Collaboration with Fudan University Huashan Hospital

Release time:2015-03-20

March 2015 – Co-authored by the department of Neuro Surgery at Fudan University Huashan Hospital, Shanghai Jiao Tong University Bio-X Center, and Genetron Health, an article discussing the genetic mechanisms of Cushing’s Syndrome was published in an international top journal Cell Research in March. Cushing's Syndrome is a series of clinical symptoms result from the excessive glucocorticoid level in the body due to adrenocorticotropic hormone over secretion. Its clinical manifestation affects multiple organs in the body. The mortality rate quadruples if it is left untreated. However, its genetic mechanism has remained largely unknown, which is important in developing a more effective treatment. The current study contains the largest number of samples ever collected and the most comprehensive genetic analyses. According to the study, patients suffering from Cushing’s syndrome commonly have mutations at the USP8 genetic locus, along with a high expression of EGFR, that ultimately lead to over-secretion of ACTH. Therefore, targeting USP8 may be a promising therapeutic option.


The team used whole exome sequencing to screen for mutations in 12 ACTH-secreting pituitary adenoma samples. They discovered mutations in the USP8 gene in 8 of the samples. Based on their preliminary discovery, they examined additional 258 adenoma samples for mutations in the USP8 gene and found that the USP8 gene is mutated in 62% of the ACTH-secreting pituitary adenoma. The study provides the first insight into the genetic pathogenesis of ACTH over-secretion. Through the collaboration with Huashan Hospital and Bio-X Center, a new characteristic genetic mutation for Cushing’s Syndrome was discovered, and it in turn demonstrated Genetron Health’s technological advantages in genetic data analysis.


Prof. Hai Yan shared his thoughts on the collaboration, 'Currently, the most efficient translational research model for cancer therapeutics is to start by looking for genetic mutations. Not only it will help us understand the molecular mechanisms of cancer pathogenesis, it will also facilitate clinicians to make an accurate diagnosis for the most effective treatment. The collaboration with Huashan Hospital is an example of this research model. It has provided a new molecular diagnostic tool and a potential therapeutic target for Cushing's syndrome. We believe that the result of our study will soon be validated and utilized clinically to benefit both patients and clinicians.'


CEO Sizhen Wang added, 'Through the successful collaboration with Huashan Hospital, Genetron Health has established close relationships with best hospitals in China in the field of neuro oncology. Followed by our first collaboration with Tiantan Hospital on glioma, which was published in Nature Genetics in 2014, the current study was also published in a top scientific journal. Genetron Health will continue to collaborate with top hospitals in China to take advantage of the large quantity of samples for research purposes. It will allow Genetron Health to further contribute to the translational research in cancer therapeutics in order to benefit every patient.'


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