2024 Research Roundup

Conferences

2024 American Society of Human Genetics Annual Meeting: November 5th-9th in Denver, Colorado

• Lindsay Guare presented a plenary (oral) presentation titled “Integrative -omics analysis of endometriosis uncovers key pathways from a multi-ancestry study of over 800,000 women”. Lindsay also received the ASHG 2024 Trainee Research Excellence Award for this presentation!

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

• Chelsea presented a poster titled “The DNA of Distress: Uncovering Genomic Associations of Allostatic Load”.

• Lanna presented a poster titled “Evaluating effectiveness of polygenic risk scores in African ancestry breast cancer patients from Penn Medicine BioBank”.

Pathology & Laboratory Medicine Research Day 2024: May 8th at University of Pennsylvania

• Shefali Setia-Verma presented a talk titled “Groundwork for precision medicine: The role of large biobanks in discoveries and clinical implementation”.

Publications

1. Verma SS, Gudiseva HV, Chavali VRM, Salowe RJ, Bradford Y, Guare L, et al. A multi-cohort genome-wide association study in African ancestry individuals reveals risk loci for primary open-angle glaucoma. Cell. 2024 Jan 18;187(2):464-480.e10.

2. Verma SS, Caruth L, Bradford Y, Zhu Y, Salowe R, Kinzy T, et al. Development of a Comprehensive Predictive Model for Primary Open-Angle Glaucoma in Individuals of African Ancestry. Investigative Ophthalmology & Visual Science. 2024 June 17;65(7):2762–2762.

3. Humphries LA, Guare LA, Rush MA, Pollie M, Verma SS, Senapati S. GENOTYPE-PHENOTYPE ASSOCIATIONS IN ENDOMETRIOSIS AND ADENOMYOSIS: USING WHOLE-EXOME SEQUENCING TO CHARACTERIZE GENETIC BURDEN IN CANDIDATE GENES ASSOCIATED WITH ENDOMETRIOSIS. Fertility and Sterility. 2024 Oct;122(4):e82.

4. Guare LA, Das J, Caruth L, Setia-Verma S. Social Determinants of Health and Lifestyle Risk Factors Modulate Genetic Susceptibility for Women’s Health Outcomes. In: Biocomputing 2025 [Internet]. Kohala Coast, Hawaii, USA: WORLD SCIENTIFIC; 2024 [cited 2025 Aug 20]. p. 296–313. Available from: https://www.worldscientific.com/doi/10.1142/9789819807024_0022

Awards

1. Shefali received the CiPD-IBI Artificial Intelligence in Oral Health Innovation Award along with Dr. Flavia Teles, Associate Professor in the Department of Basic & Translational Sciences at Penn Dental Medicine. The award is for their project titled “Advancing Periodontal Care: Harnessing AI and Comprehensive Patient Data for the Prediction of Disease Progression.” Press release here!

2. Lindsay received the 2024 ASHG Trainee Research Excellence award for her work titled “Integrative -omics analysis of endometriosis uncovers key pathways from a multi-ancestry study of over 800,000 women”.