Molecular and Human Genetics
Baylor College of Medicine
Houston, TX US
- Clinical Director
BCM-CUHK Joint Center for Medical Genetics in Hong Kong
- BS from National University Of La Plata
- 01/1982 - La Plata, Argentina
- MD from University Of La Plata School Of Medicine
- 01/1989 - La Plata, Argentina
- Internship at Emory University Affiliate Hospitals
- 01/1990 - Atlanta, GA United States
- Residency at Emory University Affiliate Hospitals
- 01/1992 - Atlanta, GA United States
- Fellowship at Emory University Affiliate Hospitals
- 01/1995 - Atlanta, GA United States
- Medical Genetics
- General Pediatrics
- American Board of Pediatrics
- Clinical Genetics
- American Board of Medical Genetics
- Molecular bases of pediatric mitochondrial encephalomyopathies
- Stable isotope studies in MELAS syndrome to evaluate nitric oxide flux production and glucose kinetics
- EPI-746 clinical trial for Leigh syndrome
Professional StatementMy primary research interest is focused on the study of the natural history of mitochondrial disorders supported by NAMDC (North American Mitochondrial Disease Consortia), an NIH-funded registry that focuses on the longitudinal study of patients with mitochondrial disease. Furthermore, I am also involved in clinical trials in children and adults with mitochondrial disorders. One of my current areas of research includes the study of nitric oxide deficiency as the basis for stroke-like episodes in adults and children with a mitochondrial syndrome called MELAS.
As a PI on several grants that have been funded by national organizations in the United States, I have laid groundwork for the study of nitric oxide deficiency in MELAS syndrome and its restoration with the use of arginine and citrulline supplementation. A current NIH grant funds a phase 1 study that aims to determine the maximum tolerated dose and safety profile of citrulline supplementation in adults with MELAS syndrome. Moreover, I am involved in an international clinical trial for pediatric patients evaluating the efficacy of vatiquinone in mitochondrial refractory epilepsy.
Furthermore, I am interested in determining whether there is a specific metabolomics profile for the different mitochondrial disorders caused by mitochondrial and nuclear gene defects and whether this profile could be used to monitor treatment efficacy when novel therapeutic approaches are used.
- Li X, Milosavljevic A, Elsea SH, Wang CC, Scaglia F, Syngelaki A, Nicolaides KH, Poon LC "Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of Gestation." Hypertension. 2021;78:1398-1410.
- Lim J, Shayota BJ, Lay E, Elsea SH, Bekheirnia MR, Tessier MEM, Kralik SF, Rice GM, Soler-Alfonso C, Scaglia F "Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy.." J Child Neurol. 2021;36:841-852. Pubmed PMID: 33900143
- Murali CN, Soler-Alfonso C, Loomes KM, Shah AA, Monteil D, Padilla CD, Scaglia F, Ganetzky R "TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.." Mol Genet Metab. 2021;132:146-153.
- Almannai M, El-Hattab AW, Ali M, Soler-Alfonso C, Scaglia F "Clinical trials in mitochondrial disorders, an update.." Mol Genet Metab. 2020;131:1-13.
- Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F "Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.." Am J Med Genet A. 2020;182:2781-2787.
- Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, (...), Scaglia F, (...), Buchsbaum R, Thompson JLP, Hirano M "Mitochondrial diseases in North America: An analysis of the NAMDC Registry." Neurol Genet. 2020;6:e402.
- Madsen KL, Buch AE, Cohen BH, Falk MJ, Goldsberry A, (...), Scaglia F, Shieh PB, Vockley J, Zolkipli-Cunningham Z, Haller RG, Vissing J "Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial." Neurology. 2020;94:e687-e698.
- Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, (...), Scaglia F, Enns GM, Larson AA "Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)." Mol Genet Metab. 2020;130:58-64.
- Birjiniuk A, Glinton KE, Villafranco N, Boyer S, Laufman J, Mizerik E, Scott D, Elsea SH, Galambos C, Varghese NP, Scaglia F "Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension.." Am J Med Genet A. 2020;182:755-761.
- Campbell IM, Yatsenko SA, Hixson P, Reimschisel T, Thomas M, Wilson W, Dayal U, Wheless JW, Crunk A, Curry C, Parkinson N, Fishman L, Riviello JJ, Nowaczyk MJ, Zeesman S, Rosenfeld JA, Bejjani BA, Shaffer LG, Cheung SW, Lupski JR, Stankiewicz P, Scaglia F "Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.." Genet. Med. 2012 Oct;14(10):868-76. Pubmed PMID: 22722545
- Pillai NR, AlDhaheri NS, Ghosh R, Lim J, Streff H, Nayak A, Graham BH, Hanchard NA, Elsea SH, Scaglia F "Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.." Am J Med Genet A. 2019;179:2138-2143.
- American Society of Human Genetics
- Society of Inherited Metabolic Disorders
- Society for the Study of Inherited Metabolic Disorders
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