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Aicardi-Goutieres Syndrome (AGS)

Aicardi-Goutieres syndrome (AGS) is a systemic, multi-system autoimmune disease characterized by chronic activation of the Type I interferon signaling pathway. Specialized drug and therapy development services are essential to enhance and expedite AGS research. Our company is well-equipped to address your drug and therapy development requirements in AGS therapy.

Introduction to Aicardi-Goutieres Syndrome

Aicardi-Goutieres syndrome, an autosomal recessive condition, is marked by microcephaly, cerebral calcifications, and persistent lymphocytosis in cerebrospinal fluid. Linked to abnormal interferon-alpha production, this syndrome triggers a systemic inflammatory response and manifests severe neurological impairments, typically appearing within the first year of life. Genetic research has identified mutations in multiple genes associated with AGS. In Denmark, the incidence rate is estimated at approximately 0.0539 per 100,000 individuals under 18 each year.

Human ADAR1 gene structure. Fig. 1 Schematic of the human ADAR1 gene. (Rice, G.I., et al., 2012)

Pathogenesis of Aicardi-Goutieres Syndrome

  • Aicardi-Goutieres Syndrome is characterized by mutations in genes involved in nucleic acid metabolism, such as TREX1, RNASEH2, SAMHD1, and ADAR1.
  • These mutations leading to inappropriate activation of the type I interferon pathway by pattern recognition receptors like the cGAS-STING pathway.
  • The resulting chronic interferon response triggers inflammation and damage. Elevated interferon levels serve as a key diagnostic marker and contribute to the disease's severe neurological and dermatological manifestations.
Proposed immune system stimulation model of Aicardi–Goutières syndrome (AGS)-related protein dysfunction. Fig. 2 Proposed model of immune system stimulation by nucleic acids accumulating as a consequence of Aicardi–Goutières syndrome (AGS)-related protein dysfunction. (Crow, Y.J., et al., 2014)

Diagnosis Development of Aicardi-Goutieres Syndrome

Recently, advancements in diagnosing AGS have concentrated on pinpointing biomarkers, especially those associated with the activated interferon (IFN) pathway characteristic of AGS. Researchers are examining interferon-stimulated genes (ISGs) and the interferon signature in the blood as crucial biomarkers for their ability to enhance the precision and speed of AGS diagnosis. Consistently high levels of IFN-alpha in the cerebrospinal fluid (CSF) and serum are noted in individuals with AGS.

Therapy Development of Aicardi-Goutieres Syndrome

Small Molecule Drugs

Small molecule drugs targeting the interferon pathway have shown promise in managing AGS. Baricitinib, a Janus kinase (JAK) inhibitor, is one such example. It inhibits the JAK-STAT pathway, which plays a critical role in the signaling of type I interferons. By inhibiting this pathway, baricitinib may reduce the overactive immune response characteristic of AGS.

Cell Therapies

Cell therapies for AGS are in the exploratory stages, focusing primarily on modulating the immune system or repairing immune system dysfunction. One approach involves the use of regulatory T cells (Tregs) to enhance immune regulation and prevent the autoimmune features of AGS. Another potential strategy could involve the use of mesenchymal stem cells (MSCs).

Monoclonal Antibodies

Monoclonal antibodies that target specific components of the immune system are being considered for AGS therapy. An example is the use of antibodies against interferon-alpha (IFN-α), such as sifalimumab. These antibodies are designed to neutralize IFN-α, potentially reducing the harmful overexpression of interferon-stimulated genes found in AGS.

Gene Therapies

Gene therapy for AGS is highly speculative at this stage but could offer a curative approach by correcting the genetic defects underlying the syndrome. Techniques like CRISPR/Cas9 genome editing might be used in the future to directly correct mutations in genes such as TREX1 or RNASEH2 that are responsible for AGS. This would be a significant advancement.

Our Services

Our company adopts a partnership-driven approach. We collaborate closely with clients to craft tailored, innovative AGS therapy strategies and ensure robust support throughout the process.

Platforms of Aicardi-Goutieres Syndrome Therapy Development

Animal Models of Aicardi-Goutieres Syndrome

We have established expertise in developing and utilizing relevant animal models that closely mimic the disease characteristics and response to therapy. These models enable us to evaluate the safety and efficacy of potential therapies.

Genetically Engineered Models
Our expertise in genetic engineering techniques, such as CRISPR/Cas9 technology, allows us to generate accurate and reliable models that recapitulate the genetic alterations observed in human AGS.
Optional Models
  • TREX1 Knockout Model
  • RNASEH2B Knockout Model
  • IFIH1 Overexpression Model
  • SAMHD1 Transgenic Model
  • ADAR1 Knockout Model
Optional Species Mice, Rats, Non-human primates, Others

In addition to these models, our comprehensive services encompass other models that target specific signaling pathways and molecular targets.

If our services align with your goals, please contact us for more details.


  • Rice, G.I., et al., "Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature." Nat Genet, (2012). 44(11): p. 1243-1248.
  • Crow, Y.J., et al., "Therapies in Aicardi-Goutieres syndrome." Clin Exp Immunol, (2014). 175(1): p. 1-8.
  • Liu, A. and Ying, S., "Aicardi-Goutieres syndrome: A monogenic type I interferonopathy." Scand J Immunol, (2023). 98(4): p. e13314.

All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.

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