Rare Disease Day takes place on the last day of February each year since 2008. The main objective of Rare Disease Day is to raise awareness about rare diseases and the impact they have on lives.

Rare Disease Day

Key statistics on rare diseases:

  • Over 300 million people around the world are living with a rare disease
  • There are over 6,000 identified rare diseases
  • 72% of rare diseases are genetic
  • 70% of genetic rare diseases start in childhood

PhoenixBio recently developed in vivo OTCD humanized liver mouse model and in vitro model of OTCD based on hepatocytes isolated from those mice. The OTCD humanized liver mice and their hepatocytes are available for custom production in our regular service and product lineups.

Open Access paper Humanized liver mouse model with transplanted human hepatocytes from patients with ornithine transcarbamylase deficiency” describes the development of a humanized liver mouse model of OTCD with the characteristics similar to OTCD patients. Ornithine transcarbamylase deficiency (OTCD) is a metabolic and genetic disease caused by dysfunction of the hepatocytic urea cycle. Primary human hepatocytes isolated from male and female pediatric patients were used for the transplantation into cDNA-uPA/SCID mice to develop this OTC mouse model. Serial transplantation was used to achieve high repopulation of mouse liver with donor hepatocytes (over 80%). Highly humanized OTCD mice showed characteristics similar to those seen in OTCD patients including increased blood ammonia levels and urine orotic acid levels enhanced by allopurinol treatment. Additionally, human hepatocytes isolated from the mice were useful as an in vitro model of OTCD as they displayed a similar morphology to control hepatocytes for more than two weeks after plating.

Serial transplantation of human hepatocytes