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Comprehensive Genetic Services for Research and Care

The Genetics Clinic offers personalized care and cutting-edge research for patients with various genetic disorders. With a diverse staff including physicians, counselors, and researchers, our clinic provides expert consultations and specialty services for conditions such as neurofibromatosis, PKU, and Marfan syndrome. Our clinical programs cover general genetics, lysosomal storage disorders, and newborn screening follow-up. We are dedicated to advancing genetic knowledge through research on natural history and treatment approaches. With a focus on faculty support and commitment to research, our goal is to expand our services and improve patient outcomes.

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Comprehensive Genetic Services for Research and Care

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  1. Current Staff (32) • 3 Physicians • 1 Cytogeneticist (Ex-Officio) • 1 Advanced Practice Nurse • 7½ Genetic Counselors • ½ Social Worker • 1 Educator/Research Coordinator • 2½ Research assistants • 3½ Administrators/Schedulers • 2 Dietitians • 10 Lab Technicians

  2. Clinical Programs • General Genetics Clinic, inpatient consultations, inpatient service • Specialty Clinics: • Neurofibromatosis (GAP, Ophthalmology) • Skeletal Dysplasia (Orthopedics, Radiology) • PKU • Marfan Syndrome (Cardiology) • Neurogenetics (Neurology) • 22q Deletion • Comprehensive Lysosomal Storage Disorders

  3. Clinical Programs • Newborn Screening Follow-Up • Diagnostic Laboratories • Biochemical Genetics • Cytogenetics There are now 8+ Genetics Clinics Each Week

  4. Research • Natural history of genetic disorders (neurofibromatosis, lysosomal storage disorders) • New approaches to treatment of genetic disorders (PKU, gene product replacement, pharmacologic chaperones) • 0.17 Faculty commitment to research

  5. Long Term Goals • Additional faculty with greater research activity

  6. CMRC Services Used • Clinical Research Unit • IRB, OSRP

  7. How Can CMRC Help • Faculty support!

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