SUMMARY
Alejandro Ferrer, Ph.D., is a translational researcher whose main interest is to expand the knowledge of rare and undiagnosed diseases, with a special focus on hematologic phenotypes. He provides research support to Mayo Clinic's clinics for short telomere syndromes and clonal hematopoiesis of indeterminate potential.
Dr. Ferrer's research advances the implementation and development of omics technologies to better diagnose patients with rare hematologic diseases. He is also the director of the telomere functional laboratory within the Division of Hematology. The telomere functional laboratory, in collaboration with the Center for Individualized Medicine, complements omics testing with experimental approaches.
Focus areas
- Telomere biology disorder. Dr. Ferrer's main interest is the diagnosis and treatment of patients with suspicion of telomere biology disorders, also known as short telomere syndromes, a group of diseases for which approximately 60% of cases have no molecular explanation. Dr. Ferrer's work includes developing new methods to assess telomere function, expanding the understanding of the cause and development of telomere biology disorders, and characterizing variants of uncertain significance that are functionally related to the disorders.
- Clonal hematopoiesis of indeterminate potential. Dr. Ferrer and colleagues are interested in understanding the clinical significance of acquired somatic variants that evolve into clonal hematopoiesis of indeterminate potential. They're also focused on the variants' connections to clinical management and predictive value.
- Inherited and acquired bone marrow failure. Dr. Ferrer and colleagues are interested in other causes of unexplained blood disorders with genetic origins, both germline and somatic.
- Hereditary predisposition syndromes. Dr. Ferrer is also focused on identifying and characterizing genetic causes of predisposition to hematologic malignancies.
Significance to patient care
Dr. Ferrer's research is patient centered with a strong bench-to-bedside approach.
His work affects clinical care in two main ways. First, it provides additional information about and testing of variants of uncertain significance found in patients with unexplained hematologic diseases. Second, Dr. Ferrer is developing new approaches to identify patients with these variants and understand the mechanisms that cause disease when a molecular explanation has not yet been uncovered.
The goal of Dr. Ferrer's research is to develop effective treatment options and clinical management guidelines to improve the outcomes and lives of patients with rare hematologic diseases.
Professional highlights
- Review editor, Cancer Genetics specialty section, Frontiers in Genetics, 2021-present
- Ad hoc reviewer, Genetics and Molecular Biology, 2020-present
- Ad hoc reviewer, Journal of Visualized Experiments, 2019-present
- Ad hoc reviewer, PLOS Genetics, 2019-present
- Ad hoc reviewer, Cold Spring Harbor Molecular Case Studies, 2018-present
- Young Investigator Award, Society of Hematologic Oncology, 2021
- European Society of Hematology International Scholarship Fund, 2020
- Early Career Investigator Scholarship Award, Brandt Family Scholar Fund, 2018
- Best Young Investigator Presentation Award, European Association for the Study of the Liver, 2012