Publications by authors named "Bhumika Gandhi"
Sci Transl Med
September 2024
Article Synopsis
- APECED is a serious genetic autoimmune disorder linked to variants in the autoimmune regulator (AIRE) gene, with 16% of evaluated patients lacking known harmful variants, most of whom are of Puerto Rican descent.
- Researchers discovered a deep intronic variant (c.1504-818 G>A) in these patients that causes a cryptic splice site leading to a dysfunctional protein through pseudoexon inclusion.
- They developed an antisense oligonucleotide (ASO) that corrected this genetic issue, demonstrating the potential for targeted treatments in APECED patients.
Curr Cardiol Rep
November 2022
Article Synopsis
- The review focuses on cardio-oncology issues specifically for women, emphasizing the management of sex-specific cancers like breast cancer.
- It highlights significant improvements in breast cancer survivorship, while also addressing the increasing risk of cardiovascular (CV) disease among survivors, which is now the second leading cause of death in this group.
- The paper outlines the CV effects of various breast cancer treatments and advocates for a team-based, multidisciplinary approach to CV risk assessment and management throughout the entire cancer care process.
