aparajita-sriram.bsky.social
Aparajita Sriram
@aparajita-sriram.bsky.social
21 followers 66 following 2 posts
I research monogenic diabetes at the University of Exeter
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aparajita-sriram.bsky.social
Aparajita Sriram @aparajita-sriram.bsky.social · Aug 27
Our paper is now out on Diabetes!
diabetesjournals.org/diabetes/art...
Rare Variants in NEUROD1 and PDX1 Are Low-Penetrance Causes of MODY, Whereas Those in APPL1 and WFS1 Are Not Associated With MODY
An accurate genetic diagnosis of maturity-onset diabetes of the young (MODY) is critical for personalized treatment. To avoid misdiagnosis, only genes with
diabetesjournals.org
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Reposted by Aparajita Sriram
luke-sharp.bsky.social
Luke Sharp @luke-sharp.bsky.social · Jun 19
MODY is prevalent in later onset diabetes. Really proud to announce the release of a preprint of our paper assessing MODY in people diagnosed with diabetes later in life!!
#MonogenicDiabetes
medrxivpreprint.bsky.social
medRxivpreprint @medrxivpreprint.bsky.social · Jun 19
MODY is prevalent in later-onset diabetes, has potential for targeted therapy but is challenging to identify https://www.medrxiv.org/content/10.1101/2025.06.17.25329143v1
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aparajita-sriram.bsky.social
Aparajita Sriram @aparajita-sriram.bsky.social · Jun 4
Excited to share the preprint of our paper (my first paper!) looking at limited evidence MODY genes. We use rare variant burden testing and one of the largest MODY cohorts to evaluate the pathogenicity of these genes. This evidence can help inform clinical guidelines in MODY genetic testing!
medrxivpreprint.bsky.social
medRxivpreprint @medrxivpreprint.bsky.social · May 8
NEUROD1 and PDX1 are low penetrance causes of MODY while rare variants in APPL1 and WFS1 are not associated with MODY https://www.medrxiv.org/content/10.1101/2025.05.07.25327066v1
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