Research in my laboratory is essentially genetics- and genomics-oriented. Our studies cover three broad areas, one in basic science (Principles of Genetics and Genomics), and two in applications of these principles to specific human complex diseases.


Principles of Genetics & Genomics:



Almost all of genetics has developed using powerful experimental systems; however, the intellectual challenge now is to understand the principles of inheritance and function in outbred organisms such as humans. We are interested in inventing, adapting and using contemporary genetic and genomic technologies to studying and understanding sequence variation and its meaning in the human genome. We are involved in a variety of experimental and computational technologies to quantify and understand human sequence variation.



Biology & Genetics of Nervous system disorders:



We are engaged in molecular genetic studies of two childhood disorders of the nervous system, one involving aganglionosis of the enteric nervous system (Hirschsprung disease) and the other involving neurodevelopmental deficits of the central nervous system (autism).


Hirschsprung Disease: A congenital anomaly (birth defect) of the bowel in which there is an absence of ganglia (nerves) in the wall of the bowel.  We are trying to understand how normal ganglionosis develops and which perturbations interrupt these processes.


Autism: A spectrum of neuropsychiatric disorders characterized by deficits in social interaction and communication, and unusual and repetitive behavior.  Most of the genetic defects here are presumed to be at the level of neuronal circuits.  Here also, we are trying to understand how normal circuitry develops and which perturbations interrupt these processes.



Biology of Cardiovascular disorders:



We are engaged in molecular genetic studies of two adult cardiovascular diseases with very different epidemiology and pathophysiology than the above nervous system disorders.  These, in turn, although genetically much more complicated, are some of the commonest traits and diseases of humans across the world.


Essential Hypertension: High blood pressure, defined as a repeatedly elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above 140 with a diastolic pressure above 90, is a modestly heritable physiological trait.  We are trying to understand the nature of genetic control of blood pressure through genetic analysis of hypertensives.



Sudden Cardiac Death: Sudden cardiac death (SCD) is an unexpected death due to cardiac causes occurring in a short time period in a person with known or unknown cardiac disease.  Many of such cases arise from genetic defects in heart rhythm; we are using genetic analysis of the QT interval to under this physiological process.

 

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