Vietnam Academy of Science and Technology

Project's information

Project's title	Identification of pathogenic mutations and development of molecular diagnostic for Vietnamese patients with iris malformation and retinoblastoma
Project’s code	VAST02.01/19-20
Research hosting institution	Institute of Genome Research
Project leader’s name	Nguyen Hai Ha
Project duration	01/01/2019 - 31/12/2021
Project’s budget	600 million VND
Classify	Excellent
Goal and objectives of the project	- Detect pathogenic mutations causing iris malformation and retinoblastoma in Vienamese patients. - Develop genetic diagnosis methods that detect iris malformation and retinoblastoma in Vietnam.
Main results	*Theoretical results:* - A dataset of small nucleotide polymorphisms & mutations and large deletion/duplication mutations of PAX6 gene & downstream regions of PAX6 gene of Vietnamese patients with iris malformation. - A dataset of small nucleotide polymorphisms & mutations and large deletion/duplication mutations of RB1 gene of Vietnamese patients with retinoblastoma. Applied results: - Develop an effective and rapid genetic diagnosis method that detects iris malformation in Vietnam. - Develop an effective and rapid genetic diagnosis method that detects retinoblastoma in Vietnam.
Novelty and actuality and scientific meaningfulness of the results	- The results contribute to the database of polymorphisms of genes causing iris malformation in Vietnam and around the world. - The results contribute to the database of polymorphisms causing retinoblastoma in Vietnam and around the world.
Products of the project	- Scientific papers in referred journals (list): Ha Hai Nguyen, Chau Minh Pham, Hoa Thi Thanh Nguyen, Nhung Phuong Vu, Trang Thu Duong, Ton Dang Nguyen, Bac Duy Nguyen, Hiep Van Nguyen, Hai Van Nong. "Novel mutations of the PAX6, FOXC1 and PITX2 genes cause abnormal development of the iris in Vietnamese individuals". Molecular Vision, 2021; 27:555-563. - Technological products (describe in details: technical characteristics, place): + A dataset of mutations of iris malformation and retinoblastoma in Vietnam. + An effective and rapid genetic diagnosis method that detects iris malformation. + An effective and rapid genetic diagnosis method that detects retinoblastoma. - Other products (if applicable): 01 Master student
Research area	Vietnam National Institute of Ophthalmology and other genetics centres.
Recommendations	Support for technology transfer to genetics centres in Vietnam.
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