The Clinic for Special Children

1. The Clinic for Special Children Where compassion, care, and bioinformatics result in cutting edge translational medicine

2. Nestled amid the Amish and Mennonite farms in the bucolic countryside of Lancaster County, Pennsylvania is The Clinic for Special Children, a cutting edge medical clinic where staff use a unique combination of medicine and bioinformatics to provide comprehensive medical care for children with chronic, complex medical problems due to inherited disorders.

3. The clinic’s work has four aims: • Make medical care for special children accessible, affordable, and culturally acceptable. • Identify genetic causes of childhood disability and death within Plain communities. • Use state-of-the-art technologies to improve the accuracy and economy of diagnosis. • Use pre-symptomatic diagnosis and preventative therapy to improve child health and reduce medical costs.

4. Who are Plain people? • Christian groups who practice simple living, are generally separated from typical modern life, and wear plain dress • Includes Amish, Mennonite, and others • Have a utilitarian approachto modern technology • Ordnung- unwritten code of behavior, including clothing,vehicles, and the use of technology – varies from congregation to congregation

5. Why do Plain people have high rates of rare genetic disorders? • Founder effect – a new population, formed from only a limited number of individuals, can result in a loss of genetic variation. • Young people must marry within their religion • Not a high rate of entry into the religious groups from outside • Population from which to choose a spouse is limited, and therefore the gene pool is limited. • There is an increased chance that two parents will carry recessive alleles (be carriers) that will result in autosomal recessive disorders in their children.

6. What are the impacts of genetic disorders? • 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. • Some disorders are fatal, while many others are treatable.

7. What are some of the disorders treated at the Clinic? • The Clinic screens and treats children for 80 genetic disorders, including: • Maple Syrup Urine Disease – the Clinic developed a treatment for this previously fatal disorder • Glutaricaciduria • Crigler-Najjarsyndrome • Medium-chain acyl-CoA dehydrogenase deficiency • And many, many more!

8. What is the Clinic’s approach to medicine? • The Clinic combines traditional medical approaches with cutting age genetics, genomics, and bioinformatics • The Clinic has a research laboratory as part of it’s building, making genetic screening easier and cheaper. • Real-time PCR • Microarray • Bioinformatics databases: OMIM, BLAST and others

9. What is a clinical scientist? • A clinical scientist is a scientist who works as a physician. • Clinical scientists develop a fundamentally different understanding of genetic disorders than those who study disease mechanisms in laboratory animals or cell cultures. • A person who cares for many patients with the same genetic disorder over long periods of time can better understand the complex interplay among genes, environment, physiology, and disease. • It is often through the daily work of a physician caring for a patient that new opportunities for treatment are realized.

10. “Special children are not just interesting medical problems, subjects of grants and research. Nor should they be called burdens to their families and communities. They are children who need our help, and if we allow them to, they will teach us compassion. They are children who need our help, and if we allow them to, they will teach us love. If we come to know these children as we should, they will make us better scientists, better physicians, and thoughtful people.” -- D. Holmes Morton, Through My Window (Pediatrics 1994;6: 785).