Division of Medical Genetics
Established three decades ago, the primary mission of the UCMG physicians within the Division of Medical Genetics is to provide cutting-edge diagnosis, treatment and laboratory services for children with complex genetic diseases all in a friendly, comfortable setting. For those diseases that are yet untreatable, the physician's goal is to educate family members about the child's prognosis, potential complications that may arise, available palliative therapy, the child's expected life span, the likelihood that another pregnancy will produce a child with similar impairment and the availability of prenatal diagnosis for those parents who plan to have additional children. Division staff include highly specialized physicians, researchers, nurses, genetic counselors, social workers, psychologists and nutritionists.
Description of Programs and Services
- Prenatal Diagnosis Program
The Prenatal Diagnosis Program team of geneticists, obstetricians, genetic counselors and nurses provides complete prenatal diagnostic evaluations and counseling for families at risk for genetic disorders and birth defects. Mothers whose unborn babies are identified as at-risk through the state of California's Alpha Fetal Protein (AFP) Screening Program are referred to this program. The program offers the most sophisticated diagnostic studies available including high-resolution fetal ultrasound, fetal echocardiography and amniocentesis.
- Clinical Genetics Program
UCMG physicians provide complete pediatric and adult diagnostic evaluations for patients and families affected by birth defects, mental retardation, developmental impairment, metabolic and storage disorders, connective tissue disorders, neurologic disorders and other genetic conditions. Special programs provide a multidisciplinary approach to complex disorders including inherited disorders of metabolism, lysosomal storage disorders, neurofibromatosis, cleft lip and palate and other craniofacial disorders, Down Syndrome, osteogenesis imperfecta and birth defects. Physicians provide diagnosis of genetic as well as chance abnormalities, information about associated problems and information about recurrence risk and the availability of prenatal diagnosis. For those diagnoses that respond to specific therapy, particularly "metabolic" diseases, ongoing treatment and medical management are available.
- Biochemical Genetics Laboratory
The biochemical genetics laboratory provides complete diagnostic services for patients affected by or suspected to have disorders of amino acid metabolism, organic acid metabolism, urea cycle metabolism, carbohydrate metabolism and lysosomal storage. The laboratory and clinical staff are available to help the referring physician order the appropriate studies and interpret the findings, in addition to reporting results. The lab analyzes between 12,000 and 14,000 patient samples per year, many of them from outside the United States, and is one of the largest of its kind in the country.
- Molecular Genetics Laboratory
The molecular genetics laboratory provides the latest techniques for prenatal diagnosis of genetic disorders untilizing molecular genetic (DNA) studies. Such studies are currently available for families affected by inherited diseases, including PKU, Duchenne Muscular Dystrophy and Cystic Fibrosis. The molecular genetics lab evaluates an estimated 1,200 samples per year, including half of the mitochondrial samples in the U.S.
- Cytogenetics Laboratory
The cytogenetics laboratory provides routine blood chromosome studies as well as prenatal diagnostic studies on amniotic fluid and chorionic villus specimens with a priority on rapid turn-around time. Specialized testing also is provided for such investigations as fragile X, high-resolution prophase studies, chromosomal breakage and tumor studies. A variety of tissue samples can be sent for chromosomal evaluation including blood, fetal tissue, skin, bone marrow aspirates and tumor specimens.
- Maternal Phenylketonuria
Researchers in the Division coordinate the International Collaborative Study on Maternal Phenylketonuria (PKU). Since the study's inception in 1985, investigators have changed the standard of care for this disease by demonstrating that female PKU patients who are off their specially prescribed diets are at high risk of delivering retarded babies with serious heart defects. Successful dietary treatment during pregnency helps result in healthy infants.
- Newborn Screening Program
The Division serves as a Genetics Center covering portions of Los Angeles for the state Newborn Screening Program. Abnormal test results for various diseases are communicated to the newborn's physician, enabling Division physicians to offer treatment and genetic counseling to those families.
- Metabolic and Genetic Diseases
The Division serves as a certified California Childrens Services Center (CCS) for metabolic and genetic diseases. Any child who is diagnosed with a disease that falls into one of those two categories may receive treatment at CHLA as a CCS patient.
- Julian C. Williams, M.D., Division Head
- Richard G. Boles, M.D.
- Linda S. Cowan, M.D.
- Shirley R. Korula, M.D.
- Shoji Yano, M.D.
HOW TO CONTACT US
The Division of Medical Genetics welcomes your inquiries. To contact us you can:
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| Call the Division directly at | (323) 669-2178 | |
Write to us at |
Division of Medical Genetics Childrens Hospital Los Angeles 4650 Sunset Blvd., #90 Los Angeles, CA 90027-6062 |
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Physicians who wish to contact a faculty member, consult about a patient or refer a patient can also call 1-800-ASK-PACE (1-800-275-7223). Please note, this service is for physicians ONLY. |
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