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More on Research
- 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
- Genetic Services: When, Where, How
- How Chromosome Abnormalities Happen: Meiosis, Mitosis, Maternal Age, Environment
- Medical Genetics: Overview and Resources
- Medical History and Genetic Testing
- Mosaic Down Syndrome
- Mosaicism
- Multifactorial Inheritance
- Non-Traditional Inheritance
- Numerical Abnormalities: Overview of Trisomies and Monosomies
- 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
- The Difference Between a Chromosome Abnormality and a Single Gene Defect
- The Human Genome Project
- 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
Research
Morgan Stanley Children's Hospital of NewYork-Presbyterian is adding to the new reservoir of information through genetics research in a number of areas, including cystic fibrosis, familial cancer, diabetes, adrenal disorders, growth, and obesity.
Molecular and Human Genetics
Current research activities include efforts to identify genes (and relevant allelic variants) related to obesity and/or type 2 diabetes in mice and humans. The lab has particular interest in the molecular physiology of the energy homeostasis and glucose/insulin metabolism. The lab is expert in the use of naturally occurring and transgenic rodent models to identify candidate molecules, and in vetting these candidates in large numbers of human subjects using high throughput methods (DHPLC, fluorescence-based SNP detection). The lab shares responsibility with the Columbia Genome Center for the creation and maintenance of the Columbia University microarray facility (CUMAP), and has personnel expert in the relevant molecular and information science. We have Genome Systems/Affymetrix microarray platforms and readers and large cDNA clone collections for mouse, human and yeast.
Research is also focused on the molecular genetics of other human diseases, and the laboratory has the ability to work up virtually any phenotype at a molecular level. The laboratory has research programs to analyze the genetic bases for patients with a wide variety of presenting medical phenotypes including breast cancer, congenital heart disease, cardiomyopathies, arrhythmias, long QT Syndrome, hypoglycemia, seizures, and inherited metabolic conditions.
Clinical Genetics
Among the current genetic research projects at Morgan Stanley Children's Hospital are:
- a collaborative study with Columbia University School of Public Health regarding the ovary and its relationship to aneuploidy (one or a few chromosomes above or below the normal chromosome number);
- a collaborative study with the Department of Dermatology on the genetic basis of the rare Ambras syndrome, an excessive hair growth disorder;
- an analysis of structural chromosome aberrations induced by environmental pollutants;
- studies of the genetics of obesity and diabetes.
- a study to identify new genes for breast cancer
- a study of the cause of cardiomyopathy in children
- studies of the cause of congenital heart disease
- a study of genetic factors that lead to intrauterine growth restriction
There are also ongoing investigations into the genetic basis of congenital heart disease, cardiomyopathy, and long QT.
