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Nadav Ahituv @nadavahituv.bsky.social · 21d

Most neurodevelopmental disorders are caused by having 1 functional gene copy. Using SCN2A, we show that upregulating the functional copy rescues neuronal phenotypes. Amazing work with @neurobender.bsky.social led by Serena Tamura, Andrew Nelson, Perry Spratt & others.
www.nature.com/articles/s41...

CRISPR activation for SCN2A-related neurodevelopmental disorders | Nature

www.nature.com

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Reposted by Nadav Ahituv

Institute for Human Genetics at UCSF @ihgatucsf.bsky.social · Jul 11

We are excited to inform you about the annual UCSF IHG Genotech Symposium, taking place on 9/22. The goal of this symposium is to foster collaboration and cross-fertilization between industry and academia in genetics and genomics. Hope to see you there!
genotech.ucsf.edu/home

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Reposted by Nadav Ahituv

Elphege Nora Lab at UCSF @elphegenoralab.bsky.social · Aug 16

New preprint with @gfudenberg.bsky.social

We find the rate of cohesin loop extrusion in cells is set by NIPBL dosage and tunes many aspects of chromosome folding.

This provides a molecular basis for NIPBL haploinsufficiency in humans. 🧵👇

www.biorxiv.org/content/10.1...

NIPBL dosage shapes genome folding by tuning the rate of cohesin loop extrusion

Cohesin loop extrusion is a major driver of chromosome folding, but how its dynamics are controlled to shape the genome remains elusive. Here we disentangle the contributions of the cohesin cofactors ...

www.biorxiv.org

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Nadav Ahituv @nadavahituv.bsky.social · Aug 23

Neomers are short 16bp sequences missing in our genome. Cancer causes mutations, leading to their appearance, making them a great diagnostic tool from cell-free DNA. Amazing work by Ilias Georgakopoulos-Soares, Ofer Yizhar-Barnea, Ioannis Mouratidis, Martin Hemberg...
www.nature.com/articles/s43...

Leveraging sequences missing from the human genome to diagnose cancer - Communications Medicine

Georgakopoulos-Soares, Yizhar-Barnea, Mouratidis et al. identify neomers, short (16 base pair) DNA sequences that are absent in the genomes of healthy individuals but appear in tumors due to mutations...

www.nature.com

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Nadav Ahituv @nadavahituv.bsky.social · Aug 6

Our protocol on growing adipocytes or adipose organoids for Adipose Manipulation Transplantation (AMT), by the amazing Kelly An and Yusuke Ito, is out in Bio-Protocol. Hoping it will be helpful in the adoption of this therapeutic technology for various conditions.

bio-protocol.org/en/bpdetail?...

bio-protocol.org

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Reposted by Nadav Ahituv

Nicky Whiffin @nickywhiffin.bsky.social · Jul 31

📣 We are recruiting! Please share!!

Are you a bioinformatician / computational scientist who wants to apply your skills to understanding regulatory biology and improving rare disease diagnosis and treatment? 🧠 💻 🧬 🩺

We have two roles available 👇

🧵 1/4

Image of an old building in Oxford with the heading 'postdoc opportunities' and the text 'computational approaches to improve rare disease diagnosis and treatment' and 'Big Data Institute, University of Oxford'

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Reposted by Nadav Ahituv

Eileen Furlong @eileen-furlong.bsky.social · Jul 30

To all post-docs: The Genome Biology dept ‪@embl.org
has an Independent faculty position. Fantastic place to set up your lab –great package: core funding, fantastic Ph.D. students, cutting edge core facilities & great colleagues. Closing date Sept 19th
embl.wd103.myworkdayjobs.com/en-US/EMBL/j...

Group Leader - Genome Biology Unit

Are you ready to lead groundbreaking research in Genome Biology? Join us at EMBL! We are seeking a motivated scientist to lead an independent research group addressing exciting and original biological...

embl.wd103.myworkdayjobs.com

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Reposted by Nadav Ahituv

David Gokhman @david-gokhman.bsky.social · Jul 26

Given two genomes, can you tell who’s taller or more prone to a disease? How confident can you be? A fresh take on phenotypic inference, now out:
rdcu.be/exW4f
See thread🧵👇:

Predicting the direction of phenotypic difference

Nature Communications - Here authors reveal a method to predict key information on phenotypes - their direction. This is achievable even for phenotypes with incomplete genotype-to-phenotype...

rdcu.be

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Nadav Ahituv @nadavahituv.bsky.social · Jul 21

Join us for our @ihgatucsf.bsky.social Genotech Symposium on September 22nd 9-6pm at our Mission Bay campus! We have a great lineup of speakers and registration is free.

genotech.ucsf.edu

Institute for Human Genetics Genotech Symposium

genotech.ucsf.edu

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Nadav Ahituv @nadavahituv.bsky.social · Jul 20

תנחומי!

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Nadav Ahituv @nadavahituv.bsky.social · Jul 1

Lentivirus massively parallel reporter assays integrate & enrich for specific sequences in the genome. We utilize this to test their epigenetic modifications & open chromatin alongside their regulatory activity. Amazing work by Zicong Zhang, Fumitaka Inoue & others.
www.biorxiv.org/content/10.1...

Simultaneous epigenomic profiling and regulatory activity measurement using e2MPRA

Cis-regulatory elements (CREs) have a major effect on phenotypes including disease. They are identified in a genome-wide manner by analyzing the binding of transcription factors (TFs), various co-fact...

www.biorxiv.org

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Nadav Ahituv @nadavahituv.bsky.social · Jun 15

Capture C identifies promoter interacting sequences. MPRA tests sequences for regulatory activity. Here, we combined them both to test sequences with their target promoter. Amazing work by @colinearnould.bsky.social, Pia Keukeleire, Martin Kircher and many others.
www.biorxiv.org/content/10.1...

Capture-C MPRA: A high-throughput method to simultaneously characterize promoter interactions and regulatory activity

Cis regulatory elements (CREs) interact with their target promoters over long genomic distances and can be identified using chromatin conformation capture (3C) assays. Their regulatory activity can be...

www.biorxiv.org

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Nadav Ahituv @nadavahituv.bsky.social · May 24

Comparison between a neuronal massively parallel reporter assay for 50,000 sequences and 20,000 variants with mouse enhancer assays provide complimentary information. Great work by Michael Kosicki, Dianne Laboy Cintrón, Len Pennacchio, Martin Kircher lab & many others.
www.nature.com/articles/s41...

Massively parallel reporter assays and mouse transgenic assays provide correlated and complementary information about neuronal enhancer activity - Nature Communications

MPRAs and in vivo transgenic mouse assays are two potentially complementary ways to assay the impact of noncoding variants. Here, authors find a strong and specific correlation between the assays in n...

www.nature.com

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Nadav Ahituv @nadavahituv.bsky.social · May 9

Massively parallel jumping assay (MPJA) enables to test the jumping potential of thousands of transposons. Analysis of >160,000 Alu haplotypes identified transposition-asssociated domains. Amazing work by Navneet Matharu, Jingjing Zhao, Martin Kircher and many others.
www.nature.com/articles/s41...

Massively parallel jumping assay decodes Alu retrotransposition activity - Nature Communications

Here, the authors develop a high-throughput assay to measure the jumping potential of thousands of transposons in parallel.

www.nature.com

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Nadav Ahituv @nadavahituv.bsky.social · Apr 22

MPRAbase (mprabase.ucsf.edu) , a customized database for massively parallel reporter assays (MPRAs) to easily find and download MPRA data. Amazing work by Jingjing Zhao, Fotis Baltoumas, Georgios Pavlopoulos, @vagar.bsky.social, ilias Georgakopoulos-Soares & others.

genome.cshlp.org/content/earl...

MPRAbase a Massively Parallel Reporter Assay database

An international, peer-reviewed genome sciences journal featuring outstanding original research that offers novel insights into the biology of all organisms

genome.cshlp.org

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Reposted by Nadav Ahituv

Vikram Agarwal @vagar.bsky.social · Apr 22

One of the toughest parts of the field of massively parallel reporter assays to measure >~thousands of elements is that there are hundreds of pubs using them, but no central repo to easily locate the results....until now! Great collab w/ Jingjing Zhao, Ilias G-S, and @nadavahituv.bsky.social!!

MPRAbase a Massively Parallel Reporter Assay database

An international, peer-reviewed genome sciences journal featuring outstanding original research that offers novel insights into the biology of all organisms

genome.cshlp.org

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Nadav Ahituv @nadavahituv.bsky.social · Apr 9

Was a lot of fun doing this podcast! Thanks @thermofishersci.bsky.social team!

speaking-of-mol-bio.simplecast.com/episodes/fro...

From bats to cancer – the power of gene regulation | Speaking of Mol Bio

Dr. Nadav Ahituv, Professor and Director of the Institute for Human Genetics at UCSF, takes us on a journey through groundbreaking work in gene regulation, disease genetics, and the evolution of bats....

speaking-of-mol-bio.simplecast.com

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Reposted by Nadav Ahituv

Emily Goldberg @dremilygoldberg.bsky.social · Mar 26

I could not be more excited to have our lab's first story online where we report our discovery that HDACs ~reverse~ their activity to ADD acyl groups to lysine! We found this for our favorite ketone body, BHB, but this pathway controls other lysine modifications too!🧵

www.nature.com/articles/s41...

Reversible histone deacetylase activity catalyzes lysine acylation - Nature Chemical Biology

Tsusaka et al. discover that histone deacetylases, which are well known to remove protein modifications, such as lysine acetylation and β-hydroxybutyrylation, can also reverse their chemical activity ...

www.nature.com

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Nadav Ahituv @nadavahituv.bsky.social · Mar 28

Nice story about our adipose manipulation transplantation (AMT) cancer therapy written by Edward Winstead at NCI.
www.cancer.gov/news-events/...

Genetically Modified Fat Cells Starve Tumors in Mice

White fat cells genetically engineered to aggressively consume glucose and other nutrients can shrink tumors in mice, a new study has found.

www.cancer.gov

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Nadav Ahituv @nadavahituv.bsky.social · Mar 25

Looking forward to this symopium in honor of Ray White. There is still time to register.

Institute for Human Genetics at UCSF @ihgatucsf.bsky.social · Mar 18

Join us for our symposium in honor of Ray White! We have an amazing lineup of speakers. Please register before Friday March 21, 2025.
humangenetics.ucsf.edu/ray-white-me...

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Reposted by Nadav Ahituv

Nature Reviews Cancer @natrevcancer.nature.com · Mar 20

#ResearchHighlight 🚨
@nadavahituv.bsky.social &Co developed a new therapeutic approach, adipose manipulation transplantation (AMT), in which engineered adipocytes are used to outcompete tumours for lipids and glucose to suppress cancer progression.
👀 ⬇️

Fighting cancer with fat

bit.ly

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Nadav Ahituv @nadavahituv.bsky.social · Mar 5

Looking for a new director for our Genetic Counseling Program at UCSF. Job ad below and feel free to contact me directly with any questions.
sjobs.brassring.com/TGnewUI/Sear...

Job Search Welcome | University of California San Francisco

Search for Internet job openings.

sjobs.brassring.com

Nadav Ahituv @nadavahituv.bsky.social · Feb 21

Looking forward to this meeting!

Wellcome Connecting Science Learning and Training @eventswcs.bsky.social · Feb 17

Join leading experts working in #RareDisease research at our #GRD25 conference.

📅 Dates: 9-11 April 2025
💭 Share insights in person

Explore the latest #genomics advances accelerating improvements in clinical care for rare disorders, globally.

⏰Secure your place by 11 March: bit.ly/3BpAe44

Genomics of Rare Disease (hybrid conference)
Dates: 9-11 April 2025
Location: Hinxton Hall Conference Centre, Wellcome Genome Campus, UK and online

In-person registration deadline: 11 March 2025
Virtual registration deadline: 1 April 2025

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Nadav Ahituv @nadavahituv.bsky.social · Feb 9

Sri, if there is anyone at UCSF that could be helpful let me know. Happy to help in any way.

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Nadav Ahituv @nadavahituv.bsky.social · Feb 4

Research Briefing on this article
www.nature.com/articles/s41...

Starving tumors with fat - Nature Biotechnology

Adipocytes can be isolated, genetically manipulated, and then reimplanted. In this study, these properties were leveraged to engineer adipocytes that can outcompete tumors for essential metabolic reso...

www.nature.com

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