James Hadfield, Director ctDNA and Epigenomics Oncology Translational Medicine at AstraZeneca, shared on LinkedIn:
“Rest in peace Leah – let’s raise some money for blood cancer research.
I recently posted on LinkedIn about the death of a friend and colleague. Yesterday I went to her funeral and I have written a longer form post on my Substack as a tribute to Leah Catchpole (nee Clissold) whose passing reminds us how urgently ultra-rare cancers need better diagnosis, deeper genomics and more attention.
In the post you can hear more about some of the wonderful times we shared at JIC and Earlham Institute. Whilst there were tears all round at yesterday’s funeral, especially in Stuart Catchpole’s beautiful ‘A letter to my wife’ speech, there was laughing too as we remembered the better times.
Call to action: If Leah’s story moves you, please consider donating to blood caancer uk via this MuchLoved to support better research, better treatments and better outcomes for people facing blood cancers.
The second half of this post focuses on a central paradox in oncology: ultra-rare cancers are individually few, but collectively they represent a meaningful and badly under-served patient population.
And because each diagnosis is so uncommon, these diseases struggle to attract the attention, evidence generation and investment that common cancers receive.
But that same rarity creates an opportunity: if patients can be identified, connected and enrolled across national and international networks, NGS and multi-omic approaches offer one of the few realistic ways to build knowledge quickly and systematically.
For readers in genome science, NGS and diagnostics, the key idea is that the bottleneck is often not technology, but cohort assembly. Large referral networks, registries and advocacy-led ecosystems can help pool enough patients for meaningful studies. Organisations and programmes such as EURACAN, RARECAREnet, EURORDIS-Rare Diseases Europe, the National Cancer Institute (NCI) Rare Tumors Initiative & MyPART and National Organization for Rare Disorders point to the kind of infrastructure that could turn isolated case reports into properly powered genomic studies.
This is technically plausible if we can bring enough patients together. The tech is mature enough to support deep WGS in small, highly selected cohorts at practical cost. Or for WGS combo with WGS, RNA-seq, methylation or ChIP, spatial, FLBx and liquidbiopsy for the highest clinical yield. I hope these questions resonate with diagnostics leaders thinking about clinical utility, reimbursement, workflow standardisation, assay mix, and future NHS or health-system deployment.
Finally, there is a ‘trickle-down’ opportunity: what we learn in ultra-rare cancers about assay design, data integration, variant interpretation and molecularly guided treatment selection could later be transferred into rarer sub-clones of common cancers. That makes ultra-rare disease not just a humanitarian blind spot, but a potential innovation engine for broader oncology diagnostics.”
Susan Galbraith, Executive Vice President in Oncology R&D at AstraZeneca, shared a post on LinkedIn by James Hadfield, adding :
“Thanks James Hadfield for highlighting the need to do more for patients with rare cancers. I am hopeful that the increasing pace of innovation in cancer drug development can help and that the new modalities being developed such as ADCs, radioconjugates, T cell engagers and cell therapies can be applicable to rate cancers too. It does still take focused efforts and a collaborative approach across industry and academia to develop and deliver novel medicines to patients.
Within AZ we are partnering with our colleagues at Alexion with their expertise in rare disease to develop a portfolio of medicines for rare cancers, starting first with glioblastoma multiforme (GBM). There is much more to do in this area.”