The Manton Center for Orphan Disease Research
David Clapham, MD, PhD
David Clapham, MD, PhD, is an authority on the role of calcium as an intracellular messenger and on the ion channels that control heart rhythm, nerve activity, fertilization and secretion. Recognizing the strong link in his research between basic research discoveries and improved treatments, Dr. Clapham was appointed a Howard Hughes Medical Institute (HHMI) investigator. He is the recipient of other awards and honors including the Cole Award, the American Heart Association Basic Research Prize, and the Bristol-Myers Squibb Award for Distinguished Achievement in Cardiovascular Research. In 2000 he was elected to the American Academy of Arts and Sciences, and in 2006, to the National Academy of Sciences.
How many calcium ions (Ca2+) are admitted into a cell has dramatic consequences for a wide range of cell functions, from brain synapses to muscle control. Identifying and characterizing the genes that control aspects of ion channel functioning could enable scientists to develop drugs to alleviate a number of rare and common childhood diseases. Ion channels make good targets for drug therapy because they are accessible within the cell. Because ion channel disorders can affect so many functions within the body, advances in research can have many applications, including the following disorders:
- Long QT syndrome, an inherited rhythm disorder of the heart characterized by fast, chaotic heartbeats that may lead to fainting - and in some cases, cardiac arrest and possibly sudden death.
- Mucolipidosis type IV, an inherited metabolic disease that can lead to severe neurological impairment and death.
- Pulmonary artery hypertension, a dangerous condition that creates continuous pressure in the main artery leading to the lungs, resulting in constricted blood flow.
- Smoke-induced asthma, a subset of asthma that is a significant health risk to children.
- Focal segmental glomerular sclerosis (FSGS), a degenerative kidney disease.
- Hyperthermia, a potentially fatal disorder characterized by high fevers when a child is exposed to certain drugs or anesthesia.