Towfique Raj
@trajnp.bsky.social
Associate Professor, Icahn School of Medicine at Mount Sinai | @Gates_Cambridge Alum | Previously: @Cambridge_Uni | @broadinstitute, @harvardmed |@DrexelUniv.
Pinned
Towfique Raj
@trajnp.bsky.social
· Nov 24
2025 Alzheimer’s Disease Conference GRC
The 2025 Gordon Research Conference on Alzheimer’s Disease will be held in Ventura, California. Apply today to reserve your spot.
www.grc.org
The inaugural #Alzheimers GordonConf speaker lineup is live! A few slots are still available, so encourage your fellows and students to submit abstracts for short talks. Don’t miss out—register today!
www.grc.org/alzheimers-d...
www.grc.org/alzheimers-d...
Reposted by Towfique Raj
Zoom your career 🤓🧠🧬https://us02web.zoom.us/meeting/register/tIp9vIuwSF2LJydcdpDIxQ#/registration
Welcome! You are invited to join a meeting: The Future of AI in Research “Is ChatGPT Smarter than Me?”. After registering, you will receive a confirmation email about joining the meeting.
Welcome! You are invited to join a meeting: The Future of AI in Research “Is ChatGPT Smarter than Me?”. After registering, you will receive a confirmation email about joining the meeting.
us02web.zoom.us
April 10, 2025 at 3:43 PM
Zoom your career 🤓🧠🧬https://us02web.zoom.us/meeting/register/tIp9vIuwSF2LJydcdpDIxQ#/registration
Reposted by Towfique Raj
Day 2 of the CCAD Reunion Conference did not disappoint! Great conversations, poster sessions, and a fantastic group of scientists. #CCAD2025 #AlzheimersResearch #NewVisionResearch
@malutansey.bsky.social @panosroussos.bsky.social @bobalhill.bsky.social @hoppzor.bsky.social @bucklr01.bsky.social
@malutansey.bsky.social @panosroussos.bsky.social @bobalhill.bsky.social @hoppzor.bsky.social @bucklr01.bsky.social
April 8, 2025 at 6:58 PM
Day 2 of the CCAD Reunion Conference did not disappoint! Great conversations, poster sessions, and a fantastic group of scientists. #CCAD2025 #AlzheimersResearch #NewVisionResearch
@malutansey.bsky.social @panosroussos.bsky.social @bobalhill.bsky.social @hoppzor.bsky.social @bucklr01.bsky.social
@malutansey.bsky.social @panosroussos.bsky.social @bobalhill.bsky.social @hoppzor.bsky.social @bucklr01.bsky.social
Fantastic talks at #CCAD2025 Reunion Conference! @sinaibrain.bsky.social @jmcastell.bsky.social, Panos Roussos and Kuan-Lin Huang
April 9, 2025 at 6:12 PM
Fantastic talks at #CCAD2025 Reunion Conference! @sinaibrain.bsky.social @jmcastell.bsky.social, Panos Roussos and Kuan-Lin Huang
Reposted by Towfique Raj
The best way to judge the impact of the field’s investment is to ask “where are they now?” These New Vision Research #CCADalumni are crushing it 🤓💪🏼🧠🧬🦠🌡️🩺
April 9, 2025 at 1:29 AM
The best way to judge the impact of the field’s investment is to ask “where are they now?” These New Vision Research #CCADalumni are crushing it 🤓💪🏼🧠🧬🦠🌡️🩺
Raj Lab @ #ADPD2025: Tatsuhiko Naito on mosaic chromosomal alterations (mCA) in #Alzhiemer’s (ID 1090, Fri 17:50, Hall F2) & Mikaela Rosen on scRNA-seq of PBMCs & T cells in #Parkinson’s (ID 1462, on demand).
April 4, 2025 at 3:42 PM
Raj Lab @ #ADPD2025: Tatsuhiko Naito on mosaic chromosomal alterations (mCA) in #Alzhiemer’s (ID 1090, Fri 17:50, Hall F2) & Mikaela Rosen on scRNA-seq of PBMCs & T cells in #Parkinson’s (ID 1462, on demand).
Nice to see this finally published!
Congratulations @jack-humphrey.bsky.social
www.nature.com/articles/s41...
(Collaborative work with Panos Roussos and his team! )
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing
Congratulations @jack-humphrey.bsky.social
www.nature.com/articles/s41...
(Collaborative work with Panos Roussos and his team! )
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing - Nature Genetics
This isoform-centric microglia genomic atlas includes 35,879 novel human microglia isoforms identified by long-read RNA sequencing. A multi-ancestry quantitative trait locus meta-analysis of known and...
www.nature.com
March 4, 2025 at 1:31 AM
Nice to see this finally published!
Congratulations @jack-humphrey.bsky.social
www.nature.com/articles/s41...
(Collaborative work with Panos Roussos and his team! )
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing
Congratulations @jack-humphrey.bsky.social
www.nature.com/articles/s41...
(Collaborative work with Panos Roussos and his team! )
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing
Reposted by Towfique Raj
LOOKING FORWARD to inaugural #Alzheimer’s #GordonConf co-chaired by @trajnp.bsky.social & @bcmhouston.bsky.social’s Olivier Lichtarge. Vice Chairs @karchlab.bsky.social & Jennifer Yokoyama. Delve into #AI/#ML, #omics, stat. genetics, fungen, sysbio, #neuroimaging & MORE 👉 www.grc.org/alzheimers-d...
January 26, 2025 at 3:05 PM
LOOKING FORWARD to inaugural #Alzheimer’s #GordonConf co-chaired by @trajnp.bsky.social & @bcmhouston.bsky.social’s Olivier Lichtarge. Vice Chairs @karchlab.bsky.social & Jennifer Yokoyama. Delve into #AI/#ML, #omics, stat. genetics, fungen, sysbio, #neuroimaging & MORE 👉 www.grc.org/alzheimers-d...
Reposted by Towfique Raj
I think the field needs to reconsider the widespread concept that microglia are The most important factor controlling synaptic pruning.🧠🧪
We offered our Perspective on whether they are hunters or gatherers of synaptic debris here
www.nature.com/articles/s41...
We offered our Perspective on whether they are hunters or gatherers of synaptic debris here
www.nature.com/articles/s41...
January 8, 2025 at 8:58 AM
I think the field needs to reconsider the widespread concept that microglia are The most important factor controlling synaptic pruning.🧠🧪
We offered our Perspective on whether they are hunters or gatherers of synaptic debris here
www.nature.com/articles/s41...
We offered our Perspective on whether they are hunters or gatherers of synaptic debris here
www.nature.com/articles/s41...
Happy Holidays from the lab! 🎄 We celebrated with a 'Squid Game'-themed team-building outing – full of fun and bonding! Here's to a fantastic new year ahead! #TeamBuilding #HappyHolidays
December 20, 2024 at 4:39 PM
Happy Holidays from the lab! 🎄 We celebrated with a 'Squid Game'-themed team-building outing – full of fun and bonding! Here's to a fantastic new year ahead! #TeamBuilding #HappyHolidays
Reposted by Towfique Raj
What do GWAS and rare variant burden tests discover, and why?
Do these studies find the most IMPORTANT genes? If not, how DO they rank genes?
Here we present a surprising result: these studies actually test for SPECIFICITY! A 🧵on what this means... (🧪🧬)
www.biorxiv.org/content/10.1...
Do these studies find the most IMPORTANT genes? If not, how DO they rank genes?
Here we present a surprising result: these studies actually test for SPECIFICITY! A 🧵on what this means... (🧪🧬)
www.biorxiv.org/content/10.1...
Specificity, length, and luck: How genes are prioritized by rare and common variant association studies
Standard genome-wide association studies (GWAS) and rare variant burden tests are essential tools for identifying trait-relevant genes. Although these methods are conceptually similar, we show by anal...
www.biorxiv.org
December 17, 2024 at 7:05 AM
What do GWAS and rare variant burden tests discover, and why?
Do these studies find the most IMPORTANT genes? If not, how DO they rank genes?
Here we present a surprising result: these studies actually test for SPECIFICITY! A 🧵on what this means... (🧪🧬)
www.biorxiv.org/content/10.1...
Do these studies find the most IMPORTANT genes? If not, how DO they rank genes?
Here we present a surprising result: these studies actually test for SPECIFICITY! A 🧵on what this means... (🧪🧬)
www.biorxiv.org/content/10.1...
Reposted by Towfique Raj
Thanks to FOX24News for having me on to spotlight #CADASIL. I hope this gives insight into this disease and highlights why we believe targeting blood vessels is key to developing effective treatments #VCID #EndDementia.
More info below 👇
www.elahilab.com/
More info below 👇
www.elahilab.com/
December 10, 2024 at 6:24 PM
Thanks to FOX24News for having me on to spotlight #CADASIL. I hope this gives insight into this disease and highlights why we believe targeting blood vessels is key to developing effective treatments #VCID #EndDementia.
More info below 👇
www.elahilab.com/
More info below 👇
www.elahilab.com/
Reposted by Towfique Raj
3 reviews on planning, execution, & validation of transcriptomic experiments in neuroscience published in @natureportfolio.bsky.social #NatureNeuroscience.
A MUST READ if you're doing transcriptomics.
3 reviews, an amazing editorial, a beautiful cover – this is the issue of the year!
(mini thread)
A MUST READ if you're doing transcriptomics.
3 reviews, an amazing editorial, a beautiful cover – this is the issue of the year!
(mini thread)
December 11, 2024 at 5:04 PM
3 reviews on planning, execution, & validation of transcriptomic experiments in neuroscience published in @natureportfolio.bsky.social #NatureNeuroscience.
A MUST READ if you're doing transcriptomics.
3 reviews, an amazing editorial, a beautiful cover – this is the issue of the year!
(mini thread)
A MUST READ if you're doing transcriptomics.
3 reviews, an amazing editorial, a beautiful cover – this is the issue of the year!
(mini thread)
Reposted by Towfique Raj
Excited to share our first foray into (noncoding) rare variant association testing: a probabilistic model that learns functional annotation importance and finds associations missed by existing methods. Anjali did a fantastic job with model assessment and scaling! www.medrxiv.org/content/10.1...
Leveraging functional annotations to map rare variants associated with Alzheimer's disease with gruyere
The increasing availability of whole-genome sequencing (WGS) has begun to elucidate the contribution of rare variants (RVs), both coding and non-coding, to complex disease. Multiple RV association tes...
www.medrxiv.org
December 9, 2024 at 5:03 PM
Excited to share our first foray into (noncoding) rare variant association testing: a probabilistic model that learns functional annotation importance and finds associations missed by existing methods. Anjali did a fantastic job with model assessment and scaling! www.medrxiv.org/content/10.1...
Reposted by Towfique Raj
It’s a big day for @genesandhealth.bsky.social @samcbhodgson.bsky.social @moneeza-ks.bsky.social Genes & Health, with @ Sam Hodgson, Moneeza Kalhan Siddiqui and I, as we publish our paper rdcu.be/d1vj0 on the genetic basis of #type2diabetes & #gestationaldiabetes (#T2D and #GDM) in south Asians. A🧵
Genetic basis of early onset and progression of type 2 diabetes in South Asians
Nature Medicine - In a cohort of 50,556 South Asian individuals, partitioned polygenic scores helped identify genetic susceptibility to insulin deficiency and unfavorable fat distribution as key...
rdcu.be
November 26, 2024 at 5:52 PM
It’s a big day for @genesandhealth.bsky.social @samcbhodgson.bsky.social @moneeza-ks.bsky.social Genes & Health, with @ Sam Hodgson, Moneeza Kalhan Siddiqui and I, as we publish our paper rdcu.be/d1vj0 on the genetic basis of #type2diabetes & #gestationaldiabetes (#T2D and #GDM) in south Asians. A🧵
I’m still trying to figure this thing out. Do we have a “starter pack” for a list of people to follow for #neurodegeneration #neurogenomics #Alzheimer #Parkinson #als #ftd
November 26, 2024 at 3:36 PM
I’m still trying to figure this thing out. Do we have a “starter pack” for a list of people to follow for #neurodegeneration #neurogenomics #Alzheimer #Parkinson #als #ftd
Reposted by Towfique Raj
The inaugural #Alzheimers GordonConf speaker lineup is live! A few slots are still available, so encourage your fellows and students to submit abstracts for short talks. Don’t miss out—register today!
www.grc.org/alzheimers-d...
www.grc.org/alzheimers-d...
2025 Alzheimer’s Disease Conference GRC
The 2025 Gordon Research Conference on Alzheimer’s Disease will be held in Ventura, California. Apply today to reserve your spot.
www.grc.org
November 24, 2024 at 1:23 PM
The inaugural #Alzheimers GordonConf speaker lineup is live! A few slots are still available, so encourage your fellows and students to submit abstracts for short talks. Don’t miss out—register today!
www.grc.org/alzheimers-d...
www.grc.org/alzheimers-d...
Reposted by Towfique Raj
The journal Nature asked 6 biomedical scientists to briefly comment on what should be a U.S. priority going forward.
Here's mine.
www.nature.com/articles/d41...
Here's mine.
www.nature.com/articles/d41...
November 25, 2024 at 9:52 PM
The journal Nature asked 6 biomedical scientists to briefly comment on what should be a U.S. priority going forward.
Here's mine.
www.nature.com/articles/d41...
Here's mine.
www.nature.com/articles/d41...
Reposted by Towfique Raj
Excited to share our latest preprint on scE2G – a new model to link enhancers to target genes using single-cell data – with state-of-the-art performance across multiple perturbation benchmarks.
biorxiv.org/cgi/content/...
Read more below!
1/12
biorxiv.org/cgi/content/...
Read more below!
1/12
Mapping enhancer-gene regulatory interactions from single-cell data
Mapping enhancers and their target genes in specific cell types is crucial for understanding gene regulation and human disease genetics. However, accurately predicting enhancer-gene regulatory interac...
biorxiv.org
November 25, 2024 at 8:26 AM
Excited to share our latest preprint on scE2G – a new model to link enhancers to target genes using single-cell data – with state-of-the-art performance across multiple perturbation benchmarks.
biorxiv.org/cgi/content/...
Read more below!
1/12
biorxiv.org/cgi/content/...
Read more below!
1/12
Reposted by Towfique Raj
I wrote about the National Institutes of Health and the various serious and unserious proposals for NIH reform that have been floating around. It is important to understand how this agency actually functions and point criticism at the right problems. A short 🧵:
Distinguishing real from invented problems with the NIH
How does the NIH work and where does it work well?
open.substack.com
November 24, 2024 at 3:33 PM
I wrote about the National Institutes of Health and the various serious and unserious proposals for NIH reform that have been floating around. It is important to understand how this agency actually functions and point criticism at the right problems. A short 🧵:
The inaugural #Alzheimers GordonConf speaker lineup is live! A few slots are still available, so encourage your fellows and students to submit abstracts for short talks. Don’t miss out—register today!
www.grc.org/alzheimers-d...
www.grc.org/alzheimers-d...
2025 Alzheimer’s Disease Conference GRC
The 2025 Gordon Research Conference on Alzheimer’s Disease will be held in Ventura, California. Apply today to reserve your spot.
www.grc.org
November 24, 2024 at 1:23 PM
The inaugural #Alzheimers GordonConf speaker lineup is live! A few slots are still available, so encourage your fellows and students to submit abstracts for short talks. Don’t miss out—register today!
www.grc.org/alzheimers-d...
www.grc.org/alzheimers-d...