CUHK Establishes LIM Por-yen Eye Genetics Research Centre and
¡@¡@"Nowadays biotechnology plays an important role in medical research and clinical practice. Recent advances in biotechnology and molecular genetics have led to new understanding of causes of genetic eye diseases," said Professor Chi-pui Pang, Professor of Department of Ophthalmology & Visual Sciences of The Chinese University of Hong Kong (CUHK) and the Deputy Director of LIM Por-yen Eye Genetics Research Centre, "we started our molecular genetics laboratory in the Department of Ophthalmology & Visual Sciences in 1998, and are ready to move on to establish an eye genetics research centre to provide service for genetic screening for eye diseases at molecular level, the first of its kind in South East Asia, and to further on our advanced research." ¡@¡@The Department has established the differential patterns of mutations causative of eye diseases in Chinese in more than 10 candidate genes. It has gained international recognition through output from its research work, having contributed 42 publications on genetic eye diseases in international journals and presented 105 papers in international conferences. ¡@¡@For clinical genetic screening service, a number of genetic markers based on disease causing mutations using blood samples have been established. These markers have been validated for their usefulness in patients both before and after the onset of the diseases. These include the MYOC gene for primary open-angle glaucoma, a major form of glaucoma and the most important cause of irreversible blindness worldwide. Retinitis pigmentosa has a known genetic predisposition and the RHO gene is one of the causative genes. The yields (positive results) of these genetic screening using blood samples are governed by the frequency of respective patients carrying these gene defects. It is about 3% in primary open-angle glaucoma and retinitis pigmentosa patients respectively. The yields are similar in Chinese and Western populations. For retinoblastoma, the commonest eye cancer that afflicts young children, the yield of the RB1 gene test is about 45%. A yield of about 90% is attained by mtDNA testing for Leber's hereditary optic neuropathy, the RS1 gene for X-linked retinoschisis, and the VMD2 gene for Best vitelliform macular dystrophy. ¡@¡@Dr. Dorothy Shu-ping Fan, Associate Professor of the Department of Ophthalmology & Visual Sciences of CUHK, and Director of Genetic Counseling of LIM Por-yen Eye Genetics Research Centre, remarked, "Retinoblastoma can cause not only bilateral blindness but also death if not treated early enough. For patients with positive family history, there is a 50% chance of their siblings and offsprings to be suffering from retinoblastoma. Pre-natal genetic screening for fetus will help assess the risk. If the result is positive, the involved family may have to consider therapeutic abortion." Table 1: Genetic Screening for Eye Diseases available at the LIM Por-yen Eye Genetics Research Center
¡@¡@"Through genetic screening, we can identify individuals at high risk of developing a particular disease such as primary open-angle glaucoma. By providing regular check-up for these high risk individuals, we will be able to detect and treat the disease at an early stage, which implies a better long-term outcome," said Professor Dennis Shun-chiu Lam, Chairman of the Department of Ophthalmology & Visual Sciences of CUHK and Director of LIM Por-yen Eye Genetics Research Centre. "Primary open-angle glaucoma is the leading cause of irreversible blindness in Hong Kong and the rest of world. Patients usually come late because there are no significant symptoms until in the late stage. The damage done to the optic nerve is irreversible. Through genetic screening, we can make much earlier diagnosis in some cases and the chance of preserving eye sight is therefore much better." ¡@¡@A Cheque Presentation Ceremony and Naming Ceremony of the LIM Por-yen Eye Genetics Research Centre took place today. Mr. Lim Por-yen presented the donation to CUHK in person. Dr. Edgar W.K. Cheng, Chairman of the Council, and Professor Ambrose Y.C. King, Vice-Chancellor of TCUHK also officiated at the Ceremony. CUHK is most grateful to Mr. Lim Por-yen for his generous donation. His support will help the University to go further in terms of research as well as providing special service such as genetic eye screening for those in need. ¡@¡@The LIM Por-yen Eye Genetics Research Centre will offer molecular genetic screening service for genetic eye diseases as listed in Table 1 from 1 April 2004. Patients interested in finding out whether the genetic screening service is helpful to them or not are most welcome to call our telephone hotlines 2762 3168 or 2762 3181 during office hour on 26-29 March 2004. |