Nadav Ahituv
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nadavahituv.bsky.social
Nadav Ahituv
@nadavahituv.bsky.social
Professor, Department of Bioengineering and Therapeutic Sciences, Director, Institute for Human Genetics, UCSF
Reposted by Nadav Ahituv
Stoked to share our latest work entitled: “Large-scale discovery of neural enhancers for cis-regulation therapies”

shorturl.at/H3Qww

This is an enormous team effort that I had the honour of spearheading with Nick Page and Florence Chardon.

Bluetorial below.
November 5, 2025 at 3:09 PM
Reposted by Nadav Ahituv
Been working on a really strange retron bacterial immune system, here's the preprint: www.biorxiv.org/content/10.1...
Type VI retrons are unlike any other. Phage infection triggers reverse transcription of a DNA fragment that activates translation of a toxin to kill the infected cell.
October 23, 2025 at 6:49 PM
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
September 17, 2025 at 3:13 PM
Reposted by Nadav Ahituv
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
July 11, 2025 at 5:41 PM
Reposted by Nadav Ahituv
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
August 16, 2025 at 3:03 AM
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
August 23, 2025 at 1:37 PM
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
August 6, 2025 at 2:15 AM
Reposted by Nadav Ahituv
📣 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
July 31, 2025 at 4:12 PM
Reposted by Nadav Ahituv
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
July 30, 2025 at 1:41 PM
Reposted by Nadav Ahituv
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
July 26, 2025 at 5:14 PM
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
July 21, 2025 at 1:18 AM
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
July 1, 2025 at 3:13 PM
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
June 15, 2025 at 6:29 PM
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
May 24, 2025 at 7:08 PM
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
May 9, 2025 at 3:50 AM
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
April 22, 2025 at 8:51 PM
Reposted by Nadav Ahituv
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
April 22, 2025 at 6:52 PM
Reposted by Nadav Ahituv
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
March 26, 2025 at 2:02 PM
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
March 28, 2025 at 7:30 PM
Looking forward to this symopium in honor of Ray White. There is still time to register.
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...
March 25, 2025 at 1:59 AM
Reposted by Nadav Ahituv
#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
March 20, 2025 at 3:07 PM
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
March 5, 2025 at 12:38 AM
Looking forward to this meeting!
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
February 21, 2025 at 9:58 PM
Tumors need a lot of nutrients to grow. By engineering and implanting fat cells to outcompete cancers for nutrients we can suppress them. Novel cancer therapy called Adipose Manipulation Transplantation (AMT). AMAZING work led by and dedicated to Hai Nguyen.
www.nature.com/articles/s41...
Implantation of engineered adipocytes suppresses tumor progression in cancer models - Nature Biotechnology
Adipose manipulation transplantation can reduce tumor growth and proliferation in vitro and in mouse models.
www.nature.com
February 4, 2025 at 3:49 PM