Mission: To enhance the quality of life for special needs people with metabolic and inherited disorders through early diagnosis and treatment, research, and education.
Programs: We serve patients with complex medical needs, closely following the american academy of pediatrics (aap) model for a medical home. We provide care that is accessible, continuous, comprehensive, family-centered, coordinated, compassionate and culturally effective. We provide medical services for children with over 70 different rare diseases; we are recognized as a leading international medical facility for such complex disorders as prolidase deficiency, cohen syndrome , ganglioside gm3 synthase deficiency, glucose-galactose malabsorption, tmco1 defect syndrome and sams association. In addition, we help families with (continued on schedule o) medical supplies and nutrition needs through a patient assistance program and we coordinate on-site sub-specialty services with outside institutions.
patient-oriented research allows us to focus on early diagnosis and groundbreaking treatment, bringing relief to children and hope to their families. This is often referred to as "translational" research because what we learn is translated immediately to patient care. We are considered a foremost resource to other doctors who have similarly affected patients. Our molecular diagnostics laboratory offers state-of-the-art genetic testing for hundreds of genetic disorders. The lab was developed in 2005 to support translational research and personalized medicine for patients. In 2012, with a growing number of requests by clinicians across the country looking for high-quality (continued on schedule o)and affordable testing services for rare genetic conditions, our lab sought and earned certification by the clinical laboratory improvement amendments (clia). Our tests include dna sequence analysis via sanger sequencing and next-generation sequencing (ngs), as well as dna copy number variation analysis by chromosomal microarray.
we partner with families, the community and medical professionals to empower them with knowledge; extensive outreach to families and medical professionals has increased awareness of risk factors and disease processes leading to earlier diagnosis and better plans of care. We offer family support services including genetic counseling, disorder-specific family gatherings, and mothers support groups. We collaborate with local, national and international medical communities, sharing knowledge with prominent physicians and research scientists around the world through papers published in prestigious journals such as the proceedings of the (continued on schedule o)national academy of sciences, nature genetics and the american journal of medical genetics.