Neil Ward

Pleased to share our new preprint “Long-read genome sequencing resolves a complex structural variant involving TBCD and exposes a gap in existing variant classification frameworks” #Genomics" target="_blank" rel="nofollow noopener">researchsquare.com/article/rs-962… #RareDisease

@prof_horvath It is great to see GrimAge ports over from the methylation Arrays to HiFi sequence data. I wonder if it’s possible to make even more accurate clocks based on the 28M CpG sites available in large scale #HiFi datasets such as the Estonia 10K samples @ESTBiobank

Advances in precision geriatrics. GrimAge methylation clock works in centenarians. Striking new preprint from the Henne Holstege lab (Yaran Zhang et al., 100-plus Study) in n=247 cognitively healthy Dutch centenarians: GrimAge predicts mortality at extreme old age (HR ≈ 1.6 per SD increase). New to me that GrimAge still discriminates past 100. Mechanism: GrimAge tracks the age-related myeloid shift in peripheral blood (monocyte/lymphocyte ratio r = 0.47). Consistent with declining adaptive immunity and expanding innate compartment. But the myeloid shift doesn't fully explain the signal. After adjusting for MLR and RBC, GrimAge still predicts mortality (HR = 1.27). GrimAge is reading something beyond immune-aging. Interestingly, GrimAge is uncorrelated with cognitive assessment (MMSE r = −0.04) and plasma NfL (r = 0.12), i.e. independent of brain aging. While MMSE predicts short-term mortality (1–3 years), GrimAge predicts longer-term mortality (>3 years). Combining them improves mortality prediction. Zhang et al (2026) Peripheral Epigenetic Aging Predicts Survival in Cognitively Healthy Centenarians Independent of Brain Aging-Related Biomarkers medrxiv.org/content/10.648…

A monumental moment in medical history: the first gene therapy for genetic hearing loss is now FDA approved. As a former Regeneron scientist, I feel very proud. I had the opportunity to hear about this programme while it was still in development. It’s one of the few programmes that, every time you came across it, you felt the medical breakthrough in your bones and privileged just to be there while it was happening. At this moment, it’s important that we look 30 years back when researchers mapped a locus on chromosome 2 to congenital deafness in a Lebanese family (pubmed.ncbi.nlm.nih.gov/8789454/). They named it DFNB6 (later DFNB9) with no clue about the responsible gene. Three years later, the causal gene came to light: OTOF, encoding a protein called otoferlin (nature.com/articles/ng049…). Seven years after that, in 2006, pioneering work by Christine Petit revealed that otoferlin is a calcium sensor in the inner hair cell membrane, acting as a molecular trigger that converts sound into electric signals that the brain can read (pubmed.ncbi.nlm.nih.gov/17055430/). Twenty years fast forward, we now have a successful treatment. Thirty years from discovery to medicine. OTOF-related deafness is congenital, caused by complete deficiency of otoferlin. In these children, the cochlea is structurally intact, hair cells are there, the mechanics of sound transmission work. It’s just that final step, where hair cells hand off the signal to the auditory nerve through neurotransmitter release, that doesn’t happen. Sound arrives and dies at the synapse. It’s deafness due to a defect in the synapse caused by the absence of a single protein, which is what made this a beautiful, clean target for gene therapy. The treatment itself is a feat of molecular engineering. OTOF is too large to fit in a single AAV capsid. The team solved this elegantly by delivering the gene in two halves separately, which then get spliced to produce the full functional protein. A single surgical injection into the cochlea, a molecular miracle unfolds. Results from the CHORD trial were striking: of 20 evaluable patients, including children as young as 10 months, 80% showed meaningful hearing improvement, and by 48 weeks, 42% had achieved normal hearing including the ability to hear whispers. Otarmeni is not only the first gene therapy for deafness, it’s also the first dual-AAV therapy to be approved by the FDA. There are very few things in medicine that come close to giving back a sense like vision, hearing, or touch that a human never had from birth. It’s almost God’s work. A parent witnessing their child who was born deaf hearing their voice for the first time, it’s a joy that no words can describe. Multiply that by the fact that it came from a single injection, a repaired gene, and 30 years of science. We are truly in the golden era of medicine. Regeneron press release: investor.regeneron.com/news-releases/… Below video is from the NEJM publication of CHORD trial (Valayannopoulos et al. NEJM 2025) nejm.org/doi/full/10.10…

Today the U.S. FDA approved our medicine – the first and only gene therapy for genetic #hearingloss – signaling a new era where enabling 24/7 natural hearing is now possible. We are proud to make this available for free in the U.S. Read more: bit.ly/4e6f2Rx

It’s always nice to hear of rare disease patients getting access to novel therapies bbc.co.uk/news/articles/…

Basecamp Research Selects PacBio HiFi Sequencing to Power Trillion Gene Atlas Initiative - PacBio pacb.com/press_releases…

A single shot that slows your biological clock. Five aging markers improved. Benefits lasting 4+ years. New study (n=3,884, US Health and Retirement Study) Shingles vaccination was associated with: -> Lower inflammation (p=0.003) -> Slower epigenetic aging (p=0.0001) -> Slower transcriptomic aging (p<0.0001) -> Lower composite biological aging score (p=0.0002) The mechanism: chickenpox virus hides in your nerve cells for life. As you age, it reactivates silently, fueling chronic inflammation even without causing shingles. Suppressing that reactivation removes a hidden accelerant of biological aging. The shingles vaccine is recommended for adults 50+ and covered at no cost by most insurance plans. Vaccines aren’t just for preventing infection anymore. They’re longevity tools.

Great to be featured in @pharmatimes sharing my insights on five genomic trends set to reshape research and healthcare in 2026. Read the full piece here.👉 bit.ly/49ZtkQ4 #Genomics

@coregenomics @DrJasPlummer @Mq1Michael @trevoragraham @AlastairGreyst2 @naserturabi @cmc_rodrigues @stephensammut @whatchamacaulay @irenepapatheodo @markeffingham @PeterFromen @nat_twine @StephanBeck6 @timaitman See you there @coregenomics

@DrJasPlummer @Mq1Michael @BlundellLab @trevoragraham @AlastairGreyst2 @naserturabi @cmc_rodrigues @stephensammut @whatchamacaulay @irenepapatheodo @markeffingham @PeterFromen @nat_twine @GenomicsUK @StephanBeck6 @timaitman

I'm coming to @FoGenomics next week. There's a great lineup of speakers (I'm particularly intersted in the Cancer Dx session) & hopefully time for a chat. If you are going please say hi if you see me. @generoom @ecuppen @clare__turnbull @mattloose @uclgenomics @adbegg @DeciBio

Great to be featured in @DrugTargetRev, sharing my predictions on how AI will reshape genomic analysis in 2026, and why collaboration with AI leaders will be critical as data volumes soar. Read the full piece here.👉 bit.ly/49wtGis #Genomics

It’s great to be featured in @PharmTechGroup, discussing how AI will play a key role this year in analysinggenomic data at scale.   Read the full piece here.👉bit.ly/4aZPfJc    #Genomics

In @AZoLifeSciences’ latest eBook, I share my prediction on how AI will transform genomic analysis in 2026,  unlocking new ways to scale research and tackle long-standing industry challenges.   Read more here: bit.ly/4564rRf   #Genomics #AI

In @biosciencetoday, I share how Western-centric genomic datasets are holding back research into Alzheimer’s, and how a PacBio and Davos Alzheimer’s Collaborative project is helping to overcome this challenge. Read more here 👉bit.ly/49fYDHz #Genomics

Today with @RandDWorld, I shared my predictions on how AI will transform genomics analysis in 2026, and the legacy of the Huntington’s breakthrough in advancing research into repeat expansion disorders.   Read the full piece here.👉bit.ly/3MHC59J   #Genomics

I’m featured alongside PacBio’s CEO @Christian Henry in @Biocompare, sharing my thoughts on how AI will transform genomic data analysis in 2026, allowing researchers to understand even the most complex biology.   Read the full piece here.👉bit.ly/4j0dtVv   #Genomics

Today with I shared my thoughts with @TechRound on how AI is set to transform genomic data analysis in 2026. Natural language analysis will become a reality and accelerate population-scale studies. Read the full piece here.👉bit.ly/48vOCEb #Genomics

In @SelectScience, I discuss how advances in long-read sequencing could enable a simple, comprehensive genetic test that reduces the ‘diagnostic odyssey’ for those suffering from rare diseases. Read the full piece here.👉bit.ly/3Y1BodD #Genomics

Congratulations to all the #HiFiSolves consortium on their latest paper:HiFi sequencing accurately identifies clinically relevant variants in paralogous genes medrxiv.org/content/10.110…

After an evaluation of various technologies, long-read whole-genome sequencing is at present the only reliable approach to confirm the absence of foreign DNA in genome-edited crops go.nature.com/3WbbKlW rdcu.be/eMdWr