CLOVES syndrome community: What are human induced pluripotent stem cells (hiPSCs)?

CLOVES syndrome is a type of genetic disease linked to a mutation of the PIK3CA gene, which causes tissue overgrowth and blood vessel irregularity. The mission of CLOVES Syndrome Community (CSC) is to support, educate, empower and improve the lives of those affected by CLOVES syndrome. The research uses human induced pluripotent stem cells (hiPSCs) to help expand the range of available treatments for CLOVES syndrome.

Kristen Davis founded CLOVES Syndrome Community in 2009, after her daughter Riley was diagnosed with CLOVES. At that time, no organization existed to support families and people living with this rare disease. CSC became a non-profit organization in July 2011. Kristen is a seasoned Executive Director of a global, patient-led advocacy organization with over twenty years of experience in social services and non-profit leadership.

Seth Haddix has been involved in the study and treatment of disease since 2010. He completed his Ph.D. from Texas A&M University (2019), As a postdoctoral associate at Baylor College of Medicine in the lab of Matthew Rasband, he is developing animal and cellular models, viral strategies, and unbiased proteomics techniques to investigate the development and function of the neuromuscular junction. As a newly appointed Science Advisor for CSC, Seth is excited to help explain the current state of CLOVES research and to help identify new investigatory avenues to pursue.

Ralitsa Madsen completed her PhD (2015-2018) with Prof Robert Semple at the Institute of Metabolic Science, Cambridge. Following on from a short postdoc with Prof Semple at the University of Edinburgh, Ralitsa became a postdoc with Prof Bart Vanhaesebroeck at UCL Cancer Institute (London) in September 2019. In December 2020, she was awarded a Sir Henry Wellcome Fellowship to start her independent line of research, with Prof Bart Vanhaesebroeck and Prof Julio Saez-Rodriguez (Heidelberg, Germany) as her primary and secondary research sponsors, respectively. Ralitsa’s research focuses on quantitative (or systems biology-based) understanding of class IA PI3K signalling, with a particular focus on disease-associated, activating mutations in the PIK3CA gene and the development of improved cell-based model systems for this purpose.