There are many active research projects accessing and applying shared ADNI data. Use the search above to find specific research focuses on the active ADNI investigations. This information is requested annually as a requirement for data access.
| Principal Investigator | |
| Principal Investigator's Name: | You-Qiang Song |
| Institution: | The University of Hong Kong |
| Department: | Biomedical Sciences |
| Country: | |
| Proposed Analysis: | Objective The ADNI portal can help gain access to data from benchmark WGS and GWAS studies based on precious samples and high quality peer reviewed research. Several of the studies available through the portal have painstakingly accumulated and annotated data based on original samples. This data can help to speed up the research that is making good progress in our laboratory in the areas described below. Human genetics/Bioinformatics The main research in my laboratory is aimed at understanding the molecular basis of human complex diseases. These complex diseases are caused by the interaction between genes and environmental factors. We are mapping the disease gene's location in the genome and identifying novel genes through genomics screens and next-generation sequencing technologies. By pinpointing the responsible genes, we expect to acquire a better knowledge about the etiology of these so far poorly understood diseases, which in turn will allow more accurate diagnosis and more specific genetic counseling. In order to speed up study of human complex diseases, we are also interested in developing bioinformatic tools that incorporate biological function with statistical analysis. Alzheimer disease The molecular link between amyloid plaques and neurofibrillary tangles, the two pathological hallmarks of Alzheimer’s disease (AD), is still unclear. Our study in the Pax 6 gene has revealed an important finding that unite three facets of AD pathophysiology: amyloid, tauopathy, and specific aspects of neurodegeneration. Moreover, we were the first team to detect mutations in the MLKL gene in ApoE ɛ4-negative Alzheimer’s disease (AD) pateints. MLKL has an important inter-playing role between the Amyloid pathways and autophagy in AD. We are also interested in developing biomarkers for Alzheimer’s disease Immediate Uses of the Data We are conducting a bioinformatics based study on overlap between DNA repair hotspots and AD related genes. As part of this study, we need access to AD related haplotype data to verify our hypothesis regarding the role of BIN1 gene in AD. |
| Additional Investigators |
