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


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 or reach out to your local sales representative.