Linnea M. Baudhuin, Ph.D., studies genomic medicine as it relates to inherited cardiovascular disorders, pharmacogenomics, gene- and genotype-based clinical management, and advanced genomic testing, including next-generation sequencing. Dr. Baudhuin is also researching the relationship between genotype and phenotype for aortopathies, cardiomyopathies, arrhythmias and dyslipidemias.
- Genetics of aortopathies. Dr. Baudhuin studies genetic aspects of aortopathies, including Marfan syndrome, and in particular how genetics is related to clinical presentation such as cardiovascular events. She is also developing guidelines with ClinGen for curation and classification of FBN1 genetic variants involved in Marfan syndrome and related disorders.
- Genetics of cardiomyopathies. Dr. Baudhuin studies genetic aspects of cardiomyopathies and is developing guidelines with ClinGen for curation and classification of genes involved in hereditary cardiomyopathies.
- Familial hypercholesterolemia (FH). Dr. Baudhuin is investigating treatment resistance to standard therapies in FH, in particular for people who may require apheresis or anti-PCSK9 therapies. Dr. Baudhuin is also working to develop a better understanding of how low-density lipoprotein receptor (LDLR) genetic variants are characterized and associated with phenotype.
- Pharmacogenomics. Dr. Baudhuin is involved in pharmacogenomics studies related to statins and anti-platelet therapies. She is a co-investigator in the Tailored Antiplatelet Therapy Following PCI (TAILOR-PCI) multisite clinical trial.
- Sudden cardiac death and sudden unexplained death. Dr. Baudhuin is studying the genetics of sudden unexplained death and sudden cardiac death, and is developing analytical methods to provide more-optimal diagnoses of these conditions.
Significance to patient care
Dr. Baudhuin's goal is to help advance personalized medicine whereby genetics can inform clinical management of patients, especially in the areas of cardiovascular genetics. She further hopes to help families who have experienced the sudden death of a family member, through genetic testing and diagnosis, thereby allowing for screening of at-risk family members and enabling earlier management and treatment.
- Member, Professional Relations Committee, Association for Molecular Pathology, 2017-present
- Board of directors, American Association for Clinical Chemistry, 2016-2018
- Associate editor, Clinical Chemistry, 2014-present
- Editor, Laboratory Genomics, NEJM Knowledge+/AACC Learning Lab, 2016-present
- Awardee, Outstanding Scientific Achievements by a Young Investigator, American Association for Clinical Chemistry, 2011