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More on Molecular Genetics
- 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
Genetics
Molecular Genetics
Rudolph Leibel, MD
Director, Division of Molecular GeneticsThe Division of Molecular Genetics has material and personnel resources permitting the analysis of the genetic basis for monogenic or complex medical and physiological phenotypes in humans or rodents. Research activities are designed to approach 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.
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 (SNP detection, copy number analysis, and high throughput sequencing). 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.
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 recently been involved in efforts to analyze the genetic bases for patients with a wide variety of medical conditions including congenital heart disease, cardiomyopathies, arrhythmias, long QT Syndrome, diabetes, obesity, hypoglycemia, congenital diaphragmatic hernias, cleft lip/cleft palate, seizures, mental retardation, inherited metabolic conditions and breast and pancreatic cancer susceptibility.
The Division of Molecular Genetics includes investigators from the Departments of Pediatrics, Medicine, OB/Gyn, Biochemistry and Genetics and houses Core laboratories for the NIH Diabetes & Endocrinology Research Center (DERC), the New York Obesity Research Center (NYORC), and Clinical Genetics and Molecular Diagnostics.
The Division also co-administers research activities for the Naomi Berrie Diabetes Center. Hence, the Division actually operates across many scientific and administrative areas of the university.
