Health Information
Return to Medical Genetics Overview
More on Medical Genetics
- Autosomal Dominant: Marfan Syndrome
- Autosomal Recessive: Cystic Fibrosis, Sickle Cell Anemia, Tay Sachs Disease
- Before Your Next Pregnancy
- Biochemical Genetic Testing
- Chance a Chromosome Abnormality Will Occur Again: Numerical, Structural (Inherited and De Novo), Mosaicism
- Chromosome Abnormalities
- Chromosome Studies: Karyotype, Extended Banding, Fluorescence In Situ Hybridization (FISH), and Chromosomal Microarray Analysis
- Evaluating a Child for Birth Defects
- Examples of Non-Teratogenic Agents
- Examples of Teratogens
- Fetal Alcohol Syndrome
- Genetic Disorders Associated with Congenital Heart Disease
- Genetic Services: When, Where, How
- How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
- Identification, Treatment, and Prevention of Birth Defects
- Medical Genetics: Overview and Resources
- Medical History and Genetic Testing
- Mitochondrial Inheritance: Leber's Optic Atrophy
- Mosaic Down Syndrome
- Mosaicism
- Multifactorial Inheritance
- Non-Traditional Inheritance
- Numerical Abnormalities: Overview of Trisomies and Monosomies
- Other Arrangements: Rings and Inversions
- Overview of Birth Defects
- Overview of Chromosome Abnormalities
- Overview of Single Gene Defects
- Single Gene Defects
- Structural Abnormalities: Deletions (Cri du Chat) and Duplications (Pallister Killian)
- Studies for Single Gene Defects: DNA (Direct and Indirect)
- Support Groups
- Teratogens
- Testing for Birth Defects
- The Difference Between a Chromosome Abnormality and a Single Gene Defect
- The Human Genome Project
- Translocation Down Syndrome
- Translocations
- Trinucleotide Repeats: Fragile-X Syndrome
- Types of Chromosome Abnormalities
- Uniparental Disomy: Prader-Willi Syndrome, Angelman Syndrome
- Uses of Genetic Testing
- Vitamin, Gene, and Enzyme Replacement Therapy
- When to Seek Genetic Counseling
- X-linked Agammaglobulinemia
- X-linked Dominant: Incontinentia Pigmenti
- X-linked Recessive: Red-Green Color Blindness, Hemophilia A
Medical Genetics
Wendy K. Chung, MD, PhD
Director, Division of Clinical GeneticsDiscoveries in genetic science are causing important changes in medicine. As more is uncovered about the genetic basis for many diseases, genetic diagnosis and counseling become increasingly important for families.
Genetic testing can now be performed for over 1,000 disorders, including hemophilia, cystic fibrosis, sickle cell anemia and Tay-Sachs disease. Genetic testing can help to make a definitive diagnosis in a child, as well as predict the risk of recurrence to a future child or other family member. Genetic testing is available for parents who have a history of an inherited disease, if the mother is older and therefore at greater risk of having a baby with chromosomal problems, as well as for women who have been exposed to radiation or certain chemicals that may put their fetus at risk for abnormalities. We have programs in early prenatal diagnosis, pre-implantation, genetic diagnosis, and assisted reproductive technology to give couples multiple options for having children free of a genetic condition. When therapy is indicated for a fetus, with the prenatal pediatric center we will manage the condition medically or can treat the fetus in utero using minimally invasive procedures.
Clinical Genetics
The Division of Clinical Genetics provides clinical evaluation and risk assessment, genetic counseling and genetic testing for a variety of genetic conditions. The Division works seamlessly with obstetrician/geneticists and perinatologists to provide services for families who are concerned about their genetic status, particularly if they are contemplating a pregnancy. For patients planning their families, we provide reproductive options for having healthy children including prenatal diagnosis and pre-implantation genetic diagnosis.
We also provide ongoing care for patients with genetic conditions, coordinate multidisciplinary care for patients, and help patients access resources related to their condition. We treat genetic conditions with bone marrow, liver, or cardiac transplant, enzyme replacement therapy, diet modification for certain metabolic disorders. The Clinical Genetics programs serve as the clinical coordinators for children with rare genetic disorders that require multiple subspecialists. When appropriate, we identify research studies for which patients may qualify to understand their condition better or provide additional therapeutic options. We have specialized programs in several areas listed below.
Prenatal Genetics
- Non-invasive integrated screening for Down syndrome
- Carrier screening for common genetic conditions such as sickle cell disease, Tay Sachs disease, and cystic fibrosis
- Pre-conception counseling
- Prenatal diagnosis of genetic conditions
- Chorionic villus sampling
- Amniocentesis
- Counseling for complex fetal chromosomal abnormalities
- Prenatal pediatric care coordination for fetuses with birth defects or known genetic conditions
- Pre-implantation genetic diagnostic program for genetic conditions
Pediatric Genetics
- Dysmorphology
- Birth defects
- Growth problems
- Delay in development
- Chromosomal disorders (Down syndrome, Klinefelter syndrome, Turner syndrome)
- Cystic fibrosis
- Sickle cell disease and thalassemia
- Craniofacial disorders
- Marfan syndrome
- Neurofibromatosis
- Tuberous sclerosis
- Di George syndrome
- Fragile X
- Osteogenesis imperfecta
- Inherited skin (dermatological) disorders
- Inherited liver disorders
- Endocrine genetics including specialized programs in diabetes and obesity
- Metabolic disorders / inborn errors of metabolism
- Muscular dystrophy
- Mitochondrial disorders
- Spinal muscular atrophy
- Seizures
- Deafness
- Cardiomyopathies
- Congenital heart disease
- Inherited arrhythmias and long QT syndrome
Adult Risk Assessment
- Cancer including breast, ovarian, colon, endometrial, renal (kidney) cancer, and melanoma
- Von Hippel Lindau Disease
- Cardiomyopathy
- Inherited arrhythmias and long QT syndrome
- Huntington disease, muscular dystrophy, amyotrophic lateral sclerosis, myotonic dystrophy
- Dementia
- Diabetes
- Hemochromatosis
Molecular and Human Genetics
The Division of Molecular Genetics is dedicated to the study of human genetics. We currently have ongoing studies in congenital heart disease, cardiomyopathies, lung QT syndtrome, breast cancer, and spinal muscular atrophy. Intensive research activities are also focused on the biology of energy homeostasis and type 2 diabetes mellitus on a broad investigative front in both humans and rodents. However, we are interested in molecular genetic analysis of human subjects with unusual and/or potentially revealing medical or physiological phenotypes, and have provided relevant consultation to a growing number of investigators throughout the institution and beyond. The laboratory is also the Molecular Biology Core laboratory of the New York Obesity Research Center and the Columbia University Diabetes and Endocrinology Research Center.
Contact
- Molecular and Human Genetics
- (212) 305-6731
