Genomic Medicine Clinics
The Metabolic Clinic at UC Davis Medical Center provides comprehensive diagnostic, evaluation, and management services for patients with inborn errors of metabolism, from birth throughout adulthood. Inborn errors of metabolism are genetic conditions characterized by problems converting food into energy, usually due to deficiency of an enzyme. Treatment often includes strict dietary management, and may include special emergency treatment in case of illness. Regular providers in this clinic include Madelena Martin, MD, biochemical geneticist; Staci Collins, RD, CNSC, dietitian and Vincent Fong, LCSW, social worker. For more information on the Metabolic Clinic, please call 916-703-0300.
UC Davis Medical Center provides diagnostic, evaluation, management, and treatment services for patients diagnosed with rare Lysosomal Storage Diseases such as Pompe, Fabry, Gaucher, Hurler’s, Hurler-Scheie Syndrome, Hunter, and Maroteaux-Lamy syndrome. Lysosomal storage disorders (LSDs) are inherited metabolic conditions characterized by an abnormal build-up of various toxic materials in the body’s cells, as a result of enzyme deficiencies. Over time, excessive amounts of the toxic materials accumulate and cause damage to the involved systems and organs in the body.
Enzyme Replacement Therapy (ERT) is a treatment option for those affected with certain types of LSDs and is available at UC Davis Medical Center, coordinated by the Enzyme Replacement Therapy Program team. For information on the ERT Program, please call 916-703-0300.
Other LSD Resources Available:
Precision Genomics Clinic
The goal of precision genomics clinic is to provide answers for individuals and families with rare genetic conditions that are going through diagnostic Odyssey. Patients with a wide range of developmental and degenerative conditions from childhood to adults are seen in the clinic. This clinic will serve as a patient base for discovery and translational science. We will use the existing clinical data as well as identify new patients to establish biobank linked to patient data. We will study our unique patient population for gene discovery projects as well as be prepared to be a center for clinical trials. The precision genomics clinic will serve as the second tier for individuals with an unknown diagnosis if the first tier tests for known disease-causing genes have been negative or inconclusive. This will serve as our discovery cohort for whole genome study in families or cohorts of individuals with similar phenotype.
Ocular Genomics Clinic
The goal of this program is to provide genetic services to individuals with inherited eye diseases. We are interested in helping individuals and families obtain precise diagnosis by identifying the underlying cause of their genetic conditions, understand the inheritance pattern and learn about options for potential future treatments. We would like to establish means to promote translational research with an ultimate goal of preserving vision and preventing blindness. Some examples of genetic conditions seen in this clinic include anophthalmia, microphthalmia, glaucoma, inherited retinal diseases such as retinitis pigmentosa, Leber congenital amaurosis, and, macular dystrophies.
TeleGenomics Clinic The TeleGenomics program, in collaboration with the Center for Health Technology (CHT), provides clinical genomic medicine evaluations and genetic counseling to pediatric and adult individuals and their families who reside in locations where access to genetic and genomic medicine services are limited. Using state-of-the-art telehealth technology such as live videoconferencing, patients and their families can meet real-time with their genomic medicine providers from the comfort and familiarity of their primary care provider’s office. This newer service delivery model greatly reduces wait time for appointments, travel time and cost, and overall carbon footprint on the environment.