This Rare Disease Day, we look at why raising awareness for rare diseases is important, and the genetically engineered mouse models available at GemPharmatech to help researchers push towards cures.
The day, organized by EURODIS whose mission is to, “…empower, partner, and advocate for people living with rare disease in Europe,” is dedicated to raising awareness of rare diseases and providing support to those who suffer from them.
What is a rare disease?
While definitions may vary, Rare Disease Day defines a disease as rare “when it affects fewer than 1 in 2,000 people.” These diseases often seriously impact the quality of life of patients, with some being deadly. Despite the seriousness of these diseases, their low prevalence can lead to a lack of relevant drug development activities. In this case, there can also be a lack of relevant animal models.
GemPharmatech’s Rare Disease Mouse Models
Rare Disease Day also cites that 72% of these rare diseases are genetic. At GemPharmatech, we have the largest collection of genetically engineered mouse models, which includes our Knockout All Project (KOAP), that aims to create knockout (KO) and conditional knockout (cKO) mouse strains for all ~23,000 protein coding genes in the mouse genome.
With all our mouse model creation, we aim to enable the research of scientists for not only the most common diseases, but the rarest too.
We have established models for a wide range of rare diseases including hemophilia, Duchenne muscular dystrophy, amyotrophic lateral sclerosis, and many neurologically or metabolic related rare diseases using advanced gene editing technology. These mouse models help scientists to better comprehend the mechanisms of diseases, explore potential therapeutic targets, and evaluate the efficacy of drug candidates.
A table with select rare disease mouse models currently available at GemPharmatech:
| Strain Number | Strain Name | Strain Type | Disease Indication |
| T011802 | B6-Pah-KO | Cas9-KO | Phenylketonuria |
| T052634 | B6-Fah-KO | Cas9-KO | Tyrosinemia |
| T012717 | B6-Gla-KO | Cas9-KO | Fabry Disease |
| T057359 | NCG-Gla-KO | Cas9-KO | Fabry Disease |
| T056726 | NCG-Idua-W392X | Cas9-KI | Mucopolysaccharidosis type I |
| T004727 | B6-F8-KO | Cas9-KO | Hemophilia A |
| T003802 | NCG-X | Point Mutation | Thalassemia |
| T013887 | B6-Cfh-KO | Cas9-KO | Atypical Hemolytic Uremic Syndrome |
| T004753 | B6-Rag1-KO | Cas9-KO | Primary Combined Immune Deficiency |
| T013709 | B6-Atp7b-KO | Cas9-KO | Hepatolenticular Degeneration
(Wilson Disease) |
| T007421 | B6-Abcb4-KO | Cas9-KO | Progressive Familial Intrahepatic
Cholestasis |
| T054637 | B6-CasrL723Q | Cas9-KI | Autosomal Dominant Hypocalcemia |
| T054804 | B6-hHTTCAG130-N | Transgenic | Huntington’s Disease |
| T055223 | B6-hSOD1G93A,hSOD1 | Transgenic | Amyotrophic Lateral Sclerosis |
| T049591 | B6-DMD Del52 | Cas9-KO | Duchenne Muscular Dystrophy |
| T043979 | B6-Col7a1-KO | Cas9-KO | Hereditary Epidermolysis Bullosa |
| T028549 | B6-Cnga3-KO | Cas9-KO | Achromatopsia |
(Click the strain number to be taken to the model product page)
Therapeutic Development for Rare Diseases
Currently, the diagnosis and treatment of rare diseases is still an international challenge, with only 5% of rare diseases having effective treatments worldwide. In most cases, these diseases do not have complete cures and patients are only able to receive symptomatic treatment to alleviate the disease’s progression.
Mutations or deletions in functional genes are the cause of most rare diseases, and the effective targeting of affected genes has made it one of the most important means of treating rare diseases and moving towards cures.
There is a growing list of FDA-approved gene therapy products that offer hope for patients suffering from these serious diseases. At GemPharmatech, our products and preclinical services are vital to the research and development of these therapies.
For more information about any of our rare disease models, or to explore creating your own model, please contact us at sales@gempharmatech.us or reach out to your local sales representative.
