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Kuldeep Kumar

@kkumar.bsky.social
77 followers 132 following 4 posts

Postdoc, Lab-Jacquemont, CHUSJ Research Center, University of Montreal. Investigating the impact of CNVs on the human brain. IIT-Engineer-ISRO-Neuro-Genetics.

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Reposted by Kuldeep Kumar
Cedric Boeckx @cedricboeckx.bsky.social · 17/04/2026
Terrific @science.org study by Alex de Casien @bogglerapture.bsky.social and collaborators, examining in great detail the sex effects on gene expression across the human cerebral cortex at cell type resolution 🧪🧬🧠
science.org
Science | AAAS
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Mike Inouye @mikeinouye.bsky.social · 28/03/2026
An in silico framework for evaluating PRS-guided prognostic enrichment in clinical trial design www.medrxiv.org/content/10.6...
medrxiv.org
An in silico framework for evaluating PRS-guided prognostic enrichment in clinical trial design
Background Clinical trials are essential for therapeutic development but increasingly face challenges due to imprecise inclusion criteria, leading to low event rates and the need for large sample size...
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Reposted by Kuldeep Kumar
Will Snyder @willsnyder.bsky.social · 09/03/2026
How may rare vs. common genetic variation separately influence how our brains – and their complex folding patterns – take shape? 🧬 🧠 Check out our new preprint (and final work from my PhD!) out now! ( + thread below) www.biorxiv.org/content/10.6...
biorxiv.org
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Nature Portfolio @natureportfolio.nature.com · 28/01/2026
A paper in Nature presents AlphaGenome, a deep learning model that can predict the function of long DNA sequences, up to one million base pairs. The tool can predict how DNA sequence variations affect different biological processes. go.nature.com/4t5JQa7 🧬 🧪
This is figure 1, which shows AlphaGenome model architecture, training regimes and comprehensive evaluation performance.
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The Transmitter @thetransmitter.bsky.social · 03/11/2025
Many of our big insights into brain function come from trying to mimic it, writes @timothyoleary.bsky.social. This lesson should guide how we organize research programs. www.thetransmitter.org/systems-neur... #neuroskyence
thetransmitter.org
Neuroscience needs engineers—for more reasons than you think
Adopting an engineering mindset will help the field focus its research priorities.
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Varun Warrier @vw1234.bsky.social · 01/10/2025
This was a fantastic collaboration with lots of people including @hilarycmartin.bsky.social @jakobgrove.bsky.social, Experts by Experience, and several others who I can't seem to find on this app. Article: www.nature.com/articles/s41...
nature.com
Polygenic and developmental profiles of autism differ by age at diagnosis - Nature
A study of several longitudinal birth cohorts and cross-sectional cohorts finds only moderate overlap in genetic variants between autism that is diagnosed earlier and that diagnosed later, so they may represent aetiologically different conditions.
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Nature Portfolio @natureportfolio.nature.com · 01/10/2025
The age that autism is diagnosed may partly reflect underlying biological and developmental differences among individuals with autism, according to a study in Nature. go.nature.com/4gQ5gSV 🧬 🧪
This is figure 1, which shows the trajectory analyses in three of the four birth cohorts.
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Reposted by Kuldeep Kumar
The Transmitter @thetransmitter.bsky.social · 07/09/2025
The same genes can have disparate, sometimes opposing, effects on neuropsychiatric conditions, a study finds. By Natalia Mesa www.thetransmitter.org/spectrum/aut...
thetransmitter.org
Autism-linked copy number variants always boost autism likelihood
By contrast, varied doses of the same genes decrease or increase the odds of five other conditions, with distinct biological consequences, two new preprints show.
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Eric Topol @erictopol.bsky.social · 25/08/2025
p-tau217 predicts cognitive changes prior to any cognitive impairment (again) "The era of disease-modifying therapy in Alzheimer's disease is just starting." jamanetwork.com/journals/jam... jamanetwork.com/journals/jam...
jamanetwork.com
p-Tau 217, Tau PET, and Cognition in Preclinical Alzheimer Disease
This diagnostic/prognostic study examines longitudinal data from studies of older patients without cognitive impairment to consider whether plasma phosphorylated tau 217 and tau positron emission tomo...
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Boris Bernhardt @borismontreal.bsky.social · 24/08/2025
New paper🥳 🧠 In TLE, brain changes go beyond the temporal lobe & beyond normal aging. Our ENIGMA study (769 patients, 18 sites) found widespread gray & white matter decline, especially after 55. By Judy Chen and a terrific intl' team Time for earlier diagnosis & deeper research bit.ly/3HRYeQt
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bioRxiv Neuroscience @biorxiv-neursci.bsky.social · 23/08/2025
Age-related cerebello-thalamo-cortical white matter degradation and executive function performance across the lifespan www.biorxiv.org/content/10.1101/202…
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Steve Smith @fmrib-steve.bsky.social · 22/08/2025
Latest processing of UK Biobank brain imaging data - now with 82,000 usable first-scan datasets. Correlating brain IDPs with 13,000 non-imaging variables gives a rich manhattan-stye plot. 324,000 Bonferroni-significant associations.
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Zhiqiang Sha (X: @sha_zhiqiang) @zhiqiangsha.bsky.social · 11/08/2025
💥🧠🧬Finally out!! Our new paper on the overlapping genetic basis of brain structures and psychiatric disorders has been published in Nature Mental Health. The full list of shared genetic loci is also available online. Thank you so much, Aaron and all co-authors. www.nature.com/articles/s44...
nature.com
The overlapping genetic architecture of psychiatric disorders and cortical brain structure - Nature Mental Health
This study highlights sex differences in major depressive disorder using resting-state functional magnetic resonance imaging. Findings suggest hormonal fluctuations influence onset, emphasizing the ne...
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katja heuer @k4tj4.bsky.social · 27/07/2025
1 To predict the behaviour of a primate, would you rather base your guess on a closely related species or one with a similar brain shape? We looked at brains & behaviours of 70 species, you’ll be surprised! 🧵Thread on our new preprint with @r3rt0.bsky.social , doi.org/10.1101/2025...
Brain Surfaces of 70 primate species
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Thomas Nichols @nichols.bsky.social · 17/07/2025
For me, this work is a classic @ohbmofficial.bsky.social story: In 2023 I wasn't working with @bttyeo.bsky.social but I overheard him at his poster pointing to some accuracy curves saying "I don't why they have this particular shape". That kicked off the collab that led to these results.
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Jonathan Sebat @sebatlab.bsky.social · 16/07/2025
The field of neuroscience views the goal of human genetics as "finding genes". This is an outdated view. In whole genome studies of rare variants, finding genes is the easy part. The more interesting and important goal is to map out the causal pathway from genes to brain function to cognitive traits
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Jonathan Sebat @sebatlab.bsky.social · 16/07/2025
As we have learned, genes have dose-dependent effects on psychiatric traits. DOSAGE, it turns out, is a key element that helps unravel mechanisms of gene → pathway → cell type → brain region → diagnosis. Here we developed a framework to characterize cellular processes that mediate genetic effects.
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Kuldeep Kumar @kkumar.bsky.social · 16/07/2025
PGC-CNV paper led by Bank and @sebatlab.bsky.social et al. using Gene Set Burden Analysis across 6 disorders. "Psychiatric disorders converge on common pathways but diverge in cellular context, spatial distribution, and directionality of genetic effects" www.medrxiv.org/content/10.1...
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Joni Coleman @jonicoleman.bsky.social · 27/06/2025
What's going on in psychiatric genetics? The @pgcgenetics.bsky.social have now published our latest progress review in @thelancetpsych.bsky.social, highlighting discovery, and laying out a map for moving forwards! www.thelancet.com/journals/lan...
thelancet.com
The Psychiatric Genomics Consortium: discoveries and directions
Research by the Psychiatric Genomics Consortium (PGC) has advanced the discovery of common and rare genetic variations that contribute to the susceptibility to many psychiatric disorders and neurodeve...
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Sten Linnarsson @sten.linnarsson.org · 19/06/2025
Heads-up for major new faculty search at KI — with great startup packages and a wide range of subject areas.
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Reposted by Kuldeep Kumar
Broad Institute @broadinstitute.org · 29/05/2025
A new combination technique enables DNA sequencing and high-resolution imaging in intact cells — offering new insights into progeria and aging. broad.io/expansion-in-situ @jbuenrostro.bsky.social
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Nico Dosenbach @ndosenbach.bsky.social · 23/05/2025
Stimulants rescue cognition and brain functional architecture if you didn’t sleep enough … short term: www.biorxiv.org/content/10.1... Is it possible that this is a true rescue, or is it just a temporary cover up and there will be a price to pay … maybe decades later? Asking for a friend.
biorxiv.org
Stimulant medications affect arousal and reward, not attention
Prescription stimulants such as methylphenidate are being used by an increasing portion of the population, primarily children. These potent norepinephrine and dopamine reuptake inhibitors promote wake...
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Benjamin Kay @benjaminkay.bsky.social · 22/05/2025
My med school textbook says stimulants like Ritalin treat hyperactivity by “stimulating” the brain’s attention and cognitive control systems. We studied children taking stimulants in the ABCD Study, and the largest differences were actually in arousal and reward networks! Check out our preprint!
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medRxivpreprint @medrxivpreprint.bsky.social · 20/04/2025
Cortical differences across psychiatric disorders and associated common and rare genetic variants www.medrxiv.org/content/10.1101/202…
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medRxivpreprint @medrxivpreprint.bsky.social · 27/02/2025
Gene dosage architecture across complex traits www.medrxiv.org/content/10.1101/202…
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Kuldeep Kumar @kkumar.bsky.social · 27/02/2025
"Gene dosage architecture across complex traits". Excited to share our work led by the excellent @KazemSayeh (joint co-author). We will post a detailed 🧵 in the coming days. Please reach out if you have any questions. www.medrxiv.org/content/10.1... #CNVs #GeneDosage #UKBB
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Bratislav Misic @misicbata.bsky.social · 20/12/2024
The effect of spherical projections on spin tests for brain maps | biorxiv.org/content/10.1... Spin tests are the de facto null model for map-to-map comparisons in brain imaging. Why don't they perfectly control false positives? @vincebaz.bsky.social explores ⤵️
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Kuldeep Kumar @kkumar.bsky.social · 11/12/2024
Interested in how cortical alterations in neurodevelopmental & psychiatric disorders (ASD, ADHD, BD, SCZ,...) relate to those observed in rare genetic risk for these conditions. Visit our poster tomorrow @acnporg.bsky.social We show discordance between CT/SA, impact of medication, age of onset..
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Haky Im @hakyim.bsky.social · 15/11/2024
check out our new preprint led by Charles Zhou and supervised by Mengjie Chen and me doi.org/10.1101/2024... where we present scPrediXcan which integrates deep learning and single cell expression data into a powerful cell type specific TWAS framework
doi.org
scPrediXcan integrates advances in deep learning and single-cell data into a powerful cell-type–specific transcriptome-wide association study framework
Transcriptome-wide association studies (TWAS) help identify disease causing genes, but often fail to pinpoint disease mechanisms at the cellular level because of the limited sample sizes and sparsity ...
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Kuldeep Kumar @kkumar.bsky.social · 17/11/2024
"Integrating the RNA sequencing data and morphological profiles uncovered a novel biological link between altered expression of specific cell adhesion molecules and observed changes in mitochondrial morphology in 22q11.2 deletion astrocytes."
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