Rare Diseases treatment and research Center

 

Feature Summary

Taipei Veterans General Hospital established the "Rare Diseases treatment and research Center," the first center in Asia specializing in the treatment, care, and research of rare diseases, on March 11th, 2011. We have formed a team of experts dedicated to researching and treating rare diseases, providing high-quality services centered on rare disease patients.

The center is divided into two parts. The first part is the "Rare Disease Treatment Center," which includes a dedicated team of medical professionals specializing in rare diseases, as well as a dedicated treatment ward, providing a safe and high-quality medical environment centered around rare disease patients. We offer treatment services that operate without interruption on nights and holidays, taking into account the inconvenience that patients face when seeking medical care during working hours. Our service philosophy is based on "treating patients as if they were family," and we strive to provide our patients with the highest quality service.

 

The second part is the "Rare Disease Research and Testing Laboratory," which provides a variety of specialized testing items for genetic diseases, as well as various enzyme analyses, gene analyses, organic acid analyses, amino acid analyses, and other rare disease-related tests. We have also developed a full-gene automated sequencing platform, which greatly improves diagnostic efficiency. Furthermore, the laboratory is actively developing various gene therapies for rare diseases. We have collaborated with international experts and gene therapy companies to conduct human clinical trials of Fabry disease gene therapy.

 

Features

The main featured medical items are as follows：

• Diagnosis and Treatment of inherited diseases.
• Treatment of various rare diseases.
• Diagnosis and treatment of rare and undiagnosed diseases.
• Treatment of Lysosomal diseases, such as Fabry disease, Pompe disease etc.
• Children's growth and developmental problems such as short stature, precocious puberty etc.
• Precise Analysis of Whole Genome Sequencing.

 

Procedure & Achievement

• The treatment effect of PTPS Deficiency phenylketonuria ranks first in the world

  The average IQ of the children with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency under the treatment and care of Taipei Veterans General Hospital Prof. Niu’s group was as high as 97 points while the average IQ of patients treated in the domestic and foreign medical centers was around 70 points. This treatment effect was the No.1 in the world, far ahead of other medical teams.

• The world's most efficient Pompe disease diagnosis and treatment system, the treatment effect is top of the world

  An efficient diagnosis and treatment system for neonatal Pompe disease has been established at Taipei Veterans General Hospital, making it the most effective in the world. Children with positive screening results that are confirmed by VGHTPE can receive treatment within 6 hours of arriving at the hospital, resulting in superior prognosis indicators after more than ten years of follow-up compared to top medical centers worldwide. These outstanding results have been accepted for publication in top international medical journals, including the Journal of Medical Genetics, and have been featured in special reports by Rare Disease Advisor.

• The world's largest number of confirmed cases of Fabry disease is accompanied by outstanding research results, which have earned it the Symbol of National Quality (SNQ)-Gold Award certification, making it the top-ranked in the world.

 

Through newborn screening and the establishment of the National Fabry's Disease Resource Integration Center, our team has found about 2,400 cases of Fabry's disease carrying GLA gene mutation, and the number of confirmed cases is the largest in the world.

 

• Children's growth and development problems such as short stature, precocious puberty.

Our team of physicians has extensive experience in treating growth and development issues in children such as short stature and precocious puberty. Every day, many patients come from all over seeking treatment from us.

• Actively develop gene therapy for rare diseases and human clinical trials have been carried out. Looking forward to establishing gene therapy R&D center in Taiwan.

Our team is actively developing gene therapy for various rare diseases. Currently, we are collaborating with foreign experts and gene therapy companies to conduct human clinical trials for the treatment of Fabry disease. In addition, we are also collaborating with the Ministry of Science and Technology, as well as globally renowned universities and companies, in industry-academia partnerships. We aim to establish a gene therapy development center in Taiwan and further build it into an international biotech company.

• The first joint outpatient clinic for rare diseases in Taiwan

Rare diseases often affect different organs of the patient's body, causing systemic clinical problems. The one-stop "joint clinic" can prevent patients and their families from running between different departments for consultations, saving patients time and medical expenses. Additionally, patients can receive opinions from multiple interdisciplinary physicians and medical teams at once, to develop the best integrated treatment and care plan.

• Precise Analysis of Whole Genome Sequencing

Our team has developed a real-time whole-genome clinical analysis system designed specifically for clinical physicians. This system can quickly and accurately provide results for whole-genome analysis, and can be used to analyze patient data in outpatient clinics according to the needs of the physician. The system allows clinicians to explain the analysis results to patients and their families in real-time. Additionally, the system provides seven types of genetic analysis reports, including disease analysis, constitution, and drug metabolism, which can serve as important references for disease treatment and prevention.

 

Notification

The Rare Disease treatment and research Center combines specialists, nurses, genetic counselors, dietitians, rehabilitation therapists, psychologists, medical laboratory scientists, and technicians to form an interdisciplinary medical team. Each specialist and healthcare professional has years of experience and clinical expertise to provide high-quality services in diagnosis, treatment, and care for you or your child.

 

Estimated Cost

For estimated medical costs, please contact International Medical Services Center.