PACS2 Family Visits Oxford-Harrington Rare Disease Centre

July 27, 2023

Piotr and Gosia Kosla together with their daughters

This month the Oxford-Harrington Rare Disease Centre (OHC) team met with Piotr and Gosia Kośla from the PACS2 Research Foundation, together with their daughters. Piotr and Gosia have worked tirelessly to establish the PACS2 Research Foundation and its activities since their daughter, Lena, was diagnosed with a very rare mutation in the PACS2 gene 18 months ago. 

Prof Carlo Rinaldi, OHC’s Neurological Disorders Theme Lead, and his team have committed their expertise to developing an RNA editing therapy for PACS2 mutations, such as the one affecting Lena. Since its inception, the PACS2 Research Foundation has established an extensive network of resource and expertise addressing the challenge of developing a therapy for PACS2 syndrome. 

The discussion with Piotr and Gosia was inspiring and highlighted the importance of collaboration to achieve the common goal of rare disease therapeutics development. The OHC is delighted to collaborate on this important effort, and looks forward to working closely with Piotr and Gosia and their Foundation to develop much needed therapies for Lena and other children affected by PACS2 syndrome. Read more here.