JAX Laboratory Rare Disease Research Center

Jackson Laboratory Rare Disease Research Center

When it comes to treating rare disease there are so many hurdles that must overcome before treatments can finally make it to the clinic and its patients. This is largely in part due to the very nature of rare diseases lacking the research and information required to understand and combat these obscure medical conditions.


Despite the obvious financial disadvantage in developing treatments only required by very few numbers, there are a growing number of organizations dedicating themselves to study of rare diseases. One of such organizations is the Jackson Laboratory (JAX), which recently established the ‘Rare Disease Translational Center’ for that very reason.

JAX Lab Premier Rare Disease Research Center

Known as the ‘Premier Rare Disease Research Partner’, JAX created the center to help accelerate the long path medicines must undertake from initial discovery to successful clinical trials, and manufacturing to distribution.

The lab, based Farmington, Connecticut, aims to achieve this through partnerships, innovations and improved to pre-clinical pipelines that will all work together to speed up the process that sees therapies advance from testing in laboratories to real world use in clinics.

To date the center has over 80 ongoing projects, oversees 40+ collaborations, and has created over 60+ models.

Treatments are developed through 5 phases:

Model Generation > Model Characterization > Therapeutic Assessment > IND Enabling > Clinical Trials

A quick look at stats on the website show the current progress the center has made in its leading programs. These leading projects span 4 categories of medical disorders including:


  • Rett Syndrome: Gene Editing > Status: Therapeutic Assessment
  • Alternating Hemipelgia of Childhood (AHC): Gene Editing, ASO, Gene Therapy > Status: Therapeutic Assessment
  • HNRNPH2-related neurodevelopmental disorder: ASO > Status: Therapeutic Assessment
  • Cornelia de Lange Syndrome: Gene Therapy > Status: Therapeutic Assessment
  • PGAP3-congenital disorder of glycosylation: Gene Editing, ASO, Gene Therapy > Status: Therapeutic Assessment


  • Charcot-Marie-Tooth Type 4J: Gene Editing, ASO, Gene Therapy > Status: Clinical Trials
  • Infantile neuroaxonal dystrophy (INAD): Gene Editing, ASO, Gene Therapy > Status: IND Enabling
  • Huntington’s Disease: Gene Editing, ASO, Gene Therapy > Status: Therapeutic Assessment
  • Spinal Muscular Atrophy: Gene Editing, ASO, Gene Therapy > Status: Therapeutic Assessment


    • Friedreich’s Ataxia: Gene Editing, ASO, Gene Therapy > Status: Therapeutic Assessment
    • POLG Mitochondrial Disorders: Gene Editing, ASO, Gene Therapy > Status: Model Characterization

Other Gene Disorders:

  • Multiple Sulfatase Deficiency: Gene Editing, ASO, Gene Therapy > Status: Clinical Trials
JAX Lab Rare Disease Research Center

JAX Rare Disease Research Center

How the Platform & Process Works

To devise the most effective therapy for rare diseases, the center works closely with patients using the mouse model as a foundational research process. This established concept could help accelerate the preclinical research pipeline so that treatments can be delivered as soon as possible while still being effective and safe.

During this stage, your assigned team of scientists will work to determine if a rare disease model already exists and, if so, how closely it fits your advised therapeutic strategy. When no current model exists, genetic engineers immediately take steps to create one by employing state-of-the-art technologies and strategies that model patient variants so an initial overview and guidelines can be developed.

In addition, the team will aim to future-proof your specific model by allowing its use as a tool to test a wide range of other therapeutic approaches that could lead to the discovery of new techniques, or at the very least, keep the model up-to-date with current technology so treatment remains effective.

To improve the efficiency of your pipeline, the team will search for outcomes that translate directly to clinical practice. The team’s robust research process helps position your studies as Investigational New Drug (IND) supporting. To achieve this, the team utilizes a ‘parallel approach’ that can accelerate lead therapies to the clinic faster. 

Furthermore, the team regularly collaborates with a ‘diverse range of global entities from families who have just received a diagnosis to biotech and pharmaceutical groups.’ These interactions can further assist in the undertaking of complex research problems, and each instance has the potential to uncover even more new information.

JAX Laboratory Additional Services

The JAX.org website offers a number of other services related to the diagnosis and treatment of rare diseases. For example, you can nominate your own disease, or that of family/friends, you can take courses both in person and online, the research facility also offers a number of scientific and data research services for a wide range of medical needs.

All in all, with such a competent laboratory providing the platform to further research into rare diseases, the future of our understanding regarding these unique conditions looks to be bright, full of discovery, and with the promise of even more effective treatments for these conditions that typically lack much useful documentation.

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