Congenital Cerebrovascular Disorders- From Clinic To Bench and Back

Administrator: Moran Hausman-Kedem

Emerging targeted treatments for congenital cerebrovascular disorders- Current State and Future Directions
Moran Hausman-Kedem

Recent advancements in genetic analysis have facilitated the identification of specific genes and genetic variants responsible for different types of congenital cerebrovascular disorders and have opened the door to the development of targeted therapies aimed at addressing underlying genetic abnormalities. In recent years, several targeted therapies have been developed and studied for the treatment of vascular malformations, including arteriovenous malformations (AVMs) and cavernous malformations (CMs), and have shown positive results in early clinical trials. Current targeted treatments for congenital cerebrovascular disorders include gene therapy, pharmacological treatments, and neuro-interventional procedures. Studies have shown that MEK inhibitors can effectively shrink AVMs and reduce the risk of bleeding. For CMs, beta-blockers such as propranolol have shown promise in reducing the frequency and severity of headaches associated with these malformations. Additionally, REC-194 is a monoclonal antibody that has been developed specifically to target and remove abnormal blood vessels associated with CMs and has shown positive results in early clinical trials. 
This lecture will review emerging targeted treatments for a spectrum of congenital cerebrovascular disorders and discuss advancement in their management.

ACTA2 MSMDS Gene Therapy Development- from bedside to bench and back
Patricia Musolino

The presentation will provide an in-depth analysis of the pathogenesis and natural history of ACTA2 MSMDS, a rare and complex disease affecting smooth muscle cells. Using a "patient to bench side and back to the patient" model, the talk will highlight recent advancements in the understanding of the disease and the development of targeted therapy, including gene therapy. The establishment of a mouse model for ACTA2 MSMDS has opened up new avenues for research and has allowed for the testing of potential therapeutic agents. The presentation will also focus on the development of gene therapy, which has shown promising results in preclinical studies. Gene therapy aims to correct the genetic abnormalities underlying the disease and replace the defective ACTA2 gene with a functional one. The talk will review the current state of knowledge in this field and provide insights into the potential of gene therapy for the treatment of ACTA2 MSMDS. This presentation will be of great interest to clinicians, researchers, and patients alike, providing valuable information on the latest developments in the diagnosis, management, and treatment of this fascinating disease.