Blogs, Stories & News

  • Life around the diagnosis with Leber congenital amaurosis

    Laura Steinbusch has a son, 5-year-old Enzo, who has been diagnosed with Leber congenital amaurosis 10, or LCA10. It has made Laura a patient advocate for this disease, and in this interview she explains how the diagnosis has changed her life.

    • Genetic testing
    • Blindness
    • Story
    • Leber congenital amaurosis
    Photo of Laura Steinbusch and family
  • Serving a tight-knit community

    The Netherlands boasts the most prominent patient organization for Usher syndrome. Part of their secret is the passion of the Board. We caught up with president Ivonne Bressers and the Board’s secretary Annouk van Nunen at Annouk’s home in Leiden.

    • patient advocacy
    • Genetic testing
    • Story
    • Usher syndrome
    • QR-421a
    Photo of Annouk van Nunen and Ivonne Bressers
  • Data from InSight, an extension trial for Leber congenital amaurosis 10

    During a ProQR Expert Perspective call Dr. Girach (CMO at ProQR) discusses findings from an open label extension study of sepofarsen for LCA10 with Retinal Disease expert Dr. MacDonald (Prof Emer University of Alberta).

    • Clinical trial
    • Research
    • Leber congenital amaurosis
    • Sepofarsen (QR-110)
    On the left-hand sight a face picture of Dr. Ian MacDonald and on the right-hand side a face picture of Dr. Aniz Girach.
  • Why is the patient perspective in research important?

    Podcast on how the patient's perspective can positively impact research from protocol development to clinical trials. Featuring Francesca (information specialist, living with Leber congenital amaurosis) and Laura (Fighting Blindness Ireland).

    • ProQR Talks podcast
    • Research and development
    • Leber congenital amaurosis
    • IRD general
    ProQR talks episode 2
  • Accessible information in an isolated time

    Podcast on accessible information during COVID-19 and the challenges that come with isolation. Both Molly (web accessibility consultant) and Rebecca (psychotherapist) live with Usher syndrome, a condition causing combined blindness and deafness.

    • ProQR Talks podcast
    • Accessibility
    • Usher syndrome
    • IRD general
    ProQR talks episode 1