Lisa Baumbach

Associate Research Professor

Ph.D. (1986) University of Florida, Gainsville

Inherited neurological and
neuromuscular diseases

Room 6021
Mailman Center for Child Development
1601 N.W. 12th Avenue

Genetic basis of Inherited and Acquired Ventricular Arrhythmias Abstract 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.

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 contributory genetic factors specific to AA breast cancer.
3. Dissemination of information on cancer to the underserved communities of South Florida

Representative Publications

1. Carvalho MA, Marsillac SM, Karchin R, Manoukian S, Grist S, Swaby RF, Urmenyi TP, Rondinelli E, Silva R, Gayol L, Baumbach L, et al.  Determination of cancer risk associated with germline BRCA1 missense variants by functional analysis. Manuscript accepted with revision, Cancer Research, November, 2006: publication date – February, 2007.

2. Jaime Guevara-Aguirre, Arlan L Rosenbloom,  Marco Guevara Aguirre, Kemal Yariz,  Lisa Baumbach, Jeanette Saavedra, Jonathan Shuster. Heterozygosity for the E180 splice mutation causing growth hormone receptor deficiency (GHRD/Laron syndrome) in Ecuador is associated with reduced adult stature and no IGF-I or IGFBP3 evidence of GH insensitivity. Submitted to Growth Hormone and IGF Research, November, 2006; Accepted, Growth Hormone and IGF Research, January, 2007.

3. Dressman, D., Ahearn, ME., Yariz, KO., Basterrecha H., Martinez, F., Palau, F., Barmada, MM., Clark, RD., Meindl, A, Wirth, B., Hoffman, EP., Baumbach, LL.  X-linked spinal muscular atrophy (XL-SMA): clinical definition and molecular mapping. Manuscript accepted with Revision, Genetics in Medicine, September, 2006; publication date - Jan 15, 2007

4. Richard T. Moxley III, M.D., Stephen Ashwal M.D., Shree Pandya, M.S., P.T., Anne Connolly, M.D., Julaine Florence, M.H.S., P.T., Katherine Mathews, M.D., Lisa Baumbach, Ph.D. Craig McDonald, M.D., Michael Sussman, M.D., Christine Wade, Ph..D., P.T. (2005). Practice Parameter: Corticosteroid Treatment Of Duchenne Muscular Dystrophy, (Report of the American Academy of Neurology and the Child Neurology Society). Neurology,  64:13-20.
   Papapetropoulos S, Lopez-Alberola R,  Baumbach L,  Russell A, Gonzalez M, Singer C. (2005). A case of juvenile HD with evidence of maternal inheritance and large trinucleotide repeat. Mov Disord. Oct; 20(10):1380-3.