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Reposted by House of Byrne Lab

Rachael Scahill @rachiscahill.bsky.social · 11/07/2025

Important paper on accessible biomarkers from @hob-lab.bsky.social. Well done Annabelle Coleman @drl-bo.bsky.social and all.

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

And finally, the biggest thank you to the participants who contributed their time and blood samples for this work. You are the reason we do what we do! 😘

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

This work was funded by the Medical Research Council under @drl-bo.bsky.social CDA fellowship. We are so grateful to them for enabling this work.

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

In conclusion, we have technically validated this finger-prick collection approach for remote quantification of NfL. We are working on applying this to our clinical cohorts so watch this space for upcoming publications on how this approach could impact clinical monitoring.

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

The HD-YAS cohort is a unique cohort of far from onset HD mutation carriers were NfL was shown to diverge from age-matched controls up to 24 years from predicted onset. The longitundinal analysis was recently published in Nature Medicine & we recommend you check it out www.nature.com/articles/s41...

nature.com

Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington’s disease decades before clinical motor diagnosis - Nature Medicine

A comprehensive longitudinal analysis of individuals with preclinical Huntington’s disease identifies biomarkers of neurodegeneration and somatic expansion in blood DNA, detectable years before sympto...

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

We replicated the consistency between NfL concentrations in venous and capillary blood samples in a confirmatory cohort (recruited from the HD-Young Adult Study). We also replicated NfL’s disease group differences and CAG dependent relationship witg age.

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

Capillary NfL showed the same clinical disease group differences as venous NfL in the multi‑disease discovery cohort. N.B. We were not powered for these group comparisons but did this to illustrate that the pattern is the same as the gold standard

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

Only NfL showed high stability after seven‑day delayed processing in venous and capillary serum and plasma in the multi‑disease discovery cohort despite a huge amount of haemolysis evident in the samples. GFAP was still correlated but clearly started to go down after 7 days delay.

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

NfL and GFAP showed high stability after three‑day delayed processing in venous and capillary serum and plasma in the multi‑disease discovery cohort. Again data falls on y=x Total protein and haemoglobin were included to the impact of delayed process on the average protein.

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

NfL and GFAP concentrations were highly correlated in venous and capillary serum and plasma in a multi‑disease discovery cohort including MS, ALS, HD, and PD participants. Notice how values lie along the y=x line of equality!

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

We first adapted a finger‑prick collection approach for NfL quantification and set up several experiments to assess whether it was the same as the gold standard venepuncture, and whether delayed sample processing would impact NfL values. We tested other potential biomarkers GFAP and Total Tau

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

Being able to monitor NfL levels remotely could minimise patient burden, increase geographical outreach for research, and allow for more frequent sampling.

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House of Byrne Lab @hob-lab.bsky.social · 10/07/2025

Neurofilament light (NfL) in blood is an indicator of ongoing neuronal injury, and so, is a strong candidate biomarker for many neurological conditions including Multiple Sclerosis (MS), Amyotrophic Lateral Sclerosis (ALS), and Huntington's Disease (HD)

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