Here at GemPharmatech, we are dedicated to supporting rare disease researchers in their quest to improve therapies and ultimately find a cure. We believe innovative rare disease mouse models are an invaluable tool for rare disease research. Learn more about our existing rare disease mouse models and our customized model services below.

Roughly 300 million people worldwide live with a rare disease, half of them being children. In the United States a rare disease is defined as one that affects less than 200,000 people. To date nearly 7,000 have been identified. These diseases are often genetically based, difficult to diagnose, complex, progressive, and life-threatening. Unfortunately, treatment options are limited, ineffective or nonexistent. Like many diseases, rare diseases not only affect the individual but also their family members.

We mean it when we say we are seriously dedicated to supporting rare disease research! In addition to creating reliable mouse models, we also offer funding opportunities for non-profit organizations. To apply and learn more click here.

Mouse Models

Knockout All Project

Our Knockout All project (KOAP) uses a specialized CRISPR-Cas9 platform to efficiently generate knockout (KO) and conditional knockout (cKO) mice. We currently have 17,000+ genetically modified mouse models (GEMMs) available, many of which can be used for rare disease research.

Customized Mouse Model Generation

Don’t see the gene you study in our KOAP library? No problem! We can use our CRISPR-Cas9 technology to rapidly generate a custom mouse model for you. Working closely with our customers, we have successfully generated custom mouse models for several rare diseases.

Please note, these mice are not available for purchase, as they were custom ordered. Contact us today to learn more about how to generate your own custom mouse model.

Rare diseases mouse models we have successfully created include, but are not limited to:

  • Nervous System Disorders: Amyotrophic lateral Sclerosis, spinocerebellar ataxia, Wieacker-Wolff syndrome
  • Metabolic Disorders: Bardet-Biedl syndrome, hyperhomocysteinemia, Fabry disease
  • Immune System Syndromes: Trichohepatoenteric syndrome, COPA syndrome, CANDLE syndrome
  • Vision and Hearing Disorders: Usher syndrome, retinitis pigmentosa, KID syndrome
  • Cardiovascular Diseases: Hereditary cerebrovascular disease, hereditary heart disease, hereditary hemorrhagic telangiectasia
  • Developmental Syndromes: Marden-Walker syndrome, Noonan syndrome, Lenz microphthalmia syndrome
  • Skeletal Disorders: Congenital skeletal malformation, microcephaly bone dysplasia
  • Aging Syndromes: Hutchinson-Gilford syndrome
  • Reproduction Conditions: Asthenospermia
  • Muscular Diseases: Charcot-Marie-Tooth disease
  • Integumentary System Disorders: Alopecia areata
  • Urinary System Disorders: Primary macronodular adrenal hyperplasia