Research Title: Neurodevelopmental Disorders
- Identification of inherited gene mutations
- Neurodevelopmental disorders
- X-chromosome inactivation and autoimmunity
- Genetic predisposition to cancer
Since our discovery of the genes that lead to Prader-Willi syndrome (PWS), hereditary sensory neuropathy (CMT1A), and glycogen storage disorder (GSD9A1) in humans 25 years ago, the primary objective of our research group has been the molecular characterization of inherited disorders. Through the extensive use of genetic mapping in our studies, we were able to identify the genes for hereditary leukemia (MLH1 deficiency), Üner Tan syndrome (CAMRQ1,2,3), Parkinson's disease (PD), essential tremors (ET) and delayed sleep phase disorder (DSPD).
However, there remain many diseases for which the causal gene mutation is not known. Especially complex diseases such as obesity, neurodegeneration, metabolic disorders, diabetes, autoimmunity, psychiatric & behavioral phenotypes. One major reason that many diseases remain unsolved at the genetic level is that the inheritance patterns of human diseases are not fully understood and analysis of human genome is not straightforward. It is therefore necessary to undertake innovative approaches that addresses the mysteries that remain between the genetic and phenotypic characteristics of humans.
We have returned our focus to a fundamental level, namely Mendelian inheritance laws, and are now examining the role of zygosity in consanguinenous families, considering not only transmission signatures and searching for the whereabouts of mutations, but also take into account the timing of their emergence. To this end, we draw on the vast body of genetic knowledge that is available through cutting-edge genome sequencing projects and propose a novel approach termed "reverse phenotyping" to uncover the determinants of complex diseases.
Research Keywords: Human Genetics, Hereditary Disorders, Neurodegenerative Diseases
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