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Monogenic Disease Diagnosis Center for Neurological Disorders & Precision Medicine Research Center for Neurological Disorders

In order to improve the diagnosis, prevention and treatment levels of monogenic diseases, rare diseases, difficult and complex diseases of nervous system in China, the Monogenic Disease Diagnosis Center & Precision Medicine Research Center for Neurological Disorders was established in January 2016.
The main work of the Monogenic Disease Diagnosis Center & Precision Medicine Research Center for Neurological Disorders is focusing on the following aspects:
  1. Molecular diagnosis for the monogenic disease of neurological disorders, hereditary cerebrovascular diseases, as well as conducting related scientific researches.
  2. Molecular diagnosis and assessment of drug metabolism and adverse reactions for patients with cerebrovascular diseases, as well as performing pharmacogenomics studies.
  3. Research and development of gene/stem cell therapies for monogenic diseases.
The center is equipped with Illumina NextSeq 550 and Ion Torrent next-generation sequencing platforms, AB 3500Dx Sanger sequencing platform, real-time fluorescence quantitative PCR instrument, high-performance computing cluster, live cell imaging system, fluorescence microscope, electroporation system and other high-throughput equipment. Multiple work can be carried out, including genetic testing using Sanger sequencing and next-generation sequencing technologies, genomic data analysis and interpretation, gene function research and gene therapy development and so on.
Since the center was established, they have completed genetic testing for hundreds of patients who have hereditary cerebrovascular diseases and tens of thousands of scientific research samples. Moreover, they participated in the publications of professional books, including The Diagnostics of Nervous System Monogenic Diseases, The Diagnostic Manual of Hereditary Cerebrovascular Diseases (the first and second edition), and The Individualized Practical Operation manual of Precision Medicine And Drug Therapy. Furthermore, they have established a rapid detection technology of cerebrovascular diseases precision medicine genes, and completed the technology transfer. All the work provides the guidance and industry benchmark for the diagnosis and treatment of neural monogenetic diseases in China.

Associate Professor Wei Li
Ph.D. in neurobiology, Master’s supervisor, Associate professor and chief physician of Neurology in Beijing Tiantan Hospital, Capital Medical University.