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Project Description

Please note that we are not a pharmacy or clinic, so we are unable to see patients and do not offer diagnostic and treatment services for individuals.

Dyskeratosis Congenita (DC)

Dyskeratosis congenita (DC) is a rare progressive congenital disease. With our pioneering efforts in dyskeratosis congenita research, we are at the forefront of developing cutting-edge diagnostic tools and therapeutics to facilitate the effective management of dyskeratosis congenita. As your reliable partner in dyskeratosis congenita research, we offer unmatched support to fulfill your scientific research needs.

Introduction to Dyskeratosis Congenita

Dyskeratosis congenita (DC) is a rare genetic disorder. Affected individuals exhibit a triad of skin abnormalities, nail dystrophy, and oral leukoplakia, along with progressive bone marrow failure. Additionally, individuals with dyskeratosis congenita have an increased risk of developing leukemia and cancer. Dyskeratosis congenita is extremely uncommon, affecting an estimated 1 in 1 million people.

Defects in cell proliferation and differentiation associated with dyskeratosis congenita.

Fig. 1 The defects in cellular proliferation and differentiation that give rise to dyskeratosis congenita. (Kirwan, Michael, and Inderjeet Dokal., 2009)

Pathogenesis of Dyskeratosis Congenita

In dyskeratosis congenita, mutations in genes encoding components of the telomerase complex lead to impaired telomerase function and premature shortening of telomeres. Telomere shortening over successive cell divisions eventually triggers cellular senescence or apoptosis, impacting the renewal and function of highly proliferative tissues, including the bone marrow. The following are genes associated with the occurrence of dyskeratosis congenita.

DKC1
TERC

TERT
TINF2

NOP10
NHP2

Types of Dyskeratosis Congenita Therapy

Gene Therapy

Gene therapy holds great promise for the therapeutics of dyskeratosis congenita. Using lentiviral vectors or other delivery systems, therapeutic genes can be introduced into the bone marrow or other affected tissues of individuals with dyskeratosis congenita to restore normal cell function and halt the progression of dyskeratosis congenita.

Small Molecule Therapies

Small molecules can target specific cellular pathways and molecular interactions. For example, scientists are actively screening and developing telomerase activators and telomere stabilizers that can enhance telomerase activity and prevent telomere attrition. These drug candidates may serve as potential therapeutics for dyskeratosis congenita.

Our Services

Drawing upon our deep expertise in biotechnology and extensive experience in the industry, our company offers all-encompassing solutions for diagnostic and therapeutic research dedicated to dyskeratosis congenita.

Diagnostic Development Services: For rare genetic diseases such as dyskeratosis congenita, our company offers diagnostic development services. We are dedicated to assisting you in the development of rapid and point-of-care diagnostic tests for dyskeratosis congenita, ensuring accurate and timely detection.
Therapeutic Development Services: Our company provides a wide range of services for the development of small molecule drug, cell therapy, gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein. We are experienced in utilizing lentiviral vectors for gene therapy.
Animal Model Development Service: To support the preclinical research and development of dyskeratosis congenita therapeutics, we offer animal models development services to facilitate your pharmacokinetics study and drug safety evaluation.

Genetically Engineered Models
In our company, we excel in developing genetically engineered models of dyskeratosis congenita (DC). Our team of scientists employs techniques such as gene knockouts, knockdowns, and the introduction of specific mutations to replicate the observed characteristics in humans with DC. Notably, we harness the groundbreaking CRISPR/Cas9 gene editing technology to precisely modify targeted genes, thereby creating animal models with precise genetic alterations.
Optional Models	mTR^−/− Model mTR^−/− CAST/EiJ Model mTR^+/− CAST/EiJ Model G2 mTR^−/− Model G2 mTR^−/− CAST/EiJ Model	POT1b^−/− Model POT1b^−/−mTR^−/− Model POT1b^−/−mTR^+/− Model TERC Mutation Model TERT Mutation Model	DKC1 Mutation Model TINF2 Mutation Model NOP10 Mutation Model NHP2 Mutation Model
Optional Species	Mice, Zebrafish, Drosophila, Caenorhabditis Elegans, Non-human Primates (Monkeys), Others

No matter what stage of research you are at, we can provide you with corresponding research services. If you are interested in our services, please feel free to contact us for more details and quotation information for related services.

References

Kirwan, Michael, and Inderjeet Dokal. "Dyskeratosis congenita, stem cells and telomeres." Biochimica Et Biophysica Acta (BBA)-Molecular Basis of Disease 1792.4 (2009): 371-379.
AlSabbagh, Manahel Mahmood. "Dyskeratosis congenita: a literature review." JDDG: Journal der Deutschen Dermatologischen Gesellschaft 18.9 (2020): 943-967.
Autexier, Chantal. "POT of gold: modeling dyskeratosis congenita in the mouse." Genes & development 22.13 (2008): 1731-1736.