In this article,we would introduce our unique style of NANBYO (rare and intractable) diseases patient registry led by patient organizations and themselves,named"J-RARE.net".J-RARE.net is mixed service
In this article,we would introduce our Drug Development Support Program (DDSP) about mitochondrial diseases.KOINOBORI is a nonprofit organization to bring accumulated knowledge and experience together
Building on its unique genetic diversity and a strong tradition of collaborative research,Canada has joined the global effort to tackle rare diseases.The Canadian Institutes of Health Research,in clos
The Phosphatidylinositol Glycan Class A (PIGA) protein is essential for the first step of Glycosylphosphatidylinositol (GPI) anchor biosynthesis.GPl anchors are important for normal development,partic
Dominant deafness-enychodystrophy syndrome (DDOD,MIM 124480) is a type of ectodermal cysplasia characterized mainly by congenital deafness,absent nails and/or toes with variable presence of brachydact
The transcription factor p63 is a key regulator in epithelial and epidermal development.Mutations in p63 give rise to rare epithelial related diseases with defects in skin,limb and orofacial developme
Primordial dwarfism (PD) is characterized by global growth failure,both during embryogenesis and postnatally.Loss-of-function germline mutations in La ribonucleoprotein domain family,member 7 (LAPR7)
Patients and families with rare diseases are generally very supportive of research and development,seeing it as crucial to their hopes of improvements in the quality and quantity of life for themselve
Clinical trials are the critical penultimate step in translating discoveries into better treatments for patients.Planning and implementing such trials requires significant time and resources,and can b
In the journey of a live asset there are two death valleys to get through.The pathway between being a"hope medicine"(an orphan designated product) and becoming a"medicine"(an approved product) and the