Luciana Haddad

Luciana Haddad

I obtained my M.D. degree in 1989 from the Federal University of Minas Gerais (UFMG), Belo Horizonte, Brazil. Before starting my graduate studies, I spent one year at the Université de Lausanne (Switzerland) where I was certified in Biochemistry (Certificat de Biochimie, 1991). Later I joined the laboratory of Dr. Sérgio Pena as a graduate student in the Program on Molecular Biology at the Department of Biochemistry and Immunology from UFMG, working on trinucleotide repeat loci with emphasis on the fragile X syndrome (FXS). We developed a molecular test to screen for FXS mutations among men, which has since then been used in various Brazilian clinical analytical and research laboratories. After receiving my Ph.D. (1997) I was awarded a Fulbright fellowship (1997-1998) to develop functional analyses on the Tuberous Sclerosis Complex 1 (TSC1) and 2 (TSC2) genes, at Harvard Medical School (Massachusetts General Hospital) under the supervision of Dr. Vijaya Ramesh. This project was further supported by a Bradley J. Herscot Tuberous Sclerosis Alliance (TSA, USA) fellowship (1999-2001). Between 2002 and 2006, I was a young investigator from the Programa de Fixação de Doutores (CNPq) at the Department of Genetics and Evolutionary Biology of the University of São Paulo, working on the Fragile Mental Retardation Protein (FMRP), under the supervision of Dr. Angela Vianna-Morgante. In 2006, I became assistant professor at the same department, where my major research interests are to understand the functional diversity of FMRP due to alternative splicing and to investigate the tuberous sclerosis molecular complex in the nervous system and kidney.


Research Profile
Dr. Haddad is a collaborator within CEPID and her research aims at understanding the normal function and variation of gene products related to inherited mental retardation and hearing impairment. Her team uses molecular and cell biology techniques to approach protein and RNA functional interactions and trafficking in neurons and other cell types. At the Human Genome Research Center she collaborates with Dr. Mingroni-Netto towards (i) establishing conditions to culture and differentiate in vitro hair cell progenitors from the inner ear organ of Corti; and (ii) searching for interactors for the protein connexin-26, expressed by the GJB2 gene, mutations of which are the most frequent cause of autosomal recessive hearing loss. She also collaborates with Dr. Vianna-Morgante on the subcellular distribution of Fragile Mental Retardation 1 (FMR1) mRNA and its encoded protein, Fragile Mental Retardation Protein (FMRP), in human ovarian granulosa cells.


Diagnostic and counseling activities


Total: 16

5 favorite publications

  1. Haddad, L.A., Mingroni-Netto, R.C., Vianna-Morgante, A.M. and Pena, S.D. (1996) A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males. Hum Genet, 97, 808-812.
  2. Haddad, L.A., Aguiar, M.J., Costa, S.S., Mingroni-Netto, R.C., Vianna-Morgante, A.M. and Pena, S.D. (1999) Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys. Am J Med Genet, 84, 198-201.
  3. Murthy, V., Haddad, L.A., Smith, N., Pinney, D., Tyszkowski, R., Brown, D. and Ramesh, V. (2000) Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney. Am J Physiol Renal Physiol, 278, F737-746.
  4. Haddad, L.A., Smith, N., Bowser, M., Niida, Y., Murthy, V., Gonzalez-Agosti, C. and Ramesh, V. (2002) The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton. J Biol Chem, 277, 44180-44186.
  5. Murthy, V., Han, S., Beauchamp, R.L., Smith, N., Haddad, L.A., Ito, N. and Ramesh, V. (2004) Pam and its ortholog highwire interact with and may negatively regulate the TSC1.TSC2 complex. J Biol Chem, 279, 1351-1358