Our center provides a dedicated joint clinic for genetic rare diseases, combining the expertise of physicians, nutritionists, rehabilitation therapists, social workers, psychologists, and genetic counselors to serve patients. Through our collective efforts, we have achieved significant results:

(1) The treatment effectiveness of drug-type phenylketonuria is ranked first in the world.

(2) We have successfully developed a diagnosis method for lysosomal storage diseases and found that the incidence of Fabry disease with cardiac variant in Taiwan is the highest in the world.

(3) Research has found that the incidence of homocystinuria and hereditary retinal pigmentary degeneration is the highest in the world among the Tao indigenous people in Orchid Island, and we have gradually established relevant medical care and referral mechanisms.

(4) We are responsible for the diagnostic work of two-thirds of the newborn screening in Taiwan.

(5) We have established a national rare disease special food and drug logistics center.