How did you first become aware, and part of, the Niemann-Pick community?
I first became aware of the Niemann-Pick diseases as part of my PhD-project (ca. 2007) where I tried to understand the interplay of heat shock proteins, lysosomes, acid sphingomyelinase and cell death. As part of these efforts, I collaborated with Prof. Konrad Sandhoff and Prof. Ed Schuchmann, but it wasn’t until after the publication of the data in 2010 and an invitation by a certain Professor Frances Platt to present these findings at a Biochemical Society meeting in London, that I became aware of how close the patient organizations, academics and clinician worked together in this field.
During a conversation with Fran at the conference (where I hoped to convince Fran to collaborate on exploring the potential of my new discoveries), Fran told me about a conference that I must attend: The NPUK family conference which would take place in September.
I thus attended my first NPUK family conference in September 2010, and besides 2012 where my youngest son was born some weeks ahead of schedule and 2017, where I was taking Orphazyme public, I have been attending (and often presenting) at all the NPUK conferences since 2010, as well as attending the NNPDF and the Parseghian conferences as often as my schedule would allow.
So, I guess I see myself as having been part of the community since 2010, with my role having been very much on the biotech side, i.e. trying to explore if my scientific discoveries could eventually be translated to a potential therapy for the Niemann-Pick diseases in close collaboration with the patient community and expert academics and clinicians. This is also where my passion lies: trying to understand and apply science to hopefully develop meaningful therapies – something I strongly believe that we can only achieve if we all collaborate.
What motivates you to advocate on behalf of the community as a Trustee?
We are all in this together. I might not have a relative affected by Niemann-Pick, but since my first NPUK meeting, I have admired and respected the astonishing efforts being done by the NPUK at all levels. The hospitality, the openness, the passion and the perseverance by patients, caregivers, academics and clinicians involved and associated with the NPUK is something very special – it is something that has deeply affected me and kept reminding me of what is important in life. This is a special thing, and I would therefore like to give back to the community as best I can.
What are your hopes for the future of the community? What do you hope we can achieve together?
I hope that we stay open and keep the culture of helping and supporting each other, whatever our lot in this may be. I hope, and trust, that we together can aid in the development of not one, but several treatments for the Niemann-Pick diseases in the years to come.
Thank you for taking the time to sit down with us Thomas, we are looking forward to seeing the positive progress you will no doubt help us to make! If you’d like to ask Thomas any further questions you can reach him at thomas@npuk.org
