Shwachman-Diamond Syndrome (SDS)
Shwachman-Diamond syndrome (SDS) is a rare congenital disorder. With our proficient team of researchers and scientists specializing in SDS, we drive innovation in diagnostic tools and therapeutic drugs. As your trusted partner, we provide tailored and comprehensive services to meet your specific scientific research needs.
Introduction to Shwachman-Diamond Syndrome
Shwachman-Diamond syndrome (SDS) is a rare genetic disorder that affects multiple organ systems, including the pancreas, bone marrow, and skeletal system. It was first described by Shwachman and Diamond in 1964. The incidence of SDS is estimated to be 1 in 75,000 people.
Fig. 1 Gene mutations associated with Shwachman-Diamond syndrome (SDS). (Liu, Yi, et al., 2018)Pathogenesis of Shwachman-Diamond Syndrome
The exact pathogenesis of Shwachman-Diamond syndrome is not yet fully understood, but it is known to be caused by mutations in the SBDS gene.
- SBDS Gene
The SBDS gene provides instructions for producing the Shwachman-Bodian-Diamond syndrome (SBDS) protein, which plays an important role in ribosome assembly and function. Mutations in the SBDS gene lead to SBDS protein dysfunction, impairing ribosome assembly and affecting protein synthesis.
- Impaired Ribosome Assembly and Function
Defects in ribosome assembly and function can have significant consequences for cellular processes. Impaired protein synthesis can lead to decreased production of essential proteins, disrupting various cellular functions. This can contribute to the symptoms observed in SDS, including pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities.
Types of Shwachman-Diamond Syndrome Therapy
Small Molecule Therapy
Small molecule drugs targeting SBDS protein expression or ribosome biogenesis may help restore normal protein synthesis and alleviate disease-related cellular dysfunction. These drugs may be used to enhance ribosome assembly, correct ribosomal subunit defects, or modulate cell signaling pathways implicated in Shwachman-Diamond syndrome (SDS) pathogenesis.
Gene Therapy
Gene therapy is a promising approach for treating genetic disorders like Shwachman-Diamond syndrome (SDS). In SDS, gene therapy aims to deliver the normal SBDS gene to affected cells, thereby restoring SBDS protein expression and improving cell function.
Stem Cell Transplantation
Hematopoietic stem cell transplantation (HSCT) has shown promise in treating bone marrow dysfunction seen in Shwachman-Diamond syndrome (SDS). HSCT involves replacing a patient's defective bone marrow cells with healthy donor cells, producing normally functioning blood cells. This approach may help alleviate hematological abnormalities and improve immune function in SDS individuals.
Our Services
Our company leads the way in rare disease research and therapeutic development. We are committed to providing a comprehensive and integrated solution for diagnostic research and the development of therapeutics for Shwachman-Diamond syndrome (SDS).
Diagnostic Development Service
Our company provides diagnostic development services to assist you in developing advanced diagnostic tools for SDS to facilitate early identification and accurate diagnosis of the disease.
Therapeutic Development Service
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 to accelerate your research on SDS therapy.
Animal Model Development Service
Acknowledging the importance of reliable animal models in SDS disease research, our company is dedicated to providing services for the development of animal models, supporting preclinical investigations, and facilitating drug discovery efforts.
Animal Models of Shwachman-Diamond Syndrome
| Induced Models | |||
| Induced models involve exposing animals to specific chemicals to induce phenotypic changes similar to Shwachman-Diamond syndrome (SDS). Chemicals that induce SDS include actinomycin D, hydrogen peroxide, paraquat, cerulein, 5-fluorouracil, etc. | |||
| Xenograft Models | |||
| In the case of Shwachman-Diamond syndrome (SDS), the xenograft model allows for the engraftment of patient-derived cells, particularly hematopoietic stem cells, into animal recipients. This model enables the study of bone marrow dysfunction, hematopoiesis, and associated phenotypes observed in SDS individuals. Commonly used cell lines for xenotransplantation include KG-1, TF-1, Capan-1, etc. | |||
| Genetically Engineered Models | |||
| Our company specializes in constructing genetically engineered models of Shwachman-Diamond syndrome (SDS). Various genetic manipulation techniques, such as gene knockout, knock-in, or overexpression, are used to modify and engineer the SBDS genes to mimic the characteristics observed in human SDS. | |||
| Optional Models |
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| Optional Species | Mice, Zebrafish, Xenopus, Drosophila, 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 of related services.
References
- Liu, Yi, et al. "Shwachman-diamond syndrome protein SBDS maintains human telomeres by regulating telomerase recruitment." Cell Reports 22.7 (2018): 1849-1860.
- Bezzerri, Valentino, and Marco Cipolli. "Shwachman-Diamond syndrome: molecular mechanisms and current perspectives." Molecular Diagnosis & Therapy 23.2 (2019): 281-290.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.