Smith-Magenis Syndrome
Smith-Magenis syndrome is a rare genetic disorder characterized by a distinct pattern of physical, developmental, and behavioral features. Our company stands at the forefront of innovation in rare diseases like Smith-Magenis syndrome, offering comprehensive one-stop services to researchers and scientists dedicated to unraveling the complexities of these conditions.
Overview of Smith-Magenis Syndrome
Smith-Magenis syndrome has an estimated birth incidence of 1:15,000 to 1:25,000, making it a relatively uncommon condition. Individuals with Smith-Magenis syndrome commonly display various characteristics, including intellectual disability, distinctive facial features, sleep disturbances, behavioral challenges, and a propensity for engaging in repetitive self-injurious behaviors.
Fig.1 Common and specific features of Smith-Magenis syndrome-overlapping disorders. (Rinaldi, B., et al., 2022)
Pathogenesis of Smith-Magenis Syndrome
The underlying cause of Smith-Magenis syndrome lies in the deletion of a segment of chromosome 17 (17p11.2) that encompasses the RAI1 gene. This gene is crucial in regulating other genes associated with brain development, behavior, and circadian rhythm. Disruption of the RAI1 gene is believed to be central to the development of Smith-Magenis syndrome. It contributes to the distinctive features observed in individuals affected by the syndrome, such as cognitive impairment, sleep disturbances, and behavioral issues.
Fig.2 RAI1 gene and protein structures. (Rinaldi, B., et al., 2022)Therapeutics Development of Smith-Magenis Syndrome
Individuals with Smith-Magenis syndrome often experience significant challenges related to sleep disturbances and hyperactivity symptoms, which can have a profound impact on their quality of life. Over the years, the therapy for Smith-Magenis syndrome has mainly aimed at specific symptoms in individuals with Smith-Magenis syndrome.
| Manifestation | Drug Names | Mechanism of Action | Targets | Research Phase |
|---|---|---|---|---|
| Sleep disorder | Melatonin | Melatonin receptor agonists | MT | Approved |
| Tasimelteon | An orally bioavailable agonist of the melatonin MT1 and MT2 receptors | MT | Approved | |
| Acebutolol | A new hydrophilic, cardioselective beta-adrenergic-blocking agent | Beta-adrenoceptors | Approved | |
| Ramelteon | Melatonin receptor agonists | MT | Clinical research | |
| Hyperactivity symptoms | Methylpheniate | Block the reuptake of two neurotransmitters, norepinephrine and dopamine | / | Approved |
| Clonidine | Lowering blood pressure by stimulating alpha 2 receptors in the brain | ADRA2 | Approved | |
| Risperidone | Inhibition of the bind of D2 and 5-HT2 receptor | 5-HT2A receptor and D2 receptor | Approved | |
| rAAV-CRISPRa therapy | Increase endogenous RAI1 expression | RAI1 | Preclinical research |
Our Services
From facilitating access to cutting-edge research tools and resources to providing expert consultation services and collaborative opportunities, our company ensures that researchers have all the support and expertise they need to advance their work effectively. Through the utilization of our animal models and therapeutic development platform, we aim to improve the quality of life for individuals affected by this genetic disorder.
Animal Models of Smith-Magenis Syndrome
Animal models are essential tools in biomedical research for studying genetic and rare disorders like Smith-Magenis syndrome. Our company offers various animal models for researchers to simulate aspects of the syndrome, investigate disease mechanisms, and develop targeted interventions aimed at alleviating symptoms and improving outcomes for individuals.
| Genetically Engineered Models | ||
| Genetic engineering animal models are created by manipulating the genome of an organism to introduce specific genetic changes that mimic the genetic mutations found in human diseases. | ||
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| Optional Species | Mice, Rats, Zebrafish, Drosophila, Non-Human Primates, Others | |
Why Choose Us
We provide comprehensive services tailored specifically to meet the unique needs of researchers in the field of rare diseases including pharmacokinetic studies and drug safety evaluations. Our holistic approach to research support empowers scientists to gain novel insights into rare diseases and drive progress toward improved diagnostics and therapeutics.
If you are interested in our service, we invite you to reach out to us for the specialized services we provide.
References
- Rinaldi, Berardo et al. "Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders." Genes 13.2 (2022): 335.
- Chang, Hao-Cheng et al. "rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice." The Journal of biological chemistry 299.1 (2023): 102728.
All of our services and products are intended for preclinical research use only and cannot be used to diagnose, treat or manage patients.