We held our second in-person Symposium, 18th to 20th Sep 2023 at Magdalene College, University of Cambridge, UK. It was attended by over 50 researchers, clinicians, and biotech representatives from all over the world. The event was a resounding success and demonstrated the new, global, and holistic approach the Foundation has adopted to act as a nexus and bring together professionals with multidisciplinary backgrounds to work collaboratively.

The event included a two-day scientific program and a half-day patient-oriented session. Along with an excellent schedule of talks, the scientific program also included a poster session. The program was as follows:

  • Overview session
  • Developments in the Basic Scientific Understanding of Citrin Deficiency (CD)
  • Development of Novel Therapies for CD
  • Novel Diagnostic Tools and Center Initiatives to tackle CD
  • Emerging Clinical Evidence on CD
  • Global Insights on CD and Other Relevant Inborn Errors of Metabolism

The Overview Session entailed presentations by our Co-Founders on the strategic roadmap of the Foundation, and then by our Scientific Supervisory Board on what we know about CD now scientifically and medically, as well as how to address the outstanding issues through research and other efforts.

Our Novel Therapies Session was a major highlight as it detailed all the exciting potential new therapies that the Foundation has invested in or is exploring. This included: the development of mRNA therapy for CD, the potential of gene editing on CD, the development of nanoparticles to improve oral bioavailability of amino acids, small molecules focused on modulating NAD+ availability, the evaluation of aralar as a replacement for citrin, and the possibility of targeting liver glycerol-3-phosphate phosphatase and the glycerol shunt for CD.

The session “Developments in the Basic Scientific Understanding of CD” demonstrated our progress so far in the advancement of basic scientific understanding of CD which underpins our efforts in developing personalized treatments for patients.

Besides developing treatments, it is equally important to establish effective diagnostic tools and reliable biomarkers, identify more patient cohorts, and have the right strategies to bring therapies to clinics. To this end, we dedicated a session to “Novel Diagnostic Tools & Center Initiatives” to showcase our relevant ongoing efforts. Two centers being established by the Foundation are highlighted here: the UCD Translational Research Center at the University Children’s Hospital Zürich, Switzerland, and the CD Center of Excellence at Kumamoto University, Japan.

The sessions “Emerging Clinical Evidence on CD” and “Global Insights on CD and other relevant IEM” gave an opportunity for researchers and clinicians globally to present their latest understanding of CD through emerging clinical evidence and comparison with other IEMs.

The half-day patient session was heart-warming and memorable. Over 150 patients and family members joined us in person and online from Japan, Korea, Bulgaria, the United States, the United Kingdom, Germany, Indonesia, Malaysia, India, Pakistan, Austria, Vietnam, Greece and Taiwan. We are incredibly grateful to siblings Carson and Akemi Kawabata who gave live presentations about their experiences growing up with CD. We also debuted our patient video, which told the diverse stories of our membership. The video is now available for viewing on our YouTube channel.

Following the end of the official program, the Foundation invited attendees to partake in an afternoon of social networking activities and a farewell dinner.

This Symposium succeeded in providing an excellent opportunity for all participants to present their latest research findings, discuss and brainstorm new ideas, deepen our understanding of CD, and highlight areas that need to be focused on.

As we move forward, we are committed to carrying with us the spirit of collaboration, the sense of unity, and the determination that this symposium has instilled in us, leaving us confident in our ability to one day solve CD holistically.

Thank you once again to all who attended and contributed to this remarkable event. We look forward to what lies ahead.  Please watch our symposium’s highlight reel here: