Meet the Lowe Syndrome family

25.09.23 When researchers, families, patients and advocates join forces

Lowe syndrome is a rare X-linked genetic disease particularly affecting the eyes, brain and kidneys. In May 2023, in Italy, a conference gathered researchers, clinicians, patient associations and patients from seven countries.  A special contribution was a talk from Paul James, who has Lowe syndrome.  His message was one of seeing the positives, despite the difficulties.  He also highlighted how the language used to describe Lowe syndrome can be improved. New introductions and collaborations were established to propel research forward.  The patient advocates present were informed and equipped to communicate the research needs and funding imperative to patrons and sponsors.  Get a glimpse of the inclusive spirit of the meeting in this new video.