2025 Research Roundup

Written By Ananya Rajagopalan

Conferences

2025 Pacific Symposium on Biocomputing (January 4-8th, 2025 in Big Island, Hawaii)

  • Lindsay gave an oral presentation titled “Social Determinants of Health and Lifestyle Risk Factors Modulate Genetic Susceptibility for Women's Health Outcomes”, and was part of a team conducting a workshop called “Command Line to PipeLine: Cross-Biobank Analyses with Nextflow”.

Wellcome Women's Health: Genes, Data and Advancing Approaches (January 27-29th in Cambridge, England)

  • Ananya presented a poster titled “Evaluating he effectiveness of a PCOS mediator-effect polygenic risk score in predicting Type 2 diabetes in women“. Ananya received the Best Poster Prize for this presentation!

  • Aude presented a poster titled “Exploring the genetic architecture of Unexplained Pregnancy Loss and other Adverse Pregnancy Outcomes”.

  • Lindsay presented a poster titled “Genome-wide scan for structural variants associated with endometriosis in 56,230 genetically diverse participants from the All of Us Research Program”.

  • Shefali gave a talk titled “Advanced polygenic and polyomic risk scoring enhances endometriosis prediction by modeling complex genetic architecture“.

2025 Society for Reproductive Investigation (March 25-29th in Charlotte, North Carolina)

  • Stephanie presented a poster titled “Understanding Pain in Women with Polycystic Ovary Syndrome: Health Risks and Treatment Effectiveness”.

2025 American Association for Cancer Research (April 25-30th in Chicago, Illinois)

  • Lanna presented a poster titled “Evaluating the effectiveness of machine learning models using polygenic risk scores and clinical factors for breast cancer risk stratification”.

2025 Association for Research in Vision and Ophthalmology Annual Meeting (May 4-8th in Salt Lake City, Utah)

  • Aude presented a poster titled “Exploring the role of primary open-angle glaucoma endophenotypes in genetic risk: a genome-wide mediation analysis in individuals of African ancestry”.

  • Shefali presented a poster titled “Enhancing Prediction of Primary Open-Angle Glaucoma Through Endophenotype-Informed Polygenic Risk Scores in African Ancestry Individuals”.

19th World Congress on Endometriosis (May 21-24th in Sydney, Australia)

  • Lindsay presented two oral presentations, titled “Expanding the Genetic Landscape of Endometriosis: Integrating Multi-omics with a Genome-wide Meta-analysis of Over 900,000 Genetically Diverse Women” and “Genome-Wide Scan for Structural Variants Associated with Endometriosis in 56,230 Genetically Diverse Participants from the All of Us Research Program”. Lindsay won the David Healy Award for best Oral Presentation by an Early Career Scientist the first oral presentation!

  • Ananya gave an oral presentation titled “Exome-Wide Association Study Characterises Genetic Burden Associated with Endometriosis Across Diverse Populations” and presented a poster titled “Evaluation of a Rule-Based Phenotyping Algorithm for Endometriosis“.

33rd International Society for Computational Biology (ICSB) Meeting (July 20-24th in Liverpool, UK)

  • Tess gave a talk titled “When Genes and Germs Collide: Understanding how Microbiome-Associated Variants Contribute to Complex Diseases”.

2025 American Society of Human Genetics Annual Meeting (October 14-18th in Boston, Massachusetts)

  • Tess gave an oral presentation titled “Lifecourse Genetic Risk of Cardiovascular Disease in Women with Reproductive Health Conditions”.

  • Ananya presented a poster titled “Elucidating the shared genetic architecture of hypercholesterolemia and endometriosis through a mediation framework”, which was selected for a Reviewer’s Choice Abstract Award!

  • Aude presented a poster titled “Decoding the Genetic Architecture of Pregnancy Loss and Adverse Outcomes: Insights into Rare, Common, and Structural Variants from Large-Scale Biobanks”.

  • JD presented a poster titled “Population Specific Diverse Evolutionary Signatures Shaping Endometriosis Disease Risk”.

  • Lindsay presented two posters: titled “Uncovering Rare Genetic Drivers of Endometriosis Through Multi-Ancestry ExWAS” and “Beyond PRS: Geno2Vec learns rich SNP embeddings to predict endometriosis”.

  • Lanna presented a poster titled “Training Breast Cancer Genetic Association Models using biobank scale data for effective risk prediction”.

  • Stephanie presented a poster titled “From Phenome to Casuality: A Multilayered Analysis of Age at Natural Menopause and its Health-Related Consequences”.

2025 Androgen Excess and PCOS (AE-PCOS) Society Meeting (October 23-25th in San Antonio, Texas)

  • Tess presented a poster (lightning talk) titled “Time-to-Event Genome-Wide Association Studies for Patients with PCOS and Cardiovascular Disease“. Tess received the Verity Poster Award for this presentation!

2025 Menopause Society Meeting (October 21-25 in Orlando, Florida)

  • Stephanie presented a poster titled “Prevalence and Risk Factors of Metabolic Syndrome in Women with Natural Menopause”.

Featured Publications

  1. Caruth L, Sore R, Ehsan S, McCarthy AM, Setia-Verma S. Abstract 7449: Evaluating the effectiveness of machine learning models using polygenic risk scores and clinical factors for breast cancer risk stratification. Cancer Research. 2025 Apr 21;85(8_Supplement_1):7449–7449.

  2. Furquim CP, Caruth L, Chandrasekaran G, Cucchiara A, Kallan MJ, Martin L, et al. Developing Predictive Models for Periodontitis Progression Using Artificial Intelligence: A Longitudinal Cohort Study. J Clinic Periodontology. 2025 Oct;52(10):1478–90.

  3. Rajagopalan A, Nguyen TA, Guare LA, Garao Rico AL, Venkatesh R, Caruth L, et al. DRIVE-KG: Enhancing variant-phenotype association discovery in understudied complex diseases using heterogeneous knowledge graphs [Internet]. Genetic and Genomic Medicine; 2025 [cited 2025 Oct 28]. Available from: http://medrxiv.org/lookup/doi/10.1101/2025.08.19.25333942

  4. Ikuzwe Sindikubwabo AB, Caruth L, Zhu Y, Bradford Y, Salowe R, Ritchie MD, et al. Endophenotype Guided Genome-Wide Association Study to Enhance Genetic Risk Prediction of Primary Open-Angle Glaucoma in African Ancestry Populations [Internet]. Genetic and Genomic Medicine; 2025 [cited 2025 Oct 28]. Available from: http://medrxiv.org/lookup/doi/10.1101/2025.09.29.25336758

  5. Wayne N, Singamneni VS, Venkatesh R, Cherlin T, Verma SS, Guerraty MA. Genetic Insights Into Coronary Microvascular Disease. Microcirculation. 2025 Jan;32(1):e12896.

  6. Venkatesh R, Cherlin T, Wayne N, Kumar R, Guare L, Singamneni V, et al. Genome-Wide Association Study of Coronary Microvascular Disease assessed by cardiac perfusion Positron Emission Tomography converges on NF-кB pathway [Internet]. Cardiovascular Medicine; 2025 [cited 2025 Oct 28]. Available from: http://medrxiv.org/lookup/doi/10.1101/2025.03.20.25324357

  7. Lammi V, Nakanishi T, Jones SE, Andrews SJ, Karjalainen J, Cortés B, et al. Genome-wide association study of long COVID. Nat Genet. 2025 June;57(6):1402–17.

  8. Venkatesh R, Cherlin T, BioBank PM, Ritchie MD, Guerraty MA, Verma SS. Integrating Imaging-Derived Clinical Endotypes with Plasma Proteomics and External Polygenic Risk Scores Enhances Coronary Microvascular Disease Risk Prediction† [Internet]. Cardiovascular Medicine; 2025 [cited 2025 Oct 28]. Available from: http://medrxiv.org/lookup/doi/10.1101/2025.08.18.25333844

  9. Zhu Y, Ikuzwe Sindikubwabo AB, Bradford Y, Salowe R, Caruth L, Pham K, et al. Multimodal Prediction of Primary Open-Angle Glaucoma Using Polygenic Risk Scores and Clinical Features in a High-Risk African Ancestry Cohort [Internet]. Ophthalmology; 2025 [cited 2025 Oct 28]. Available from: http://medrxiv.org/lookup/doi/10.1101/2025.09.27.25336797

  10. Hinkle SN, Okeh CC, Ulloa-Pérez E, Mani A, Higginbotham EJ, Thomas R, et al. Perceptions of Institutional Engagement and Inclusion by Sexual Orientation and Gender Identity. JAMA Netw Open. 2025 June 4;8(6):e2513772.

  11. Smit RAJ, Wade KH, Hui Q, Arias JD, Yin X, Christiansen MR, et al. Polygenic prediction of body mass index and obesity through the life course and across ancestries. Nat Med. 2025 Sept;31(9):3151–68.

Awards

  1. Ananya received the Best Poster Prize for her poster on “Evaluating he effectiveness of a PCOS mediator-effect polygenic risk score in predicting Type 2 diabetes in women“ at the Wellcome Women’s Health conference.

  2. Lindsay was presented with the David Healy Award for best Oral Presentation by an Early Career Scientist at the 16th World Congress on Endometriosis for her work on “Expanding the Genetic Landscape of Endometriosis: Integrating Multi-omics with a Genome-wide Meta-analysis of Over 900,000 Genetically Diverse Women”.

  3. Tess received the Verity Award for her poster on “Time-to-Event Genome-Wide Association Studies for Patients with PCOS and Cardiovascular Disease“ at AE-PCOS.

Ananya Rajagopalan
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2024 Research Roundup