Ichthyosis

Ichthyosis is a dermatological condition classified as a skin keratinization disorder. It is primarily characterized by persistent dryness and a marked thickening of the skin. This condition can vary in severity, ranging from mild cases with minimal impact on daily life to severe forms. Our company is well-equipped to address your drug and therapy development requirements in Ichthyosis therapy.

Overview of Ichthyosis

Ichthyosis is a group of genetic skin cornification disorders characterized by dry, scaly skin with varying degrees of thickening and desquamation. These disorders manifest in different forms, ranging from mild itching to severe skin damage (Dermatology Times). Ichthyosis vulgaris is the most common inherited form, affecting approximately 1 in 250 people globally. More rare types, such as congenital ichthyosiform erythroderma and harlequin ichthyosis, have incidences of about 1 in 300,000 newborns.

Pathogenesis of Ichthyosis

The pathogenesis of ichthyosis involves a complex interplay of genetic and immunological factors leading to skin barrier dysfunction. Genetic mutations in specific genes related to skin structure and function result in impaired keratinocyte differentiation and abnormal epidermal barrier function. Mutations disrupt the formation, loading, and exocytosis of lamellar bodies, thus compromising the skin's protective barrier. Additionally, immune dysregulation in individuals with ichthyosis can lead to an increased risk of fungal infections .

Mechanism of fungal invasion in patients with inherited ichthyosis.

Fig. 1 Pathogenesis of fungal invasion in patients with inherited ichthyosis. (Joosten, M.D.W., et al., 2022)

Diagnosis Development of Ichthyosis

Whole-exome sequencing (WES): This method efficiently identifies genetic mutations associated with Ichthyosis, especially when conventional genetic testing fails to establish a definitive diagnosis.
Gene chip technology: This technology allows for the simultaneous detection of multiple genes associated with Ichthyosis, enhancing the efficiency and accuracy of diagnosis.
Proteomics: Analyzing: the protein expression patterns in skin samples from individuals can reveal biomarkers related to Ichthyosis.

Therapy Development of Ichthyosis

Recent advances in ichthyosis therapy have focused on pathogenesis-based therapies like protein replacement and gene therapy, showing promising outcomes especially for inherited skin diseases.

Recent advances in molecular therapies for ichthyosis.

Fig. 2 Overview of the recent developments in molecular treatment of ichthyosis. (Miao, H., et al., 2021)

Small Molecule Drugs

Monoclonal antibodies target specific molecular pathways involved in skin growth and differentiation. The potential for using monoclonal antibodies to inhibit overactive immune responses or other pathological signals in ichthyosis is an area of ongoing research.

Gene Therapies

Gene therapy represents a cutting-edge approach in ichthyosis. By delivering correct copies of the defective gene directly into the individual's skin cells, gene therapy has the potential to provide a long-term solution to the underlying genetic causes of ichthyosis.

Our Services

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

Platforms of Ichthyosis Therapy Development

Small molecule drug
Cell therapy

Gene therapy
Therapeutic antibody

Therapeutic peptide
Therapeutic protein

Animal Models of Ichthyosis

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.

Chemical Induced Models
We provide diverse model choices customized to meet specific research needs related to ichthyosis. These models allow researchers to simulate and study the complex biological processes associated with ichthyosis.
Optional Models	Retinoid-induced Model	Sulfur Mustard Exposure Model
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 Ichthyosis.
Optional Models	TGM1 Transgenic Mice Model ABCA12 Transgenic Mice Model Nrf2 Conditional Knockout Mice Model	KRT10 Knock-out Mice Model FLG Knock-in Mice 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.

References

Joosten, M.D.W., et al., "New developments in the molecular treatment of ichthyosis: review of the literature." Orphanet J Rare Dis, (2022). 17(1): p. 269.
Miao, H., et al., "Inherited ichthyosis and fungal infection: an update on pathogenesis and treatment strategies." J Dtsch Dermatol Ges, (2021). 19(3): p. 341-350.
Limmer, A.L., et al., "Management of Ichthyosis: A Brief Review." Skin Therapy Lett, (2020). 25(1): p. 5-7.

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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