THE FIELD OF MEDICAL GENETICS
Medical genetics involves the study of inherited diseases. The field includes genetic counseling and testing, and their application to patient care in the practice of medicine. Genetic factors play a role in causing certain diseases, birth defects or an inherited predisposition to a health problem, says Dr. Neda Zadeh, CHOC medical geneticist. “It’s one of the most rapidly advancing areas of medicine,” she says of the field of medical genetics.
GENETIC OR INHERITED DISEASES AND CONDITIONS
“Genetic disorders overall make up a huge number of hospital admissions nationwide, about 20 to 40 percent. Most likely that number will get bigger as our knowledge expands,” says Dr. Zadeh. She placed genetic conditions into three main categories: chromosome abnormalities such as Down syndrome; single-gene disorders like cystic fibrosis; and multifactorial disorders in which there is a combination of both genetic and environmental factors.
GENETIC TESTING
Genetic testing is the analysis of chromosomes, DNA and other cellular components to find the cause of a genetic disorder, says Dr. Zadeh. “Genetic testing is used in making a diagnosis and providing the patient and family with more information about the disease process, if treatments are available, and what to expect. It also provides information about inheritance and the risk for future pregnancies.” Exome sequencing and whole genome sequencing are newer types of genetic testing that are very helpful in identifying rare genetic conditions, says Dr. Zadeh.
Dr. Neda Zadeh is a medical geneticist in the division of genetics at CHOC and the associate director of the Molecular Diagnostic Laboratory at Genetics Center. She specializes in diagnosing and caring for patients with genetic syndromes and birth defects. Some of her interests include muscular dystrophies, familial Mediterranean fever, genetic nerve and skin conditions, and the advancement of molecular genetic testing in the clinical diagnostic laboratory setting. Dr. Zadeh joined the CHOC medical staff after completing her pediatric residency at CHOC, her clinical genetics fellowship at Stanford University and a clinical molecular genetics fellowship at UCLA.
Dr. Zadeh’s philosophy of care: “I have a passion for both clinical and molecular genetics and I am dedicated to providing care for my patients and their families.”
EDUCATION
Medical degree from UCLA School of Medicine
Genetics training from Stanford University
BOARD CERTIFICATIONS
Clinical Genetics
Clinical Molecular Genetics
Pediatrics
Advances in medicine have allowed doctors to diagnose birth defects and genetic conditions before a baby is born.
Pregnant women older than 35, those with a history of miscarriages or health problems, and women with a family history of certain disorders or birth defects are often tested for birth defects, says Dr. Irfan Ahmad, a CHOC Children’s neonatologist.
Dr. Neda Zadeh has a special nickname for her mentor at CHOC Children’s: Mom.
She and her mother, Dr. Touran Zadeh, are among CHOC’s medical geneticists, working together to treat children with developmental disabilities, congenital abnormalities, birth defects and genetic disorders.
A genetic counselor is a medical professional and a patient advocate who is trained to counsel families about genetic diagnoses and their implications, a CHOC Children’s medical geneticist says.
Genetic counselors can determine the risk of a genetic disorder to other family members in future pregnancies, and they provide comprehensive information, education and resources about that particular diagnosis. They do so by examining a family’s medical history and working with other specialists to aid in making a diagnosis, says Dr. Neda Zadeh.
Dyslexia
Dyslexia is a fancy word for a developmental reading disability. It’s quite common and it has nothing to do with intelligence. There is a misperception that children with dyslexia see things backwards.
Birth Defects
Common birth defects include: heart defects, cleft lip, cleft palate, Down syndrome and spina bifida. Congenital heart defects are the most common in the U.S.
Kids and Autism
Autism spectrum disorders are typically diagnosed in toddlers or young children based on certain behavioral patterns; there is no medical diagnostic test.
