About Us

Our Mission

Provide comprehensive local medical care,
integrate science and clinical medicine, and
share knowledge to improve the health of
children who suffer from genetic disorders.

 

Read more about the Clinic’s history and founders →

Work at the Clinic is focused on three major goals:

  1. Deliver effective and affordable diagnosis and comprehensive care for children with genetic conditions.
  2. Develop modern laboratory methods that serve the needs of patients and families.
  3. Expand the capability for clinical studies, education, and training in genetic medicine.

Our approach to the care of patients with genetic disorders has wide medical relevance. Although we find “new” genetic disorders in the Amish and Mennonite populations, these disorders are not unique to the Plain populations. They are typical of genetic problems found throughout the world, problems which our clinical and laboratory experiences help solve.

The Clinic is situated in the heart of Lancaster County, nestled between two Amish farms in Strasburg. The Clinic’s original timber frame building was “raised” in 1990 through generous contributions and volunteer community labor. An expansion was completed in 2001 to accommodate the growth of staff and services. Our staff includes two pediatric specialists and a PhD molecular geneticist.

The Clinic operates as an independent, non-profit organization governed by a board of directors and supported through fees for services,proceeds from annual community-sponsored benefit auctions, and private contributions from individuals, organizations, and foundations. We are a registered charitable organization in Pennsylvania and tax-exempt under IRS 501(c)(3), ID # 23-2555373. Two-thirds of the Clinic’s operating budget relies on charitable contributions from individuals and foundations.

Translational Medicine

The translation of genetic information into patient care begins with a commitment to care for the patient. Frances Peabody, in a lecture to Harvard Medical Students in 1927, concluded: “One of the essential qualities of the clinician is interest in humanity, for the secret of the care of the patient is in caring for the patient.” Our work at the Clinic for Special Children over the past 23 years has emphasized a commitment to caring for patients who have inherited disease. The humanitarian need for our work is apparent, but its scientific importance should not be underestimated. The identification of underlying mutations alone rarely provides insight into disease complications and their appropriate treatment. Indeed, many facets of genetic disorders only become known through clinical problem solving.

Single gene disorders give rise to disease by disrupting critical biological processes, such as metabolic adaptations to fasting and illness, cell volume control, brain amino acid homeostasis, and the regulation of brain growth and development. These processes change dynamically with age, and are influenced by nutritional and environmental exposures. This complex interplay—among genes, environment, physiology, and disease—is only apparent to scientists who work as physicians, and care for many patients with the same genetic disorder over long periods of time.

Clinical scientists develop a fundamentally different understanding of genetic disorders than those who study disease mechanisms in laboratory animals or cell cultures. It is often through the daily work of a physician caring for a patient that new opportunities for treatment are realized.

The every day practice of medicine is the true frontier of translational genetics. The medical care of children with genetic disorders is no different than the care of children with other complex medical problems, such as diabetes mellitus, depressive illness, rheumatoid arthritis, and cancer. As with the majority of diseases treated by physicians, there are few perfectly treatable genetic disorders. Nonetheless, improved understanding of disease mechanisms, combined with accessible and effective medical care, can often decrease suffering, improve function, and reduce dependency upon others. In short, we can otherwise limit the effect of a disease, genetic or acquired, upon the life of a patient. “Such is our work,” William Osler said. The understanding—the acceptance—that many common illnesses arise from a genetic predisposition, but are nonetheless treatable may ultimately be the most important contribution of the Plain communities and the Clinic for Special Children to translational genomic medicine.

Press: National News

Press: Magazine Feature Stories

  • Pittsburgh Magazine 8 Incredible Medical Stories. Joshua Mooney, May 1, 2013
  • HHMI Bulletin Teaching Genomics, Plainly. T. Gura, Fall 2012
  • Nature Genomics, Plain and Simple. T. Gura, February 29, 2012
  • Franklin & Marshall Magazine Field of Genes. E. Schoeniger, November 21, 2007
  • Pitt (University of Pittsburgh) Sweet odyssey. CJ Hayden, Spring 2006
  • Smithsonian Medical Sleuth. T Shachtman, February 2006
  • Pittsburgh Magazine Between science and faith. R Lord, February 2005
  • Mosaic (Trinity College) An innovative pediatrician in an insular community. L Virostek, November 2001
  • Current Science Mending genes. RS Ebersole, January 19, 2001
  • Franklin and Marshall On The Trail of a Once Deadly Disease. T Flannery, Autumn 2000
  • Pennsylvania Medicine Amish country doctor. F Baldwin, Summer 2000
  • Fortune Can Gene Therapy Cure This Child?. M Wadman, May 1, 2000
  • Central Pennsylvania Life Doctor to the Plain people. R Reitz, Winter 1998–1999
  • National Geographic Secrets of the gene. J Shreeve, October 1999
  • Time Magazine Special Issue: Heroes of Medicine. A dark inheritance. T Ulrich, Autumn 1997
  • Measure (Hewlett-Packard) Keeping the Faith. T Ulrich, March - April 1997
  • Contemporary Pediatrics A doctor whose most important teachers are children. J Asch-Goodkin, October 1996
  • Johns Hopkins Magazine A doctor who’s brought hope to the Plain people of Lancaster, Pennsylvania. M Hendricks, November 1994
  • Pediatric News In Amish country, some very satisfying, wonderful work. C Pierce, December 1993
  • Reader's Digest The doctor who conquered a killer. R Wolkomir and J Wolkomir, July 1991
  • Saturday Evening Post Tracking a killer. R Ver Berkmoes, June 1991
  • Harvard Medical Alumni Magazine Improved prognosis: Clinic raising in Amish country. T Rutter, Winter 1990 - 1991

Honors & Awards