NHGRI Scientific Director Dan Kastner elected to the Institute of Medicine

By Ray MacDougall
Associate Communications Director for Intramural Research

Daniel Kastner
Daniel L. Kastner, M.D., Ph.D., scientific director of the National Human Genome Research Institute (NHGRI), has been elected to the Institute of Medicine (IOM), one of the highest honors in the fields of health and medicine.

Dr. Kastner was the only member from the National Institutes of Health announced during the IOM's annual meeting on Oct. 15, 2012. Established in 1970 as the health branch of the National Academy of Sciences (NAS), the 2000-member IOM has become recognized as a national resource for independent, scientifically informed analysis and recommendations on health issues.

"Dan Kastner is a formidable scientist and clinician who will be a valuable addition to the Institute of Medicine membership," said NHGRI Director Eric D. Green, M.D., Ph.D. "At NHGRI, he oversees a complex and vibrant research enterprise that is advancing the roles for genomics in medicine and training the best and brightest younger scientists and clinicians."

"The Institute of Medicine is greatly enriched by the addition of our newly elected colleagues, each of whom has significantly advanced health and medicine," said IOM President Harvey V. Fineberg, M.D., Ph.D. "Through their research, teaching, clinical work and other contributions, these distinguished individuals have inspired and served as role models to others. We look forward to drawing on their knowledge and skills to improve health through the work of the IOM."

Dr. Kastner has been NHGRI Scientific Director since October 2010. In this role, he provides leadership and managerial oversight for all research and related activities within the institute's Division of Intramural Research. As the leader of the Inflammatory Disease Section of the Medical Genetics Branch, Dr. Kastner studies the genetics, pathophysiology, and treatment of inherited disorders of inflammation through an integrated clinical and laboratory program.

Prior to joining NHGRI, he served as the Clinical Director and the Director of Translational Research at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). NHGRI and NIAMS are two of the 27 Institutes and Centers that make up the National Institutes of Health. Throughout his career, Dr. Kastner has combined genetics and genomics with clinical research. Since joining NIH in 1985 as a rheumatology fellow, he established a highly productive career that encompasses basic research and patient care.

Among his early achievements was the discovery of a then-novel gene encoding a protein Dr. Kastner's group named pyrin, mutations in which cause an inflammatory condition known as familial Mediterranean fever (FMF). Mutations in pyrin lead to excessive interleukin-1 production, thereby causing cycles of fever, abdominal pain, and arthritis. The discovery led to the recognition of a motif, the pyrin domain, which is found in some 20 different human proteins that regulate inflammation. Dr. Kastner's laboratory is credited with additional gene discoveries and insights about inflammatory diseases. These include identifying defects in the genes causing a disease called TNF-receptor associated periodic syndrome or TRAPS and a neonatal multisystem inflammatory disease, named NOMID. Dr. Kastner's group coined the term "autoinflammatory disease" to denote this group of mechanistically similar illnesses. The discovery of these disease genes has led to life-changing treatments for affected patients.

Dr. Kastner continues to see patients at the NIH Clinical Center. He maintains an active clinical protocol that has evaluated nearly 1,500 patients with known and uncharacterized inflammatory conditions, and continues to accept referrals. His research laboratory currently utilizes the resources of the NIH Intramural Sequencing Center to discover new disease-causing genes by next-generation sequencing. Dr. Kastner recently presented his work at the Great Teachers Lecture of the NIH Clinical Center, available at http://videocast.nih.gov/summary.asp?live=11775.

Born in Lockport, N.Y., Dr. Kastner received his A.B. in philosophy summa cum laude from Princeton University in 1973. He then entered medical school at the Baylor College of Medicine in Houston. After the first two years, Dr. Kastner focused on microbiology and immunology research, earning a Ph.D. in 1979. He then completed his medical degree at Baylor in 1982, followed by a residency in internal medicine, including serving as chief resident in 1985. He then joined NIH as a rheumatology fellow. In 1990 he became a tenure-track investigator in NIAMS, and by 2001 he had risen to the role of chief of the Genetics and Genomics Branch of NIAMS, which he continued to lead until 2009.

In addition to conducting his own research, Dr. Kastner began to take on additional leadership duties, including becoming clinical director and director of translational research at NIAMS in 2005. In 2008, he became the first NIH deputy director for intramural clinical research. In 2009, he became chief of the NIAMS Laboratory for Clinical Investigation, where he helped promote and facilitate a broad range of clinical studies.

Upon learning of his election to the IOM, Dr. Kastner said, "This is one of the most gratifying moments of my career, but it is all due to my wonderful colleagues in the laboratory, in the clinic, and in our administrative offices, to the patients who have so generously participated in our studies, to the wonderful environment of the intramural NIH, especially at NHGRI and NIAMS, to the NIH Clinical Center, and to my always-supportive wife and family."

In 2010, Dr. Kastner was elected to the NAS, an elite body of distinguished U.S. scientists and engineers who advise the federal government on science and technology.

About the Institute of Medicine

The Institute of Medicine is unique in its structure as both an honorific membership organization and an advisory organization. Established in 1970 by the National Academy of Sciences, IOM has become recognized as a national resource for independent, scientifically informed analysis and recommendations on health issues. With their election, members make a commitment to volunteer their service on IOM committees, boards, and other activities. Projects during the past year include studies of environmental factors in breast cancer, health IT and patient safety, nutrition rating systems and graphics on food packaging, the scientific necessity of chimpanzees in research, establishing crisis standards of care during catastrophic disasters, improving care for epilepsy, and treatment of post-traumatic stress disorder.

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Posted: October 15, 2012