Pediatric Genetics & Inherited Disorders

A baby smiling while the mom talks to a doctor

Genetics & Inherited Disorders

In the near future, all children with serious disorders will benefit from genetic analysis. Virtually every disease is the result of genetic and environmental interactions—and we learn a great deal about the course and treatment of an illness once the relevant genes are identified.

Clinical genetics at ColumbiaDoctors is comprised of highly trained and world-renowned physicians and researchers who are committed to the proper diagnosis and treatment of children and families with complex genetic problems and birth defects. Our pediatric geneticists and inherited disease experts have produced many new insights in this field, as we treat children with disorders that have a genetic cause, including Down syndrome, Turner syndrome, early onset cystic fibrosis, sickle cell disease, and amino acid disorders.

ColumbiaDoctors clinical geneticists provide clinical evaluation, risk assessment, genetic counseling and genetic testing for a wide variety of genetic conditions. Examples are infants and children with complex birth defects, chromosome abnormalities, developmental delays, autism, skin disorders, skeletal dysplasia, craniofacial malformations, ocular abnormalities, and hearing loss.When appropriate, we identify research studies for which patients may qualify to understand their condition better or provide additional therapeutic options.


We also provide evaluation and testing of adults with genetic disorders as well as well as pregnant women with fetal anomalies. Our pediatric geneticists also play a strong role in Maternal Fetal Medicine (MFM), diagnosing many inherited conditions before a child is even born.

Our experts on inherited diseases are among the best in the nation, performing clinical evaluation and risk assessment, genetic counseling and testing for a variety of conditions. We also provide ongoing care for children with genetic or suspected conditions, along with supporting their families, in close collaboration with other medical disciplines.

  • Our comprehensive Program for Inherited Metabolic Disorders (IMD) provides state-of-the-art, care for children and their families with problems transforming food into fuel—the basic metabolic actions needed to keep the body alive.
  • We provide genetic evaluation and testing of children with cardiomyopathies and provide counseling to the parents. We are the core laboratory for the Pediatric Heart Network, working to identify the genetic factors affecting congenital heart disease. The group is investigating the frequency and types of mutations associated with cardiomyopathy, arrhythmias, and pulmonary hypertension, and identifying genes that influence their progression.
  • Women with or at risk for breast and ovarian cancer, colon cancer, and other types of cancers are also referred for counseling, risk assessment, and testing.
  • With the Pediatric Neuromuscular Clinical Research Network, we are looking at specific biomarkers that may help us treat children with spinal muscular atrophy.
  • For patients planning their families, we provide reproductive options for having healthy children. We have specialized programs in several areas.
  • Our specialists in molecular genetics also collaborate with the New York Obesity Research Center and with the Columbia Diabetes Research Center to understand the underlying causes of these increasingly common, yet hard to manage, conditions.
  • At Columbia University's Institute for Cancer Genetics, we perform genetic sequencing for all pediatric cancer patients free of charge. Founded in 1999 to study the evolution of cancer on the molecular level, the Institute focuses on protein interactions along with DNA damage and repair, and experimental cancer therapies.
  • We provide genetic evaluation and testing of children and adults with hereditary hemorrhagic telangiectasia (HHT), and their families, who are patients at Columbia’s HHT Center for Excellence

Some of the conditions we treat are:

  • Infants and children with congenital malformations
  • Autism
  • Cognitive impairment in children and adults
  • Congenital malformation in pregnancy
  • Genetic basis of obesity and diabetes
  • Metabolic and endocrine genetic disease
  • Congenital heart disease, cardiomyopathies, and inherited arrhythmias
  • Congenital diaphragmatic hernia
  • Breast and ovarian cancer susceptibility
  • Cancer syndromes including Von Hippel-Lindau Disease
  • Spinal muscular atrophy
  • Inborn Errors of Intermediate Metabolism
  • Phenylketonuria
  • Neurogenetics
  • Errors of embryonic development
  • Inborn errors of metabolism/inherited metabolic diseases
  • PKU/Hyperphenylalaninemia & Urea Cycle Disorders
  • Newborn Screening Follow-up