Sharon Plon
@seplon.bsky.social
Geneticist, researcher and educator
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/
Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial - PubMed
Coordinated germline and tumor panel testing was feasible and revealed P/LP CPG variants in 6.3% of the Pediatric MATCH cohort. Tumor variant fraction, germline association of CPG with tumor type, and adult-oriented guidelines were not predictive of germline status, emphasizing the need for systemat …
pubmed.ncbi.nlm.nih.gov
November 11, 2025 at 9:11 PM
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/
Reposted by Sharon Plon
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.
October 14, 2025 at 8:25 PM
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.
Reposted by Sharon Plon
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.
October 14, 2025 at 9:27 PM
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
October 15, 2025 at 12:52 PM
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...
‘We finally have a name’: At long last, Manhattan family gets an answer to daughter's rare genetic condition
As with so many calls previously about 9-year-old Delilah, Kelli Stanley braced for more uncertainty. But this time was different. This time, they finally had a name.
www.bozemandailychronicle.com
July 16, 2025 at 11:20 PM
@nickywhiffin.bsky.social An article I thought you would appreciate. www.bozemandailychronicle.com/news/renu-sy...
Reposted by Sharon Plon
“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.”
Today I'm remembering what Lela Scopes told me about her famous brother for my Paducah Sun story going on 46 years ago.
100 years after the Scopes monkey trial, education is in the dock again
Today I’m remembering what Lela Scopes told me about her famous brother for my Paducah Sun story going on 46 years ago.She said before John Thomas Scopes left to teach science and coach football at Rhea County High School in Dayton, Tenn., in 1924, he explained: “I’m going there because it’s a small...
bit.ly
July 13, 2025 at 5:01 AM
“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!!
June 25, 2025 at 1:01 AM
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!!
Reposted by Sharon Plon
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.
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.
June 14, 2025 at 6:35 PM
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.
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.
Reposted by Sharon Plon
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-...
NIH Guide for Grants and Contracts | Grants & Funding
grants.nih.gov
June 13, 2025 at 7:51 PM
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-...
Reposted by Sharon Plon
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"
June 10, 2025 at 3:02 PM
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"
Reposted by Sharon Plon
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 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
June 5, 2025 at 11:37 AM
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 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
Reposted by Sharon Plon
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/
June 5, 2025 at 6:01 PM
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!
May 27, 2025 at 5:47 PM
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!
Reposted by Sharon Plon
📢📢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
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
May 20, 2025 at 4:43 PM
📢📢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
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
May 20, 2025 at 4:18 PM
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
May 20, 2025 at 3:53 PM
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
May 20, 2025 at 3:42 PM
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
May 20, 2025 at 2:59 PM
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
May 20, 2025 at 12:54 PM
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
May 19, 2025 at 8:21 PM
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
May 19, 2025 at 8:06 PM
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
May 19, 2025 at 7:50 PM
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
May 19, 2025 at 6:31 PM
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
May 19, 2025 at 4:37 PM
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
May 19, 2025 at 4:18 PM
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