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Singapore, 23 July 2014 EMBARGOED for broadcast, print and online till delivery on 23 July 2014, 2pm Media Release by Singapore National Eye Centre and Singapore Eye Research Institute with Genome Institute of Singapore, A*STAR, Singapore General Hospital and National University Hospital for the POLARIS Programme. SINGAPORE TEAM DEVELOPS ASIA’S FIRST GENETIC TEST THAT CAN PREVENT CORNEAL BLINDNESS A team of eye doctors and scientists from Singapore have developed Asia’s first genetic test for identifying patients with a type of eye disease that affects the cornea called corneal stromal dystrophy which can lead to blurring and loss of vision. Called the POLARIS™ TGFBI (Transforming Growth Factor beta Induced) test, this genetic test is designed to aid in the diagnosis and management of patients with corneal stromal dystrophies. It can also identify family members carrying a TGFBI mutation who may also be at risk of developing corneal stromal dystrophy. The test was developed as part of the Personalized OMIC Lattice for Advanced Research and Improving Stratification (POLARIS) programme, a national initiative with multiple partners funded by A*STAR, to translate research findings from Singapore back to Singapore patients. Building on prior research performed by Singapore National Eye Centre (SNEC) and Singapore Eye Research Institute (SERI), the Genome Institute of Singapore (GIS) and Singapore General Hospital (SGH) developed the clinical test, which was then validated by the National University Hospital (NUH). Subsequently, clinical samples will be sent to NUH’s Molecular Diagnosis Centre (MDC) for analysis. This genetic test provides corneal stromal dystrophy patients with a personalized diagnosis of their TGFBI mutation, facilitating downstream clinical care in order to be able to prognosticate future disease progression and selection of mutation-specific Page 1 of 7 therapies. Test results can also assist in genetic counselling of families with affected individuals, and pre-surgical risk assessment of these family members before any eye surgery. Patients with corneal stromal dystrophy will be advised by their eye doctors and counselled accordingly on the next steps. Individuals who may have a family history of the disease and wish to know the likelihood of inheriting the condition can take the test. Those who fall in the above categories and considering corneal surgery such as LASIK can discuss taking the test with their eye surgeon. The POLARIS™ TGFBI test is now available at SNEC if the eye doctor determines that it is appropriate for the patient. “It has been our privilege, as POLARIS, to work with the best and brightest clinicians and scientists across Singapore, to bring research findings back to Singapore patients. We are united by a common passion, which is to improve patient outcomes and healthcare”, said Prof Patrick Tan, Program Director, POLARIS. “The development of such a test is a testament to the value of collaborative medical research conducted here in Singapore, where high quality and complex scientific bench research in genetics directly translates to the bedside, and our clinics, to actually help eye physicians diagnose, restore and maintain good vision in our patients, to prevent blindness, and to provide better a better quality of life in a costeffective manner”, said Prof Donald Tan, Medical Director, SNEC. Speaking on the benefits of the POLARIS programme, Dr Benjamin Seet, Executive Director of the Biomedical Research Council, A*STAR said: “This is an excellent example whereby we bring science out of the research lab and right to the point of patient care. The first POLARIS test screens for a genetic eye disease. Beyond this, our scientists are developing screening panels for common cancers seen in Singapore, that will allow doctors to personalise treatments according to a patient’s genetic information. This is the future of how medicine will be practised.” Page 2 of 7 “Singapore General Hospital’s Pathology department closely collaborates with research scientists and clinicians to translate research discoveries into clinical assays for better patient care. The development of this test, which helps clinicians to identify and address the problem earlier, is a very good example of how research and convergence of experts from various fields can improve patient care and clinical outcomes,” said Prof Tan Puay Hoon, Head and Senior Consultant, Department of Pathology, SGH. "We are privileged to be invited by the POLARIS project team to be involved in the lab setup and test validation for this national programme, and are proud to be working with such an enthusiastic group of people, "said Assoc Prof Evelyn Koay, Centre Director, Molecular Diagnosis, Dept of Laboratory Medicine, National University Hospital END Media Contact Ravi Chandran Corporate Communications Singapore National Eye Centre Hp: 8121 8569 Page 3 of 7 About POLARIS POLARIS (Personalized OMIC Lattice for Advanced Research and Improving Stratification) is a strategic program funded by A*STAR to pilot the use of OMIC information into the diagnosis and treatment of medical diseases in Singapore. Leveraging on A*STAR's proven competencies in the OMIC sciences, and the hospitals' expertise in clinical treatment, POLARIS seeks to translate the latest biomedical findings back to Singapore healthcare, thereby providing patients with better access to a new generation of clinical care based on precision medicine. Current POLARIS tests under development cover multiple disease areas, including genetic disease (POLARIS™ TGFBI test); cancer (POLARIS™ GI Cancer Panel); and infectious disease (POLARIS™ tuberculosis test). POLARIS CAP-accredited laboratories (expected 2015) at A*STAR and SingHealth will also facilitate the ability of researchers and clinicians to translate local bio-marker discoveries into clinicallyvalidated and implementable assays, and facilitate more clinical drug trials in collaboration with pharmaceutical companies. POLARIS also supports education, outreach, and engagement efforts to facilitate the ability of basic scientists to partner with local clinician scientists and hospitals. More information is available at http://polaris.a-star.edu.sg About Singapore National Eye Centre (SNEC) Singapore National Eye Centre (SNEC) was incorporated in 1989 and commenced operations in 1990. It is the designated national centre within the public sector healthcare network, and spearheads and coordinates the provision of specialised ophthalmological services with emphasis on quality education and research. Since its opening in 1990, SNEC has achieved rapid growth and currently manages an annual workload of 300,000 outpatient visits, 34,000 major eye surgeries and laser procedures. Ten subspecialties in Cataract, Corneal and External Eye Disease, General Cataract and Comprehensive Ophthalmology, Glaucoma, Neuro- Ophthalmology, Oculoplastic and Aesthetic Eyeplastic, Paediatric Ophthalmology and Strabismus, Refractive Surgery, Ocular Inflammation and Immunology and Page 4 of 7 Vitreo-Retina have been established to provide a full range of eye treatment from comprehensive to tertiary levels for the entire spectrum of eye conditions. SNEC is a member of Singapore Health Services (SingHealth). See www.snec.com.sg for more information. About Singapore Eye Research Institute (SERI) SERI is the national research institute for ophthalmic and vision research in Singapore. Serving as the research institute of the Singapore National Eye Centre, and directly affiliated to the Yong Loo Lin School of Medicine, National University of Singapore, as well the Duke-NUS Graduate Medical School, SERI undertakes vision research in collaboration with local clinical ophthalmic centres and biomedical research institutions, as well as major eye centers and research institutes throughout the world. See www.seri.com.sg for more information. About the Agency for Science, Technology and Research (A*STAR) The Agency for Science, Technology and Research (A*STAR) is Singapore's lead public sector agency that fosters world-class scientific research and talent to drive economic growth and transform Singapore into a vibrant knowledge-based and innovation driven economy. In line with its mission-oriented mandate, A*STAR spearheads research and development in fields that are essential to growing Singapore’s manufacturing sector and catalysing new growth industries. A*STAR supports these economic clusters by providing intellectual, human and industrial capital to its partners in industry. A*STAR oversees 20 biomedical sciences and physical sciences and engineering research entities, located in Biopolis and Fusionopolis as well as their vicinity. These two R&D hubs house a bustling and diverse community of local and international research scientists and engineers from A*STAR’s research entities as well as a growing number of corporate laboratories. Please visit www.a-star.edu.sg. Page 5 of 7 About the Genome Institute of Singapore The Genome Institute of Singapore (GIS) is an institute of the Agency for Science, Technology and Research (A*STAR). It has a global vision that seeks to use genomic sciences to improve public health and public prosperity. Established in 2001 as a centre for genomic discovery, the GIS will pursue the integration of technology, genetics and biology towards the goal of individualized medicine. The key research areas at the GIS include computational & systems biology, stem cell and developmental biology, cancer stem cell biology, cancer therapeutics and stratified oncology, human genetics, infectious diseases, genomic technologies and translational technologies. The genomics infrastructure at the GIS is utilized to train new scientific talent, to function as a bridge for academic and industrial research, and to explore scientific questions of high impact. Please visit www.gis.a-star.edu.sg. About Singapore General Hospital Singapore General Hospital, a member of Singapore Health Services, is the public sector's flagship hospital. Established in 1821, SGH is Singapore's largest acute tertiary hospital with 1,700 beds and national referral centre offering a comprehensive range of 36 clinical specialties on its campus. Every year, about 1 million Singaporeans benefit from advanced medical care delivered by its 800 specialists. As an academic healthcare institution and the bedrock of medical education, SGH plays a key role in nurturing doctors, nurses and allied health professionals, and is committed to innovative translational and clinical research in her continual strive to provide the best care and outcomes to her patients. See www.sgh.com.sg About the National University Hospital The NUH is a tertiary hospital cum academic medical centre and major referral centre for a comprehensive range of medical, surgical and dental specialties including Cardiology, Gastroenterology and Hepatology, Obstetrics and Gynaecology, Oncology, Ophthalmology, Paediatrics, Orthopaedic Surgery and Hand and Reconstructive Microsurgery. The Hospital also provides organ transplant Page 6 of 7 programmes for adults (in kidney, liver and pancreas) and is the only public hospital in Singapore to offer a paediatric kidney and liver transplant programme. Staffed by a team of healthcare professionals who rank among the best in the field, the NUH offers quality patient care by embracing innovations and advances in medical treatment. In 2004, the NUH became the first Singapore hospital to receive the Joint Commission International (JCI) accreditation, an international stamp for excellent clinical practices in patient care and safety. Today, patient safety and good clinical outcomes remain the focus of the hospital as it continues to play a key role in the training of doctors, nurses and allied health professionals, and in translational research which paves the way for new cures and treatment, offering patients hope and a new lease of life. A member of the National University Health System, it is the principal teaching hospital of the NUS Yong Loo Lin School of Medicine and the NUS Faculty of Dentistry. For more information about the NUH, please visit www.nuh.com.sg Page 7 of 7