The Truth About 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 Services

Our board-certified genetic specialists diagnose and manage common genetic conditions and birth defects, as well as have experience in very rare diseases.

Biochemical Genetics Referrals

How to Refer to Pediatric Biochemical Genetics, CHOC, Orange County

Genetic Testing During Pregnancy

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.

Genetic Counseling

What’s wrong with my daughter? A mom describes the misery of an elusive diagnosis

People with Ehlers-Danlos have a genetic defect in their connective tissue, which provides support to many body parts.

Kimonis, Virginia E. MD

Dr. Virginia Kimonis specializes in genetics and clinical biochemical genetics. She treats kids and teens in Orange County.

Zadeh, Neda MD

Dr. Zadeh is a medical geneticist at CHOC and the associate director of the Molecular Diagnostic Laboratory at Genetics Center.

Zadeh, Touran M. MD

Dr. Touran Zadeh is the director of genetics services and the director of the cleft/craniofacial program at CHOC.

Bocian, Maureen MD

Dr. Maureen Bocian is a medical geneticist specializing in the diagnosis and management of genetic syndromes, and birth defects.

Gargus, J. Jay MD

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.

Diamond Bar toddler fights rare disease with experimental drug

Genetic tests revealed a devastating rare condition called Niemann Pick C. The couple also learned there was no treatment for the disease.

Clinical trial that came too late for big brother offers hope for 3-year-old

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.

Gold, June-Anne MBBS

Dr. June-Anne Gold MBBS is a physician who treats kids and teens in Orange County and specializes in genetics.

Chapel-Crespo, Cristel C. MD

Dr. Cristel Chapel-Crespo is on staff at CHOC Hospital in Orange and treats kids and teens with metabolic disorders.

Connecting the Dots: Complex Pain In Children

In Grand Rounds, Dr Chopra will educate other physicians and medical professionals on Chronic Pediatric Pain, especially in regards to Ehlers Danlos Syndrome.

Neurofibromatosis Program

Neurofibromatosis is a common genetic disorder. CHOC specialists have cared for children with NF for over 30 years.

CHOC and UCI Health Join New NORD Rare Disease Centers of Excellence Network

CHOC and UCI Health have been jointly designated a National Organization for Rare Disorders (NORD) Rare Disease Center of Excellence.

Neuronal Ceroid Lipofuscinoses (NCL)

Learn about the types of neuronal ceroid lipofuscinoses (NCLs), such as Batten disease, symptoms and diagnosis from the experts at CHOC.

Scientists use CRISPR gene editing inside a person’s body: Why that’s significant

CRISPR is a sort of “molecular scissors” that allows scientists to cut out and insert custom genetic code into DNA strands.

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.

Congenital Heart Defects

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.

Our Team of Maternal-Fetal Medicine and Pediatric Specialists

The Fetal Care Center of Southern California brings together all the specialists needed to manage high-risk pregnancies.

Dystonia: What It Is, Symptoms, Types and Treatment

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.

Blood Tests and Your Child’s Heart

Children may have blood tests to help their doctor evaluate their illness, or to help monitor their health after surgery.