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Fernando Scaglia

PROJECT AFFILIATION:

PROFESSIONAL ROLES

  • Higher Ed: Science 

BIO

1. Name: Fernando Scaglia, M.D.

2. Date of Birth: December 20, 1964; citizenship: Argentina, Italy

3. Education:

a. Undergraduate Education:

Colegio Nacional La Plata, Buenos Aires, Argentina. Degree awarded: Bachelor of Arts and Sciences, 1978-82.

b. Medical Education or Graduate Education:

School of Medicine at the Universidad Nacional de La Plata, Buenos Aires, Argentina. Degree awarded: Doctor of Medicine, 1983-89.

c. Postgraduate Training:

Visiting Scientist at Dr Aftab Ahmed Ansari's laboratory at the Winship Cancer Center, Emory University School of Medicine, Department of Pathology, Atlanta, Georgia. 1990-1991.

PL1 Intern in Transitional Year Residency at Emory University School of Medicine, Atlanta, Georgia. Program Director: Kenneth Walker, M.D. 1991-92.

Pediatric Residency Program at Emory University School of Medicine, Atlanta, Georgia. Program Director: Suzanne D. Buchter, M.D. 1992-95.

Clinical and Biochemical Genetics Fellowship at Emory University School of Medicine, Atlanta, Georgia. Program Director: Louis J. Elsas II, M.D. Fellowship Research Mentor: Nicola Longo, M.D., Ph.D. 1995-98.


B. Academic Appointments:

1. Current faculty position:

Associate Professor (Tenure), Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 2006-current.

2. Previous faculty position(s):

Assistant Professor (Tenure track), Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 1998-2006 

EXPERTISE

clinical genetics
inborn errors of metabolism
natural history of mitochondrial disorders 

RECENT PUBLICATIONS

1) Brunetti-Pierri N, Scaglia F.GM(1) gangliosidosis: Review of clinical, molecular, and therapeutic aspects. Mol Genet Metab. 2008 Jun 2. [Epub ahead of print]PMID: 18524657 [PubMed - as supplied by publisher]

2) Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC.Utility of Oligonucleotide Array-Based Comparative Genomic Hybridization for Detection of Target Gene Deletions. Clin Chem. 2008 May 16. [Epub ahead of print]PMID: 18487280 [PubMed - as supplied by publisher]

3) Brunetti-Pierri N, Chan CS, Kirby J, Dishop MK, Richard G, Scaglia F, Yan AC, Levy ML.Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol. 2008 Mar;144(3):351-6. PMID: 18347291 [PubMed - indexed for MEDLINE]

4) Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ.Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. Hum Mutat. 2008 Feb;29(2):330-1.PMID: 18205204 [PubMed - indexed for MEDLINE]

5) Brunetti-Pierri N, Bhattacharjee MB, Wang ZJ, Zili Chu, Wenger DA, Potocki L, Hunter J, Scaglia F.Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis. J Child Neurol. 2008 Jan;23(1):73-8.PMID: 18184943 [PubMed - indexed for MEDLINE]

6) Moretti P, Peters SU, Del Gaudio D, Sahoo T, Hyland K, Bottiglieri T, Hopkin RJ, Peach E, Min SH, Goldman D, Roa B, Bacino CA, Scaglia F.Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency.J Autism Dev Disord. 2008 Jul;38(6):1170-7. Epub 2007 Nov 20.PMID: 18027081 [PubMed - in process]

7) Scaglia F, Wong LJ. Human mitochondrial transfer RNAs: role of pathogenic mutation in disease. Muscle Nerve. 2008 Feb;37(2):150-71. Review.PMID: 17999409 [PubMed - indexed for MEDLINE]