Vietnam Academy of Science and Technology

Project's information

Project's title	Study of genetic variations in Vietnamese patients with familial exudative vitreoretinopathy (FEVR)
Project’s code	GUST.STS.ĐT2020-SH06
Research hosting institution	Graduate University of Science and Technology
Project leader’s name	Do Manh Hung
Project duration	01/09/2020 - 30/09/2022
Project’s budget	300 million VND
Classify	Excellent
Goal and objectives of the project	- Identification of FEVR-associated variants in the coding regions of the NDP, FZD4, LRP5, TSPAN12 and ZNF408 genes in patients diagnosed with FEVR and their family members. - A dataset of genetic mutations related to FEVR in Vietnamese people.
Main results	Theoretical results: - Clinical findings of Vietnamese patients diagnosed with FEVR. - A dataset of genetic mutations of Vietnamese patients with FEVR. Applied results: - The results contributes to accurate diagnosis and genetic counseling for families with a history of FEVR
Novelty and actuality and scientific meaningfulness of the results	The results contributes to the database of pathogenic/potential pathogenic mutations of FEVR genes in Vietnam and around the world.
Products of the project	- Scientific papers in referred journals: + 01 article published in a SCIE journal: Duong Thu Trang, Nguyen Minh Phu, Do Manh Hung, Vu Phuong Nhung, Nguyen Ngan Ha, Ma Thi Huyen Thuong, Tran Thi Bich Ngoc, Nguyen Xuan Hiep, Nguyen Dang Ton, Nong Van Hai, Nguyen Hai Ha. Whole exome sequencing revealed novel pathogenic mutations in Vietnamese patients with FEVR . 2022. Molecular Vision. Minor revision. + 01 article published in a national journal: Dương Thu Trang, Đỗ Mạnh Hưng, Nguyễn Hải Hà, Nguyễn Minh Phú, Phạm Minh Châu. 2022. Tổng quan về bệnh dịch kính - võng mạc xuất tiết có tính chất gia đình. Bản B của Tạp Chí Khoa học Và Công nghệ Việt Nam, 64(7). https://doi.org/10.31276/VJST.64(7).01-07 - Technological products: + 01 report on the results of the project, 01 summary report in Vietnamese and English + 20 clinical profiles of patiens diagnosed with FEVR + 01 dataset of pathogenic/potentially pathogenic variants causing FEVR in Vietnamese patients - Other products (if applicable): 01 Master.
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