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        1. Rare Disease Day 2024: Models to Effect Change

          February 29, 2024

          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

          KO

          Phenylketonuria

          T052634

          B6-Fah-KO

          KO

          Tyrosinemia

          T012717

          B6-Gla-KO

          KO

          Fabry Disease

          T057359

          NCG-Gla-KO

          KO

          Fabry Disease

          T056726

          NCG-Idua-W392X

          KI

          Mucopolysaccharidosis type I

          T004727

          B6-F8-KO

          KO

          Hemophilia A

          T003802

          NCG-X

          Point Mutation

          Thalassemia

          T013887

          B6-Cfh-KO

          KO

          Atypical Hemolytic Uremic Syndrome

          T004753

          B6-Rag1-KO

          KO

          Primary Combined Immune Deficiency

          T013709

          B6-Atp7b-KO

          KO

          Hepatolenticular Degeneration

          (Wilson Disease)

          T007421

          B6-Abcb4-KO

          KO

          Progressive Familial Intrahepatic 

          Cholestasis

          T054637

          B6-CasrL723Q

          KI

          Autosomal Dominant Hypocalcemia

          T054804

          B6-hHTTCAG130-N

          Transgenic

          Huntington's Disease

          T055223

          B6-hSOD1G93A,hSOD1

          Transgenic

          Amyotrophic Lateral Sclerosis 

          T049591

          B6-DMD Del52

          KO

          Duchenne Muscular Dystrophy

          T043979

          B6-Col7a1-KO

          KO

          Hereditary Epidermolysis Bullosa

          T028549

          B6-Cnga3-KO

          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.