Lisa L. Baumbach-Reardon
- Acting Director of Molecular Genetics, Miami GeneCure Diagnostic Laboratory
- Associate Research Professor
- Head, Neurogenetics Laboratory, Department of Pediatrics
- Research Associate Professor
Geneticist, University of Miami Muscular Dystrophy Association Clinics and South Florida Huntington's Disease clinic
Co-Director, University of Miami/Miami Heart Institute DNA Diagnostic Laboratory
1. Inherited basis and molecular pathophysiology of pediatric and adult neurological and neuromuscular diseases
2. Genetic basis and molecular pathophysiology of breast cancer in African-American population
3. Molecular pathophysiology of inherited and acquired forms of ventricular arrhythmias
Discovery of the X-Linked Infantile SMA gene
An international collaborative project aimed at completing the discovery of the X-linked SMA gene.
Funded by The National Muscular Dystrophy Association and Families of SMA
Team Members Lisa Baumbach (PI), Mary Ellen Ahearn (Senior Research Associate), Kemal Yariz (Graduate Student)
Collaborators include Eric Hoffman, Ph.D., Children's National Medical Center, and Alfons Meindl, M.D., Ludwig Maximilians Univ, Munchen, Germany.
Recruitment Criteria Prenatal or neonatal onset of muscular disease similar to spinal muscular atrophy (SMA, OMIM 30021), with confirmed anterior horn cell loss by muscle. Biopsy, EMG, autopsy and/or normal SMA (SMN, 5q) gene testing (no mutation detected).
Genetic basis of Inherited and Acquired Ventricular Arrhythmias
Long-QT syndrome (LQTS) is a cardiovascular disorder characterized by an abnormality in cardiac repolarization, causing syncope, seizures, and sudden death. LQTS can be inherited or acquired, the latter resulting from adverse effects of pharmacological therapy. This project investigates the molecular genetics of patients with pharmacologically-induced ventricular tachyarrhythmias, to elucidate whether unique mutations in the LQT-related genes lead to different phenotypic presentations. Study results will likely have important clinical implications for disease prevention, and therapy of patients with identified mutations in the LQT-related genes. This project is part of a larger program on the genetic basis of cardiovascular disease funded by the University of Miami and the Miami Heart Research Institute.
Funded by The American Heart Association
Team Members Lisa Baumbach, Ph.D. (PI of this project); Nanette Bishopric, M.D. (PI of main program); Todd Miller, Ph.D.
Collaborators Robert Myerburg M.D. and Paolo Rusconi M.D., Division of Cardiology, Department of Medicine;Grace Wolff M.D. and Ming-Lon Young M.D., Department of Pediatrics.
Recruitment Criteria Ventricular Arrhythmia demonstrated by EKG, with or without positive family history.
Genetic Investigations of African-American Breast Cancer and Cancer Education and Prevention in the African-American community
Breast cancer (BC) incidence and mortality rate in African-Americans (AA) exceeds that in Caucasians in women <50 years old. This may be due to increased exposure to known or unknown risk factors, decreased exposure to protective factors, and/or due to genetic factors. With the discovery of BRCA1 and BRCA2, associated with increased risk for breast cancer, technology exists to analyze the distribution and prevalence of gene alterations in at-risk groups. Our group is focused on three aspects of breast cancer in the African-American community:
1. Increased efficiency in detection of BRCA1 and BRCA2 mutations in at-risk AA patients.
2. Investigation of other possible contribu
1989 Postdoctoral Fellowship
Baylor College of Medicine
1986 Graduate - Ph.D.
University of Florida
1980 Undergraduate - B.S.
University of Florida
Training of students in human and molecular genetics, from high school students through medical students to residents and fellows.
Department of Biochemistry and Molecular Biology
Department of Neurology
Cancer Biology Graduate Program