Rebecca Meyer-Schuman
@rmschu.bsky.social
Postdoc in the Zoghbi Lab at Baylor College of Medicine | Interested in gene regulation, neurogenetics, variant interpretation, and disease mechanism | Opinions are my own
Have you ever looked at a gene in IGV or a genome browser and wondered “What are all those (ATAC-seq/H3K27ac/CTCF ChIP-seq/…) peaks doing?” 🤔 I’m thrilled to share that we developed a new technology called Swap-seq to answer that exact question. Swap-seq: www.biorxiv.org/content/10.6...
Systematic mapping of enhancers, silencers, and topological elements with prime editing deletion screens
Noncoding regulatory elements in the human genome can control gene expression through distinct mechanisms, including acting as enhancers, silencers, or topological elements. However, we lack tools to ...
biorxiv.org
I'm excited to finally publish my postdoctoral work in @ajhgnews.bsky.social! This work was motivated by two big mysteries in autism research: 1) where and what are the undiscovered genetic components of autism, and 2) why are males diagnosed with autism more frequently than females?
The American Journal of Human Genetics@ajhgnews.bsky.social · 3w ago🧬New from @rmschu.bsky.social & co! 📄A massively parallel reporter assay of MECP2cis-regulatory elements reveals genetic candidates for male-biased autism
New genetic candidates help explain why #autism affects males more often than females. H. Zoghbi, @rmschu.bsky.social explain in this interview. eurekalert.org/news-release... @ajhgnews.bsky.social @bcmhouston.bsky.social #TexasChildrens @bcmgenetics.bsky.social @eurekalert.bsky.social
Really excited to share the latest results from the Bipolar Exome (BipEx) consortium! We analyzed rare coding variation in 64,435 people with bipolar disorder and 168,101 controls across 22 countries, identifying 13 genes at exome-wide significance. 🧵 1/n www.medrxiv.org/content/10.6...
Rare coding variation implicates thirteen genes in bipolar disorder across 232,536 individuals from global populations
Bipolar disorder (BD) is highly heritable, yet the contribution of rare coding variation remains incompletely characterized. We analyzed sequencing data from 64,435 individuals with BD and 168,101 con...
medrxiv.org
1/13 The human body runs on one genome—but every cell reads it differently. How? To find out, we need to measure both gene expression and chromatin accessibility in the same nucleus. So we did, across 21 adult tissues and nearly half a million nuclei. 🧵 🔗 www.biorxiv.org/content/10.6...
Single-Nucleus Multi-Omic Atlas Maps Regulatory Architecture and Non-Coding Variant Effects across Adult Human Tissues
Diverse human cell types establish specialized functions through lineage- and context-specific regulatory programs. Interpreting non-coding genetic risk requires integrated multi-omic reference maps t...
biorxiv.org
Amazing opportunity to join a great genetics department at the University of Michigan!
Jeffrey M Kidd@jeffreymkidd.bsky.social · 4w agoExcited to share that my department has an open faculty search for an Assistant Professor! The search is broad, focused on candidates who plan to address fundamental questions in genetics and genomics. The due date is soon: Nov 13. You can apply through interfolio. apply.interfolio.com/190644
🧬🔬 Why are enhancers transcribed and how does that impact gene regulation? I’m really excited to share our new paper in @science.org showing that noncoding RNAs control the timing of gene activation in embryos. With Mike Levine #ScienceResearch @columbiamed.bsky.social A few highlights below... 🧵👇
Noncoding transcription controls the developmental dynamics of long-range gene regulation
The genomic regions regulating gene expression are often themselves transcribed into a variety of noncoding RNAs (ncRNAs). However, the regulatory roles of this noncoding transcription remain largely ...
science.org
A massive update: At least ~15 companies~ are selling scientists antibodies using faked validation data. We've documented 18,000+ manipulated images on 17,000+ products sold by leading laboratory suppliers including Thermo Fisher, Abcam, Santa Cruz Biotechnology, Millipore Sigma and Bio-Techne. 1/🧵
📢Late-Breaking Abstracts are open for #ASHG26! Share impactful discoveries, new findings & datasets, and research advancing human genetics, genomics & clinical care. Accepted abstracts may be featured in an oral session or poster. 📅 Aug. 26, 5 PM U.S. ET 🔗 https://bit.ly/3PKPMpZ #ASHG
Excited to share the results of the Codebook Project, an international effort to identify accurate DNA-binding motifs and genomic binding loci for >300 uncharacterized human transcription factors (TFs) www.nature.com/articles/s41...
An expanded codebook of human transcription factor DNA-binding specificity - Nature
Results from a panel of assays that analyse different aspects of DNA sequence specificity reveal more than 100 new motifs to aid the characterization of putative human transcription factors.
nature.com
A really cool preprint from Joanna Wysocka's lab showing that housekeeping genes use distal enhancers as dosage buffers against TF fluctuations, but only during critical cell fate transitions. Makes so much sense! www.biorxiv.org/content/10.6...
Enhancer buffering protects dosage-sensitive housekeeping genes during vulnerable developmental transitions
Housekeeping genes maintain robust expression across cell types despite dynamic transcription factor fluctuations, yet their haploinsufficiency is associated with many tissue-specific developmental di...
biorxiv.org
"Here we describe a systematic effort (‘Codebook’) to determine the sequence specificity of 332 putative and poorly characterized human TFs." www.nature.com/articles/s41...
An expanded codebook of human transcription factor DNA-binding specificity - Nature
Results from a panel of assays that analyse different aspects of DNA sequence specificity reveal more than 100 new motifs to aid the characterization of putative human transcription factors.
nature.com
📢 Structural variants disrupting PITX2 from its enhancers linked to Axenfeld-Rieger Syndrome highlight the importance of non-coding structural variants in genetic diagnoses. 🧬 🔗 Read more: www.nature.com/articles/s41...
Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome - European Journal of Human Genetics
European Journal of Human Genetics - Non-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome
nature.com
"I would like to emphasize the importance of question-driven science...young scientists might enjoy science more if they are thinking about questions rather than just collecting data" journals.biologists.com/jcs/article/...
Interview with Noboru Mizushima – President of the Japan Society for Cell Biology
Noboru Mizushima is Professor of Biochemistry and Molecular Biology at the University of Tokyo, Japan, where he runs a laboratory studying the mechanisms and physiological functions of autophagy and o...
journals.biologists.com
🪼 Your tax dollars paid a scientist to squeeze jellyfish through cheesecloth. Osamu Shimomura processed tens of thousands on an NSF grant to understand why they glow. He found a protein that glowed green under UV light. Called it "green protein." Nobody cared. For decades.
Our federal science funding agencies were designed to support science that is vetted and driven by scientists with a Congressional mandate to be for the public good. The OMB's proposed changes would replace that system with one driven by partisan cronies and special interests. 15/n
An especially disruptive change would be the elimination of publication costs. The move towards open access publishing--based on the idea that if the public pays for it, they should be able to read it--has resulted in skyrocketing up-front costs of $4000-$6000 or more per paper. 12/n
The new rules would also require that the budgeting for conferences is only allowable if participation is approved by the agency and included in the award when it is made. In other words, you have to specify the conferences you want to attend when you apply, and those must be pre-approved. 10/n
Summary of Key Changes in OMB’s Proposed Federal Financial Assistance Rule. Russell Vought is going destroy American Science. elizabethginexi.substack.com/p/summary-of...
Summary of Key Changes in OMB’s Proposed Federal Financial Assistance Rule
Russell Vought is going destroy American Science
elizabethginexi.substack.com
Every scientist should know: • antibodies (Abs) can bind the wrong target • non-validated Abs can lead to false conclusions • Abs should be validated before use YCharOS tests commercial Abs in KO cell lines ycharos.com Only Good Antibodies makes the data easy to browse onlygoodantibodies.co.uk
Only Good Antibodies — Free Antibody Characterisation Database
A free, searchable database of knockout-validated antibody characterisation data covering 155 genes and 1617 antibodies. Includes a free e-learning Academy.
onlygoodantibodies.co.uk
Reese Richardson@reeserichardson.bsky.social · 5mo agoTL;DR: We've identified more than 100 cases of apparent manipulation in Thermo Fisher Scientific's antibody verification data. @sholtodavid.bsky.social @johanduchene.bsky.social reeserichardson.blog/2026/05/28/h...
@hggadvances.bsky.social sat with @adel-aide.bsky.social, in the latest "Inside HGG Advances" to discuss her paper, “Using a modular massively parallel reporter assay to discover context-dependent regulatory activity in type 2 diabetes-linked noncoding regions.“➡️ https://bit.ly/4wVlx0o #ASHG
Inside HGGA: A Chat with Adelaide Tovar
Each month, the editors of Human Genetics and Genomics Advances interview researchers who have published work in the journal. This month, we check in with Adelaide Tovar to discuss her paper "Using a ...
ashg.org
(2) The plan is, indeed, to have an RFI to collect input. THIS IS A HUGE SHIFT IN NIH PRACTICES. FOLKS NEED TO THINK ABOUT THIS AND PREPARE TO WEIGH IN. 3/3
Applications are now open for the @geneticssociety.bsky.social Human Genetics Scholar Initiative (HGSI)! www.ashg.org/membership/a... HGSI supports trainees and early-career researchers through structured mentorship, leadership and career development programming...
Human Genetics Scholars Initiative
HGSI supports and prepares early-career individuals for professional success and creates a community of researchers committed to achieving ASHG’s vision.
ashg.org
I'm excited to finally share my postdoc work in the Zoghbi lab: "A massively parallel reporter assay of MECP2 cis-regulatory elements reveals genetic candidates for male-biased autism." www.biorxiv.org/content/10.6...
biorxiv.org
🎊🏆 Announcing the 2026 DNA Day Essay Contest winners! Students from around the world wowed us with thoughtful, science-savvy essays on gene therapies. Thank you to all who wrote an essay, mentored a student, or volunteered their time to review essays. https://bit.ly/4jJxeAM
Science advocacy in action! 🧬 ASHG Board members met w/ lawmakers on Capitol Hill to push for $51.303B NIH base budget + key policies impacting research. With proposed cuts to NIH/NSF/ARPA-H, you can add your voice from your state: complete the ASHG Action Alert 👉 https://bit.ly/4u9YrBe
On the Hill with @geneticssociety.bsky.social advocating for NIH funding. 🧬 Genetics research drives better diagnoses & treatments, trains the next generation of scientists, and keeps the U.S. competitive in biomedical innovation. Thanks to the lawmakers who engaged with us today! 🇺🇸
