing 8,000 researchers, clinicians and ethicists from more than 60 countries to the city.

We are thrilled to bring our annual meeting back to Baltimore (our most visited venue), where research of all kinds has a long history and still thrives today. Last year, Baltimore institutions including Johns Hopkins University and the University of Maryland Medical School received more than $800 million in funding from the National Institutes of Health (NIH) — providing a beacon of hope not just for the residents of Baltimore but the entire world. Thanks to funding from NIH, the National Science Foundation and other federal science agencies, Hopkins is ranked number one among all U.S. institutions for research and development expenditures — and has been for 35 straight years.

But genetics research and the thriving research environment in this city are threatened by reductions in funding. When corrected for inflation, the NIH budget has declined by more than 22 percent in the last decade. This is bad news for patients and their families hoping for cures and for communities like Baltimore where research is a major economic driver, and has been for decades.

In 1957, just four years after the structure of DNA was discovered, Victor McKusick established one of the country's first Divisions of Medical Genetics at Hopkins. He and his trainees identified genes involved in many disorders, including Marfan syndrome and several forms of dwarfism. In 1960, McKusick started a catalog of human genes and their relationships to traits and disorders that remains the standard resource in the field.

Barton Childs, also at Hopkins, in the Department of Pediatrics, was another genetics pioneer. He and his colleagues, including Barbara Migeon, showed that although females have two X chromosomes in every cell, one becomes inactivated and ends up having little impact on how that cell behaves. Childs and his colleagues went on to develop and promote individualized medicine, the precursor of Precision Medicine, currently championed by President Barack Obama. Indeed, NIH Director Francis Collins will speak on the national Precision Medicine Initiative at our meeting this week.

Hopkins scientists Hamilton Smith and Daniel Nathans, Nobel Prize recipients in 1978, discovered that enzymes could be used to cut DNA into specific, recognizable pieces, paving the way to mapping genes. Also at Hopkins: Aravinda Chakravarti seminally contributed to the first positional gene cloning, that for cystic fibrosis; David Valle identified genes for inherited retinal degenerations that led to novel treatments; and Haig Kazazian has led the development and application of molecular tests to diagnose hematological genetic conditions such as sickle cell disease.

In its early years, genetics focused on explaining the origins of disease. Today, through novel technologies, we are in a much stronger position to address treatment of genetic diseases. At the same time, this research — with the potential to profoundly affect our lives — raises ethical, legal and social questions that will be discussed (and debated) at this week's meeting. What is the best way to add new prenatal genetic tests, which are less invasive but more costly, to clinical practice? How should providers handle the results of genetic tests performed on children and teens to protect their health while respecting their privacy and their right to make decisions that can affect them as adults? How can we harness the enormous potential of new gene-modifying technology in the most productive and ethical way? These rapid advances also come with tremendous educational requirements that geneticists at Hopkins and Maryland are leading.

To ensure the vitality of genetics research in Baltimore in the years to come, we encourage the entire Maryland delegation to expedite the passage of the 2016 spending bills. These would increase funding for our federal science agencies, enable the discoveries that make innovative health care possible and help us fulfill the promise of genetics research.

Dr. Neil Risch ( is the 2015 president of the American Society of Human Genetics and director of the Institute for Human Genetics at the University of California, San Francisco. Dr. Hal Dietz ( is the 2016 president of ASHG and the Victor A. McKusick Professor of Medicine and Genetics at the Johns Hopkins University School of Medicine.

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