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NHGRI Names New Intramural Clinical Director

Dr. William A. Gahl to Lead Clinical Research Initiative Aimed at Rare Diseases

November 18, 2002

William A. Gahl, M.D., Ph.D. BETHESDA, Md. - The National Human Genome Research Institute (NGHRI) has named William A. Gahl, M.D., Ph.D., as its new intramural clinical director. Dr. Gahl's appointment comes at a critical juncture in NHGRI's history as researchers prepare to inaugurate a new era in medicine built upon the rapidly expanding base of genomic knowledge.

As head of the Office of the Clinical Director, Dr. Gahl will be responsible for overseeing the efforts of NHGRI intramural researchers working to develop better approaches to diagnosing, treating, managing and, ultimately, preventing genetic and genomic disorders. To help NHGRI achieve those ambitious goals, he will ensure that his office provides the expert clinical guidance and administrative infrastructure necessary for all of the institute's clinical protocols, as well as all of its basic science studies involving clinical specimens.

"Bill Gahl has a distinguished career as a biochemical geneticist, focused especially on bringing new therapeutic ideas to the treatment of rare diseases," said NHGRI Director Francis S. Collins, M.D., Ph.D. "At this moment in history, where the success of the Human Genome Project is creating considerably broader possibilities for understanding and treating genetic disorders, he is exactly the right person to lead our clinical programs."

Dr. Gahl will take a lead role in the development and implementation of innovative clinical research programs, such as NHGRI's new initiative: "Therapeutics in Genetics and Molecular Medicine." The Office of the Clinical Director also supports the NHGRI's training programs for medical geneticists and genetic counselors, as well as assisting NHGRI's Institutional Review Board (IRB) in ensuring the protection of people who participate in clinical trials or donate samples for basic studies.

"NHGRI's clinical research program already has physicians who are national or international experts in at least 12 human diseases. Based upon the information provided by the Human Genome Project, we plan to expand this expertise to broaden the range of disorders under investigation and to impart to physicians-in-training the principles and knowledge that will allow them to bring the fruits of genomics research to their patients," said Dr. Gahl. "We hope to work together with all the NIH institutes to turn this vision into reality."

In addition to spearheading NHGRI's overall clinical research and training efforts, Dr. Gahl will lead a joint program between NHGRI and the National Institutes of Health's (NIH) Office of Rare Diseases (ORD). This innovative partnership will focus on people suffering from complicated, unknown disorders, providing opportunities for selected patients to receive state-of-the-art diagnostic evaluation and for clinical researchers to investigate the possible genetic and/or genomic causes of the diseases.

Renowned for his work in identifying the genetic and biochemical underpinnings of rare diseases and translating such knowledge into promising therapeutic approaches, Dr. Gahl comes to NHGRI from the National Institute of Child Health and Human Development (NICHD), where he was chief of the Section on Human Biochemical Genetics in the Heritable Disorders Branch.

"Studying unique diseases helps us understand normal, as well as abnormal, processes in the cell," said Dr. Gahl "Knowledge acquired from studying these diseases not only helps us design much-needed therapeutic interventions to correct specific metabolic defects, it gives us a more profound understanding of human biology in general."

Among Dr. Gahl's many achievements are identification of two of the four known genes responsible for Hermansky-Pudlak syndrome (HPS), a rare, genetic disorder most often seen in Puerto Ricans that is characterized by albinism and bleeding due to improper formation and movement of vesicles within cells. Currently, Dr. Gahl's lab is conducting clinical trials of an anti-fibrotic agent called pirfenidone that may counteract a fatal lung disorder that frequently occurs in HPS patients.

"Human suffering is a daily reality for patients with genetic diseases. These individuals and their families often have no one to turn to for advice, support and treatment, especially in the case of a rare disease," said Dr. Gahl. "We serve as a conduit for the transfer of an enormous wealth of information from the Human Genome Project to patients for their care and treatment. Our intention is to become experts in diseases so we can use genetic information for the benefit of the people under our care."

In another study aimed at developing an effective therapy for a rare disease, Dr. Gahl's group is trying to determine the safety and efficacy of a drug called nitisinone for the treatment of alkaptonuria, a devastating joint disorder that typically appears when patients are in their thirties and progresses to the point where they need joint replacements in their mid-fifties. Besides the extremely painful destruction of bone in the spine, shoulders, hips and knees, alkaptonuria patients also experience deterioration of the heart's aortic valve. Nitisinone, or NTBC, is a drug that was approved by the U.S. Food and Drug Administration in January 2002 for the treatment of tyrosinemia type 1, a fatal liver disorder in infants. Drawing upon his experience in tracing biochemical pathways involved in genetic disorders, Dr. Gahl decided to test nitisinone as a treatment for alkaptonuria because the drug inhibits the enzyme that produces homogentisic acid, a compound that destroys joints and bones in patients with alkaptonuria.

Dr. Gahl's interest in basic biochemistry has also translated into diagnostic benefits for people suffering from various disorders of sialic metabolism. These disorders, depending on the type of genetic mutation causing the metabolic defect, can cause problems ranging from psychomotor retardation to death in infancy or early childhood. His lab played an integral role in defining the basic defects in Salla disease, sialuria and Infantile Free Sialic Acid Storage Disease. His lab remains the world's reference lab for the diagnosis of the latter two diseases.

In another area, Dr. Gahl and his colleagues possess more than 20 years of experience involving nephropathic cystinosis. After determining the basic defect in this rare, genetic disorder as impaired transport of the amino acid cystine within the cell, Dr. Gahl's lab went on to help demonstrate the safety and effectiveness of a pharmacological therapy for the kidney disease, growth retardation and vision-threatening corneal problems associated with cystinosis. The drug cysteamine, or beta-mercaptoethylamine, is now the treatment of choice for cystinosis and comes in two forms: oral administration, to prevent the accumulation of cystine in the kidney and other organs, and administration by eye drops, to dissolve the extremely irritating crystals of cystine that accumulate in the eye's cornea.

Born in Waukesha, Wis., Dr. Gahl received a B.S. in biochemistry from the Massachusetts Institute of Technology in 1972 and an M.D. from the University of Wisconsin Medical School in 1976. He received his Ph.D. from the Department of Oncology Research at the University of Wisconsin Graduate School in 1981. From 1976 to1980, he completed an internship, residency and chief residency in pediatrics at the University of Wisconsin Hospitals in Madison.

Dr. Gahl came to NIH in 1981 as a medical staff fellow in the highly competitive Inter-institute Medical Genetics Training Program. In 1984, he joined NICHD, where he later became chief of the Human Genetics Branch and chief of the Section on Human Biochemical Genetics, Heritable Disorders Branch.

Dr. Gahl, 52, is married to Mary E. Gahl. They live in Kensington, Md., and have four children.

A high-resolution portrait of Dr. Gahl is available at www.genome.gov/dmd/img.cfm?node=Photos/People/Gahl&id=79259.

NHGRI is one of the 27 institutes and centers at the National Institutes of Health, which is an agency of the Department of Health and Human Services (DHHS). The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at its Web site: www.genome.gov.

Geoff Spencer
Phone: (301) 402-0911

Last updated: July 31, 2012