Most physicians know that the National Institutes of Health (NIH) is the single largest sponsor of health-related research in the world. But not all realize that the NIH has a second mission—to instill hope.
NIH Director Francis S. Collins, MD, PhD, will discuss the importance of this second mission during Monday’s annual Martin Memorial Lecture, NIH: The National Institutes of Hope.
Dr. Collins, a physician-geneticist, played a key role in discovering a number of genes associated with specific diseases and was a leader in the race to map the human genome. But early in his training, he never expected to become a physician, much less a guiding light illuminating what was once the unknown genetic landscape of health, variation, and disease. Initially an aspiring chemist, he had little interest in what he called the “messy” field of biology, earning a bachelor of science degree in chemistry at the University of Virginia, Charlottesville, and a PhD in physical chemistry at Yale University, New Haven, CT.
A biochemistry course at Yale would prove to change the course of medicine. While taking that course, Dr. Collins realized that a revolution was in the works for molecular biology and human genetics, so he enrolled at the University of North Carolina (UNC) Medical School, Chapel Hill, where he earned a medical degree in 1977.
After residency and a term as chief resident at UNC, he became a fellow in human genetics at the Yale School of Medicine. He soon began developing new methods of crossing large stretches of DNA to identify disease-specific genes, earning a reputation as a successful gene hunter. The resultant technique, called positional cloning, took him to the University of Michigan, Ann Arbor, where he became professor of internal medicine and human genetics.
Older methods used time-consuming techniques to copy DNA fragments. Positional cloning provided a shortcut—researchers could identify disease genes without first knowing the functional abnormality responsible for the disease.
In collaboration with other researchers, Dr. Collins identified genes associated with cystic fibrosis in 1989. He also helped to identify genes associated with Huntington’s disease, neurofibromatosis, multiple endocrine neoplasia type 1, and the M4 type of adult acute myeloid leukemia.
In 1993, Dr. Collins was appointed head of the National Center for Human Genome Research, Bethesda, MD, succeeding James D. Watson, PhD. The center became the National Human Genome Research Institute in 1997.
That same year, Dr. Collins joined biologist J. Craig Venter, PhD, to announce the first rough draft of the human genome. The reference version of the human genome was finished in 2003, 50 years after the publication of DNA structure by James Watson, PhD, and Francis Crick, OM, FRC.
Dr. Collins also oversaw the creation of the first haplotype map of the human genome. The International HapMap Project eventually published a catalog of single nucleotide polymorphisms that is still used to identify common genetic variants associated with specific diseases.
In 2009, Dr. Collins was nominated to head the NIH and received unanimous Senate confirmation.
Dr. Collins also is known for his close attention to the emerging legal and ethical issues in genetics. He is a strong advocate for protecting the privacy of genetic information and was a national leader in the passage of the Genetic Information and Nondiscrimination Act, which banned discrimination in employment and insurance using gene-based factors.
The Martin Memorial Lecture was established in 1946 to honor Franklin H. Martin, MD, FACS, founder of the American College of Surgeons, and his wife, Isabelle Hollister Martin. The Martin Memorial Lecture is alternately nominated by the Advisory Council for Urological Surgery and the ACS Honors Committee.