Mitra Sh Sato

Some of my PhD work is now out in preprint!
We present a large, ethnically diverse UK case series of childhood-onset psychosis- a v. rare and severe form of schizophrenia. Grateful to all the participants and co-authors!
📍 researchsquare.com/article/rs-6... #genomics #psychiatry #phdlife

Transcriptomics in the era of long-read sequencing Nature Reviews Genetics, Published online: 28 March 2025; doi:10.1038/s41576-025-00828-zAdvances in long-read sequencing are driving the implementation of these technologies for transcriptome profiling. The authors provide a comprehensive guide to long-read RNA sequencing, including experimental and computational tools, current applications, challenges and opportunities.

FYI: New online! Transcriptomics in the era of long-read sequencing

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thous...

🚨I could not be more excited to share our new preprint on saturation genome editing of the small nuclear RNA (snRNA) RNU4-2:
www.medrxiv.org/content/10.1...

A super fun collaboration with incredible duo @gregfindlay.bsky.social @joachimdejonghe.bsky.social from @crick.ac.uk
🧬🖥️🩺

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Couldn’t attend the powerful TED -style talks at #ACMGMtg25? Watch now: bit.ly/4jRdomz. Want more? Get 60+ hours of ACMG Annual Meeting content on demand with the Digital Edition: bit.ly/DigEd25 #MedicalEducation

Talk about impactful: ReNu syndrome linked to the RNU4-2 variation was discovered this time last year & now a global community has grown around those affected by the disease: www.renusyndrome.org/map

To better understand ADHD and unlock targeted therapies we must
1) close diagnostic gaps
2) build diverse and representative cohorts

only then will the science be robust enough to benefit everyone.

This matters! When ADHD is under diagnosed, especially in underrepresented groups (diverse populations), research outcome can be skewed, gene discovery limited and equitable progress delayed.

YouTube video by Dr Susan Young Why we are failing people with ADHD in UK? | What to do about it.

www.youtube.com/watch?v=oYFr...

Meanwhile, Dr S.Young's overview of ADHD makes clear that
a) ADHD is often missed in women, inattentive sub-types and high functioning individuals
b) comorbidities e.g. anxiety and depression can mask core symptoms
c) 1 in 5 young people in the UK transition to adult ADHD services successfully

Both KDM5B and EP400 support the growing evidence that epigenetic and transcriptional dysregulation may play a role in the condition's aetiology. However, it's early to say. We need larger, ancestrally diverse cohorts for more confident gene discovery.

Rare Variant Analyses in Ancestrally Diverse Cohorts Reveal Novel ADHD Risk Genes Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder, but its genetic architecture remains incompletely characterized. Rare coding variants, which can prof...

A second study analysed over 8K cases and 1049 trios from a more diverse cohort (NFE, AFR, AMR) and found EP400 to have a higher burden of damaging variants in AFR vs NFE - after adjusting for ancestral background. doi.org/10.1101/2025...

expanding the cohort (+3K cases) revealed KDM5B as a high confidence ADHD risk gene. KDM5B is also linked to other ND phenotypes (ASD, DD, cognitive traits) however the two identified probands with ADHD had no other comorbidities - highlighting the associated pleiotropy with KDM5B

A WES trio study found x1.93 enrichment of ultra rare PTVs in ADHD cases vs controls. doi.org/10.1038/s414...

ADHD is ~80% heritable based on twin studies.
Common variants explain ~30% of the missing heritability.

ADHD is one of the most heritable neurodevelopmental conditions yet it remains under-identified, under-diagnosed and misunderstood. a short 🧵

The expanding global genomics landscape: Converging priorities from national genomics programs As the global landscape of genomics continues to expand, evaluation is needed to inform the design of current and future genomics initiatives. Six key priorities emerged from reviewing and synthesizin...

The global landscape of health genomics is expanding rapidly, with an increasing number of national and international initiatives, many of which are targeted toward accelerating clinical implementation of genomic technologies & services in the context of health systems. www.cell.com/ajhg/fulltex...

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results We identified actionable variants in research cohort volunteers and implemented the return of results to participants. We detail this process, from exome sequencing through pipeline development, varia...

📣New from the Viking Genes study!
📄Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results