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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.
Our board-certified genetic specialists diagnose and manage common genetic conditions and birth defects, as well as have experience in very rare diseases.
How to Refer to Pediatric Biochemical Genetics, CHOC, Orange County
Why is it important to do genetic testing during pregnancy? What types of genetic tests are there? Learn more about testing for genetic disorders while pregnant.
People with Ehlers-Danlos have a genetic defect in their connective tissue, which provides support to many body parts.
Dr. Virginia Kimonis specializes in genetics and clinical biochemical genetics. She treats kids and teens in Orange County.
Dr. Zadeh is a medical geneticist at CHOC and the associate director of the Molecular Diagnostic Laboratory at Genetics Center.
Dr. Touran Zadeh is the director of genetics services and the director of the cleft/craniofacial program at CHOC.
Dr. Maureen Bocian is a medical geneticist specializing in the diagnosis and management of genetic syndromes, and birth defects.
An expert geneticist for more than 20 years, Dr. J. Jay Gargus is a physician who treats kids and teens in Orange County and specializes in genetics.
Titus and Ely have what scientists call late infantile Batten disease, also known as CLN2. Dr. Raymond Wang has been working with the Bowmans at Children’s Hospital of Orange County (CHOC) in Orange, CA.
Genetic tests revealed a devastating rare condition called Niemann Pick C. The couple also learned there was no treatment for the disease.
Dr. June-Anne Gold MBBS is a physician who treats kids and teens in Orange County and specializes in genetics.
Dr. Cristel Chapel-Crespo is on staff at CHOC Hospital in Orange and treats kids and teens with metabolic disorders.
In Grand Rounds, Dr Chopra will educate other physicians and medical professionals on Chronic Pediatric Pain, especially in regards to Ehlers Danlos Syndrome.
Neurofibromatosis is a common genetic disorder. CHOC specialists have cared for children with NF for over 30 years.
CHOC and UCI Health have been jointly designated a National Organization for Rare Disorders (NORD) Rare Disease Center of Excellence.
CRISPR is a sort of “molecular scissors” that allows scientists to cut out and insert custom genetic code into DNA strands.
Learn about the types of neuronal ceroid lipofuscinoses (NCLs), such as Batten disease, symptoms and diagnosis from the experts at CHOC.
Randomized trial demonstrates whole-genome sequencing leads to precision care for critically ill infants
A randomized trial with CHOC and other children's hospitals shows clinical whole-genome sequencing (cWGS) outperforms usual care by two-fold.
Learning a child may have congenital heart defect (also referred to as congenital heart disease) is scary, and figuring out where that child will receive treatment for his or her condition can be one of the biggest decisions a parent can make.
The Fetal Care Center of Southern California brings together all the specialists needed to manage high-risk pregnancies.
Dystonia is a movement disorder that can affect children of all ages. Learn what it is, how it’s diagnosed and its symptoms, causes and treatment.
CHOC has the only cystic fibrosis center in Orange County for kids. We provide the best CF treatments so your child lives a long, healthy life.