Aparajita Sriram
@aparajita-sriram.bsky.social
I research monogenic diabetes at the University of Exeter
Reposted by Aparajita Sriram
Excited to announce the acceptance and publication of our paper titled “Population prevalence, penetrants, and mortality for genetically confirmed MODY” in JCEM: doi.org/10.1210/clin...
#MODY #monogenicdiabetes
#MODY #monogenicdiabetes
Population prevalence, penetrance, and mortality for genetically confirmed MODY
AbstractContext. Diagnosing Maturity-Onset Diabetes of the Young (MODY) is clinically important for treatment and prognosis. However, phenotype-based studi
doi.org
November 3, 2025 at 11:02 AM
Excited to announce the acceptance and publication of our paper titled “Population prevalence, penetrants, and mortality for genetically confirmed MODY” in JCEM: doi.org/10.1210/clin...
#MODY #monogenicdiabetes
#MODY #monogenicdiabetes
Our paper is now out on Diabetes!
diabetesjournals.org/diabetes/art...
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
August 27, 2025 at 1:42 PM
Our paper is now out on Diabetes!
diabetesjournals.org/diabetes/art...
diabetesjournals.org/diabetes/art...
Reposted by Aparajita Sriram
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
#MonogenicDiabetes
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
June 19, 2025 at 12:05 PM
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
#MonogenicDiabetes
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!
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
June 4, 2025 at 12:36 PM
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!