Williams Syndrome (WS)
The main obstacles in developing therapies for Williams syndrome (WS) include addressing the 7q11.23 microdeletion's multisystem impacts as well as blood-brain barrier restrictions for neurocognitive therapies. Given Protheragen's extensive experience in WS therapeutic development, we are optimally placed to offer tailored strategy and holistic assistance to advance your WS therapy research through to commercialization.
Overview of Williams Syndrome (WS)
Williams syndrome (WS), or Williams-Beuren syndrome (WBS), is a rare neurodevelopmental disorder stemming from a hemizygous microdeletion of approximately 1.5 to 1.8 megabases on chromosome 7q11.23. This deletion affects 26–28 genes, including ELN (elastin), LIMK1, and GTF2IRD1, causing a blend of multisystem complications. WS is diagnosed in 1 in 7500 to 10000 individuals and 20-30000 people are estimated to suffer from the disorder in the United States.
Fig.1 Oxidative stress and genetic syndrome, a focus on Down and Williams-Beuren syndromes. (Ferrari M, Stagi S., 2021)
Pathogenesis of Williams Syndrome (WS)
Williams syndrome (WS) results from a hemizygous deletion of approximately 1.5 to 1.8 megabases on chromosome 7q11.23 leading to dissection of 26–28 genes including ELN (elastin), LIMK1, and GTF2IRD1. ELN haploinsufficiency causes cardiovascular defects because of insufficient elastin deposition. Also, the loss of LIMK1 contributes to some visuospatial deficits because of perturbed actin networks in neurons. Neurocognitive abnormalities and hypersociability associated with GTF2IRD1 loss are likely from altered transcriptional regulation in circuitry dedicated to social behavior, which governs the so-called social-brain networks.
Therapeutic Development for Williams Syndrome (WS)
| Drug Names | Mechanism of Action | Targets | Research Phase |
| Buspirone | Partial agonist of 5-HT1A serotonin receptors; modulates anxiety and social behavior by increasing prefrontal cortex serotonin activity. | 5-HT1A receptor | Early research |
| Losartan | Angiotensin II receptor blocker (ARB); reduces TGF-β signaling and fibrosis, improving vascular elasticity by compensating for ELN haploinsufficiency. | AT1 receptor | Early research |
Disclaimer: Protheragen focuses on providing preclinical research services. This table is for information exchange purposes only. This table is not a treatment plan recommendation. For guidance on treatment options, please visit a regular hospital.
Our Services
Recognizing the complexity of diagnosing and treating Williams syndrome (WS), Protheragen is committed to building a team of experts to provide cutting-edge diagnostic and therapeutic development solutions. Our commitment lies in providing a variety of customized therapy development services to meet the diverse research needs of our customers. We also excel in generating precise disease models that are carefully engineered to replicate the unique features of WS.
Therapeutic Development Services
By Mechanism of Action
Disease Model Development Services
- 7q11.23 Microdeletion Model: Replicate the characteristic 1.5-1.8 Mb hemizygous deletion on chromosome 7q11.23.
- Gtf2ird1-Overexpressing Model: For studying the specific role of the neurobehavioral and sensorimotor abnormalities in Williams syndrome.
At Protheragen, we are committed to validating and optimizing therapies for Williams syndrome (WS) through preclinical studies including pharmacodynamics (PD), pharmacokinetics (PK) and toxicology to ensure their successful regulatory approval. If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
Reference
- Ferrari M, Stagi S. Oxidative stress in Down and Williams-Beuren syndromes: an overview[J]. Molecules, 2021, 26(11): 3139.