Happy to report that the results of germline testing as part of the National Cancer Institute/Children’s Oncology Group MATCH precision oncology trial was published. pubmed.ncbi.nlm.nih.gov/41166674/

Welcome to #ASHG25! As our President Sarah Tishkoff just noted, next year for the first time the ASHG exec cmte will be all women. Glad to have anyone and everyone participating in this society now and in the future.

First Plenary Abstract Session of #ASHG25 starting with Srikar Gopinath from Yale describing their study characterizing >1M variants in the 5' UTR regions to assess their functional effects on gene translation and develop a prediction algorithm to evaluate non-coding UTR variation.

Congratulations to Andy Rivera @poseypod.bsky.social lab @bcmhouston.bsky.social grad student for putting together a standing room only session at #ASHG25

@nickywhiffin.bsky.social An article I thought you would appreciate. www.bozemandailychronicle.com/news/renu-sy...

“The cause defended at Dayton is a continuing one that has existed throughout man’s brief history and will continue as long as man is here,” Scopes wrote in Center of the Storm, his 1967 memoir. “It is the cause of freedom, for which man must do what he can.”

Funny reversal of technology. I have received the print version of @nejm.org for >30 years. I get the hard copy at my house. I wanted to look at videos associated with article in June 26 issue I was reading today on Pompe disease. I can read the print version - but the digital issue is not online!!

Atul Butte died yesterday. The world lost a giant. A big bear of a man. With a huge smile. With love for everyone. With energy that could power a room. I loved everything about Atul. I loved how he was always happy. I loved how excited he was about science and helping people.

In a modest bit of good news, NIH has released new NOFOs for all the NRSAs (and also Pioneer and New Innovator awards) grants.nih.gov/funding/nih-...

Durbin to Bhattacharya: "I can't understand it. I disagree w/ this admin on so many things. But this is the one that really gets to me personally. To think this nation would walk away from medical research. For God's sake...cancer, your budget requests a 38% cut to the National Cancer Institute"

That’s awesome! ….but, it’s also ~30 R01s The truth is that the US stood alone in large scale science funding— and reaped a lot of benefit for being -the- place where new things get discovered Realigning is going to be tough on everyone

The fallacy posed by the MAHAers is that if you eat healthy you are not going to be afflicted by diseases such as cancer. This is not just statistically stupid but it’s also cruel. Imagine telling the parent of a young child with cancer that you should have eaten more veggies. 1/

At the luncheon for our Baylor College of Medicine MD/PhD MSTP graduation reception. So proud of this group and what they have accomplished!! Heading off during challenging times!

📢📢Published today in @jem.org 📢📢 New human inborn error of immunity. We describe the first reported human with a monogenic disorder caused by the disruption of ZBTB7B, which encodes the transcription factor ThPOK. rupress.org/jem/article/... @ubcmedicine.bsky.social @bcchresearch.bsky.social

Stefan Pfister - KiTZ Heidelberg Genomics of pediatric tumors. What makes childhood brain tumors different (recent publication) and new data. Pediatric hallmarks of cancer. Don’t have environmental exposure but have hijacking of normal development (maturation block) and simple genomes. #MSKDevOnc

Richard Phillips - UPenn - epigenetic dysregulation of midline brain tumors. Different epigenetic regulator changes with age. Where K3.1 K27M is much younger than K3.3G34R/V tumors. IDH mutant is even older adults. Vulnerable periods of plasticity may differ. #MSKDevOnc #MSKkids

Piyush Joshi - German Cancer Research Center. Plasticity of Medulloblastoma Group 3/4. See overlapping molecular programs across subtypes. Single nucleus multi-omic experiments. Transcription factor network. #MSKDevOnc #MSKkids

David Teachey - CHOP on pediatric ALL treatment. Most of initial treatments developed in 1950’s. Hit a threshold with standard CTX in COG trials that ended in the 90’s, Focus on T-ALL - one good shot for initial treatment. Relapse not very successful. Need to improve frontline #MSKDevOnc #MSKkids

Jean Soulier - France Genomic Instability in MDS/Fanconi Anemia begins Day 2 of the Steel Symposium. Now up to 24 genes. See both MDS and AML with subsequent in adults get solid tumors H&N SCC. Aldehydes one cause of inter strand crosslinks. #MSKDevOnc #MSKkids

Paul Northcott - St. Jude - reviewing the history of the Medulloblastoma molecular anlaysis. 4 groups go back to many papers in 2006 to 2011. 2016 WHO classification separate out these diseases. Origins of MB for Group 3 & 4. #MSKDevOnc #MSKkids

Pallavi Mohapatra - Huangfu and Ziv labs. Pancreatic Neuroendocrine tumors. Highly heterogeneous depending on the type of Islet cells and the hormone expressed (10-40% of tumors). Remainder are non-expressing and diagnosed very extensive. Lack of targeted therapeutic options. #MSKDevOnc #MSKkids

Taryn Treger - UK - Wilms Tumor genetic predisposition. Compared WGS to 71 children with Wilms tumor with some known anomalies and similar number that were “negative”. Look at what is missed by standard analysis. #MSKDevOnc #MSKkids

Elena Vasileva - Amatruda Lab at Children’s Hospital LA. Working on molecular genetics of Ewing sarcoma. No previously available mouse genetic model. EWS-Fli is very toxic in mouse cells. Using Zebrafish as a mosaic model instead. Inducible model (Elife, 2022). #MSKDevOnc #MSKkids

Asher Steinberg - Kentsis lab Long read sequencing of sarcomas. Osteosarcoma high number of rearrangements but few point mutations. Doing long-read RNA sequencing to capture different isoforms by looking at splice junctions to get better patterns than short reads. #MSKDevOnc #MSKkids

Lauren Banks - MSKCC - breaking HLA restriction and using TCR to attack intracellular antigen. Desmoplastic small cell round cell tumor. EWSR1-WT1 defines this tumor type. Conserved exon sequence of fusion RNA. So have a specific and unique junction peptide fragment. #MSKDevOnc #MSKkids

Takeshi Fujino - MSKCC Pharmacology. Taking on Development of CAR-T cells targeting U5 snRNP200 for AML and b-lymphoid malignancies. Anti-U5 snRNP200 antibodies are being used. U5 snRNP200 is an RNA helicase part of the spliceosome. #MSKDevOnc #MSKkids

Isabella Kong - Roth Lab - Weill Cornell Medicine. EBV-associated lymphoma. EBV latency states in malignancies. Latency 2 and 3 more likely to be killed by EBV specific killing. Latency 1 tumors don’t express antigens. Get partial conversion from latency 1 tumors by decitabine. #MSKDevOnc #MSKkids

Cath Bollard - National Children’s Hospital - talking history of immunotherapy. Cancer Grand Challenge Team to increase potency T-cells for childhood cancer (solid tumors). 6 work packages and 3 clinical trials planned #MSKDevOnc #MSKkids

Karina Leung - MSKCC Pre-targeted 225Ac alpha emitters radioImmunotherapy using self-assembling Dis-assembling bispecific antibodies. Focus on neuroblastoma. Alpha particles +2 high LET inducing double strand breaks #MSKDevOnc #MSKkids

Oriana Miltiadous - MSKCC next up studying microbiome in pediatric cancer. Prior evidence that response to immune therapy impacted by microbiome species. How does antibiotics impact this? #MSKDevOnc #MSKkids

Urmila Sehrawat on eIF4A target for MYC-driven neuroblastoma. eIF4A is overexpressed. Looking at natural products and synthetic analogs to find optimal inhibitors. #MSKDevOnc #MSKkids

First up is Marielle Filbin from DFCI, Boston Children’s on glioma development, pediatric high grade glioma and ependymoma. Reviewing the amazing specificity of H3.3 K27M or H3.1K27M mutations in midline tumors. #MSKDevOnc

I’m in NYC at the 2025 Robert Steel Symposium in Developmental Oncology. #MSKDevOnc and posting is allowed. mskcc.cloud-cme.com/Assets/mskcc...

Garden friends. Have grown orchids in this corner of my living room for years. Now two different plants are losing leaves. Often starts like this. Any ideas?🌱🌱

1/n I don’t understand the new Dept HHS assertion that childhood vaccines weren’t tested in placebo-controlled trials. That’s simply not true. I did a quick (non-exhaustive) PubMed search and they came up pretty quickly. For example here’s MMR

I don’t normally criticise papers publicly and have hesitated before posting this 🧵. However, I worry about the potential implications of this paper and others that may make similar mistakes. The paper: www.nature.com/articles/s41... 1/7

i'm just a senior postdoc, standing in front of a career that i have worked really hard for, asking higher education in the united states to not completely implode in front of my eyes before i even get a chance to say the words 'my lab studies'

Filbin - profiling of ependymoma (pediatric brain tumor). Well known ZFTA-RELA and other fusions in supratentorial ependymoma (ST-EPN). Now in bioarchive but doesn’t want posted??? Really don’t get the posting ideas at the meeting this year #AACR2025

Check out this thread from @seplon.bsky.social and then go see the pediatric cancer series here brnw.ch/21wSeVa #AACR25

Elaine Mardis - Nationwide Children’s. Updated results from Molecular Characterization Initiative. CAP/CLIA - germline and tumor exome, RNA panel, Illumina Methylation Arrays. Turnaround time 14 days. Everything is electronic and AWS cloud computing. Signed out and sent electronically. #AACR

John Maris - Neuroblastoma - showing that 17q abnormality is associated with TRIM38 over expression and neuroblastoma has the highest expression of other tumor types. #AACR25

Steve Lipkin - Weill Cornell Medicine - on cancer interception. Last speaker in childhood cancer predisposition syndrome although gives the caveat that he is an internist and geneticist who sees adults. #AACR2025

David Malkin from SickKids in Toronto talking about surveillance. Relaying the history of cancer predisposition genes which starts in 1985 with RB1. Still finding new genes - a group of Wilms Tumor genes identified more recently. #AACR2025

I’ve not been very active but I’m at #AACR2025 and thought I would post some cancer genetics relevant talks from Chicago.

Benjamin Franklin (@DrFranklinPA): “Regretfully, I lost my son to smallpox before a vaccine existed. If you reject vaccines today, despite all the evidence, you insult progress itself. I have no patience for such foolishness!”

Delighted to share my PhD thesis work is now published in @nature.com! This study tracks the journey of blood stem cells in aging mice, examining how the clonal dynmics of blood production change over time. A short 🧵1/n #aging #stemcells #clonalhematopoiesis www.nature.com/articles/s41...

Well said!

New York Times article now up on Federal Register stuff. www.nytimes.com/2025/02/21/s... 1/n

RFK Jr. thinks that a clinical trial should be done for the entire childhood vaccine schedule. Here’s why that will never happen. 1. You can’t do a randomized trial of something that we already know is safe and effective. There would have to be a placebo group that didn’t get vaxxed. Unethical.

Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29 Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social www.sciencedirect.com/science/arti...