Anjali Aggarwal

Anjali Aggarwal is an Assistant Professor in Pediatric Genetics & Metabolism at the University of Minnesota. Her work focuses on rare genetic disorders, particularly neurogenetics, mitochondrial diseases, and metabolic syndromes, with a strong emphasis on pediatric patient care and clinical research. She can be contacted via ORCID: 0000-0002-4683-0806 or email (aggar135@umn.edu).

Research interests include

• Exome Sequencing
• Pathogenic Variants in Genetic Disorders
• Clinical Features of Rare Syndromes
• Neurodegenerative and Mitochondrial Diseases
• Genetic Counseling
• Pediatric Epileptic Encephalopathy

Her recent grants include the Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program (LC-FAOD DMP), funded by Ultragenyx Pharmaceutical Inc. (2021–2026). Her publications highlight collaborations across institutions, with key contributions to understanding SOX18-related syndromes, mitochondrial cardiomyopathy, and novel genetic pathways like ADPRS and MED12.

Her work has been cited 13 times in Molecular Genetics and Metabolism Reports, and her 2024 case report on heart-kidney transplantation was widely shared on social media. She actively explores subfields such as

• Neurodegeneration
• Cardiomyopathy
• Congenital Malformations
• Biochemical Signatures in Genetic Disorders

through clinical and translational research.