Down Syndrome
Down syndrome is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. With our company's profound expertise in Down syndrome research, we are well-equipped to offer tailored solutions and comprehensive support to facilitate your research process from Down syndrome therapy development to therapy commercialization.
Introduction to Down Syndrome
Down syndrome, also known as trisomy 21, is a genetic disorder that occurs due to the presence of an extra full or partial copy of chromosome 21. This can cause symptoms such as growth retardation, intellectual disability, and facial features. Down syndrome is relatively rare, with the incidence rate worldwide ranging from 1 in 1,000 to 1,100 live births.
Fig. 1 Symptoms and manifestations of Down syndrome. (Antonarakis, Stylianos E., et al., 2020)The genetic basis of Down syndrome lies in an abnormal cell division that results in the presence of three copies of chromosome 21, instead of the usual two copies. Three primary genetic variations can cause Down syndrome, including trisomy 21, mosaic Down syndrome, and translocation Down syndrome. Among them, trisomy 21 is the most prevalent form of Down syndrome, constituting approximately 95% of all cases.
Diagnostics Development of Down Syndrome
The diagnosis of Down syndrome involves both prenatal and postnatal stages, which is crucial for early identification and timely intervention of the disease.
Prenatal Screening
Prenatal screening is critical for early intervention for Down syndrome.
- Maternal examination: non-invasive prenatal testing (NIPT) and maternal serum screening.
- Fetal examination: ultrasound, chorionic villus sampling (CVS) and amniocentesis.
Postnatal Diagnosis
Postnatal diagnosis of Down syndrome is typically based on physical examination and genetic testing, including a karyotype analysis that reveals the presence of an extra copy of chromosome 21.
Therapeutics Development of Down Syndrome
While there is currently no cure for Down syndrome, researchers are actively exploring pharmacological interventions to address specific symptoms and improve the overall well-being of individuals with this condition. Here are some notable targets for the development of drugs for Down syndrome.
- Targets of Down Syndrome Therapy Development
| Target Name | Description |
|---|---|
| GABA Receptors | Gamma-aminobutyric acid (GABA) receptors are involved in regulating brain excitability. Altered GABAergic signaling has been observed in Down syndrome. Basmisanil is a selective negative allosteric modulator of the GABA receptor alpha-5 subtype. It is being studied for its potential to improve cognitive function in individuals with Down syndrome. |
| Amyloid Precursor Protein (APP) and Amyloid-beta (Aβ) Peptides | Research has shown that overexpression of APP due to the extra copy of chromosome 21 in individuals with Down syndrome leads to increased Aβ production. Thus, therapies that target and reduce Aβ accumulation hold promise in mitigating the neurodegenerative effects observed in Down syndrome. For example, tideglusib is a glycogen synthase kinase 3 (GSK-3) inhibitor that has the potential to reduce Aβ accumulation. |
- Types of Down Syndrome Therapy Development
Gene therapy holds promise as a potential therapy approach for Down syndrome. Researchers are exploring gene-editing technologies, such as CRISPR-Cas9, to target and modify the extra copy of chromosome 21. The aim is to correct or mitigate the effects of the additional genetic material, thereby restoring normal genetic balance and improving overall functioning. This therapy is currently under further research.
Our Services
Our company has established a comprehensive platform for developing rare disease diagnostics and therapies, encompassing small molecule drug, cell therapy, gene therapy, therapeutic antibody, therapeutic peptide, and therapeutic protein. In particular, CRISPR/Cas9-based therapy development is a promising avenue for the future development of gene therapy for Down syndrome.
Recognizing the significance of animal disease models in the therapy development for Down syndrome, we offer our expertise in establishing animal models specifically tailored for Down syndrome. These models serve as invaluable tools to facilitate the safety evaluation and pharmacokinetics study of drug candidates.
Animal Models of Down Syndrome
| Genetically Engineered Models | ||||
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| A genetically engineered animal model refers to an animal that has been specifically altered or modified at the genetic level to carry specific genetic traits or mutations. Our company excels in utilizing cutting-edge technologies like morpholino knockdown and CRISPR/Cas9 genome editing to create animal models of Down Syndrome. | ||||
| Physically Induced Models | ||||
| Down Syndrome animal models can be generated using radiation induction as a method for creating specific genetic alterations. By exposing animal embryos or cells to controlled doses of radiation, targeted genetic mutations can be induced, mimicking certain aspects of Down Syndrome. | ||||
| Optional Models |
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| Optional Species | Mice, Rats, Zebrafish, Rabbits, 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
- Antonarakis, Stylianos E., et al. "Down syndrome." Nature Reviews Disease Primers 6.1 (2020): 9.
- Herault, Yann, et al. "Rodent models in Down syndrome research: impact and future opportunities." Disease models & mechanisms 10.10 (2017): 1165-1186.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.