Gardner's syndrome represents one of the rarer genetic conditions characterized by polyps' growths in the colon and associated with some atypical extraintestinal aspects. Protheragen is foremost in novel research service provision, delivering comprehensive gastroenterological disorder drug discovery and development services, including in rare conditions like Gardner's syndrome. All specialists in our company are committed to transforming complex disease target therapy concepts into actionable therapeutic strategies.

Overview of Gardner's Syndrome

Gardner's syndrome is considered a variant of familial adenomatous polyposis (FAP) and is present in roughly 10% of FAP individuals. Its occurrence is believed to be rare, with an incidence figure ranging between 1 in 7000 to 30,000 births.

It is an inherited condition showing autosomal dominant inheritance with disorders marked by high penetrance to polyposis of the colon, multiple osteomas, and mesenchymal tumors of the skin and soft tissues. Gardner's syndrome diagnosis can be elusive because of considerable heterogeneity in manifestations outside the intestines, with some individuals exhibiting only one or two abnormalities while others may display most or all characteristic traits.

Fig.1 Gastrointestinal pathological evaluation. (Zeng, M., et al., 2024)

Pathogenesis of Gardner's Syndrome

Gardner's syndrome is a genetic disorder characterized by the presence of multiple polyps in the intestine and associated skeletal, skin, dental, and ocular malformations due to mutation of the adenomatous polyposis coli (APC) gene located on 5q21-22. This is a tumor suppressor gene and it encodes the APC protein which is responsible for regulating cell growth through the time of different stages of the cell cycle. People suffering from Gardner's syndrome have a mutation in this gene which is associated with excessive cell proliferation.

Fig.2 A family tree illustrating the affected members. (Yu, D., et al., 2018)

Therapeutics Development for Gardner's Syndrome

The foremost therapy for Gardner's syndrome is usually polyp's surgical excision. Some therapeutic effects were observed in some cases with the use of nonsteroidal anti-inflammatory drugs along with cyclooxygenase-2 inhibitors such as sulindac or celecoxib may help reduce inflammation and prevent the growth of polyps.

Our Services

Protheragen's vast experience and sophisticated infrastructure allow other scientists and pharmaceutical firms to expedite their workflows from concept to implementation. Our service portfolio encompasses nearly all aspects of preclinical research, extending from diagnostics and therapeutics to the creation of disease models. We integrate modern technologies and strict scientific criteria and conduct pharmacokinetic and safety studies of the drugs.

Therapeutic Development Services

• Small Molecule Drug
• Cell Therapy Development
• Gene Therapy Development
• Therapeutic Antibody

• Therapeutic Peptide
• Therapeutic Protein
• Microbiome Therapeutic
• More

Animal Model Development Services for Gardner's Syndrome

Animal models are essential for studying the molecular mechanisms of Gardner's syndrome, attempting preventive strategies, and evaluating emerging therapies directed toward the aberrant signaling pathways caused by APC mutations. We have developed deep expertise in both genetic engineering and chemical mutagenesis animal models for Gardner's syndrome and provide complete services for animal model development.

Using genetic engineering technology or chemical mutagen N-ethyl-N-nitrosourea (ENU) to generate the Apc mutant model.

Optional models: Apc1576 mutant model, Apc^Min/+ model, other models.

Protheragen collaborates with clients on the drug research and development of rare gastrointestinal diseases, making certain that their research and innovations, as well as the quality of their outputs, are excellent. To meet the astonishing gap in research as well as aid in the development of novel solutions, we offer our comprehensive research services. For any additional questions about the requested services, don't hesitate to contact us.

References

• Yu, Dan et al. "Bone and dental abnormalities as first signs of familial Gardner's syndrome in a Chinese family: a literature review and a case report." Medecine sciences: M/S 34 (2018): 20-25.
• Zeng, Ming et al. "A novel APC mutation associated with Gardner syndrome in a Chinese family." Gene 896 (2024): 148051.

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