A high throughput screening model done within 7 days by using a single drop of blood for inherited hearing loss
To act in concert with the “5+2 Industrial Innovation Plan”, Ministry of Science and Technology promoted a specific project plan “Application of precision medicine to enhance maternal-fetal healthcare (106-109)” since 2017, which is to take care of overall maternal and child health through precise medical technology. According to statistics of government, inherited hearing loss is one of the most common congenital diseases. The incidence of congenital deafness is around 3 to 5 newborn per one thousand, and parents usually didn’t notice the hearing issues until kids showed obviously delayed cognitive and language skills. Therefore, the best timing for treatment is always missed, leading to the irreversible damages on language and related nerve system development. Hence, under the support of Ministry of Science and Technology and the coordinate of neonatal hearing screening program from the Health Promotion Administration of the Ministry of Health and Welfare, Dr. Dau-Ming Niu’s team from Taipei Veterans General Hospital had established and optimized a high throughput screening model for inherited hearing loss. The screening can be done within 7 days by using a single drop of blood. This facilitates us to accomplish preliminary diagnosis and provide proper treatments rapidly. Our effectiveness is surpassing over most of the leading medical centers around the world.
Since 2012, the Health Promotion Administration of the Ministry of Health and Welfare has started a subsidy program for neonatal hearing screening. However, due to the lack of other clinical auxiliary indicators, the current false positive is way higher than the true percentage of babies with hearing loss, and the cases who failed the hearing screening needs to be referred to hospitals for confirmatory tests. Hence, how to implant a system of precision medicine that can identify and diagnose the high-risk babies more efficiently, as well as the innovation of rapid diagnosis and novel personalized medicine for inherited hearing loss are unmet medical needs. With the support of the grant “Application of precision medicine to enhance maternal-fetal healthcare” from Ministry of Science and Technology and the coordinate of neonatal hearing screening from the Health Promotion Administration of the Ministry of Health and Welfare, Dr. Dau-Ming Niu’s team from Taipei Veterans General Hospital sought to optimize the procedures of the newborn hearing screening and confirmatory tests. For those with high risk factors of congenital hearing loss including newborns who fails hearing screening, babies who are born extremely premature or babies who requires intensive care, “congenital infection of cytomegalovirus (CMV) and Toxoplasma” and “genetic deafness” can be rapidly screened through using “saliva high throughput detection platform” and “MassARRAY MALDI-TOF Spectrometry analysis platform”. This system will speed up the diagnosis of high-risk groups and improve the accuracy and timeliness of diagnosis. Newborns will be confirmed for whether their hearing loss is due to congenital infection or genetic defects within 7 days. This is significantly much shorter than the recommendation of from Health Promotion Administration of the Ministry of Health and Welfare that babies should “be diagnosed by 3 months of age, and be intervened by 6 months of age”. This can greatly help to catch the “Golden treatment period”. Moreover, we will be able to treat the cause of hearing loss, such as provide proper antimicrobial treatment for babies with congenital infection to avoid irreversible damages. The diagnosis results can also help accelerate the evaluation procedures of wearing hearing aids or cochlear implants according to the different natures of the genetic mutations.
Dr. Dau-Ming Niu’s team from Taipei Veterans General Hospital had also collaborated with the Institute of Brain Science of National Yang-Ming University, National Taiwan University College of Medicine and Harvard Medical School. Promising results in the gene therapy research on some of the genetic deafness-related hot spots using induced pluripotent stem cell (iPSC) model and mice model had been achieved through this collaboration. We are planning to utilize these preclinical results to clinical use in the near future.
Under the Global development trend of precision medicine, in order to drive the development of precision health industry, Ministry of Science and Technology will be promoting an inter-ministerial project of “Taiwan Precision Health Strategy Development Plan” in the next 4 years. The usage of whole genome sequencing not only can facilitate the diagnosis of inherited disease, it can also be used to evaluate genetic constitution and set up health management according to one’s personal need. Early prevention, early treatment and “Personalized Preventive Medicine” will not be a dream but can really come true in the near future.
Dau-Ming Niu, M.D., Ph.D
Professor Dau-Ming Niu, the chairman of the Department of Pediatrics, Taipei Veterans General Hospital, is also a professor in the Institute of Clinical Medicine, National Yang-Ming University. For more than 20 years, professor Niu has devoted to the treatment care and clinical research of rare genetic disease. Moreover, he had largely contributed on social welfare and medical service. Because of these, he had received extensive trust from patients and their relatives. He had achieved outstanding and fruitful results in the academic research field, which were admired by numerous experts and scholars around the world. The fantastic work of Dr. Niu had accomplished a lot of “number one” in the medical history of rare diseases in Taiwan. Recently, Dr, Niu had been energetic in developing “personal precision medicine” by using next generation sequencing and artificial intelligence big data analysis to facilitate the rapid diagnosis of inherited disease and accelerate the development of the research and clinical application of gene therapy. From these, he is looking forward to serve and help more inherited disease patients.
Dr. Dau-Ming Niu
Department of Pediatrics, Taipei Veterans General Hospital
TEL: 02-28712121 ext.8486/8488