Laurie Robak, MD, PhD
Department or Service
- Texas Medical Center
Instructor, Department of Human and Molecular Genetics
Baylor College of Medicine
|University of Rochester, Rochester, NY||PhD||Doctor of Philosophy||2009|
|University of Rochester, Rochester, NY||medical school||Doctor of Medicine||2010|
|Baylor College of Medicine||residency||Pediatrics||2015|
|Baylor College of Medicine||research fellow||Clinical Genetics (Lysosomal Storage Disorders).||2016|
I strive to provide high-quality, compassionate, patient-oriented care to the whole individual with a wide variety of genetic conditions, with the goal of not only understanding the impact of the genetic disorder on the individual and their families, but to optimize function so they may reach their full potential. My specific clinical interests include neurologic disorders, with a particular interest in lysosomal storage disorders and movement disorders such as Parkinson’s disease. I am also the geneticist for the Primary Ciliary Dyskinesia and Rare Lung Disorder clinics at Texas Children’s Hospital.
Robak LA*, Jansen IE*, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J; International Parkinson’s Disease Genomics Consortium (IPDGC), Heutink P, Shulman JM; IPDGC Consortium members.; International Parkinson’s Disease Genomics Consortium (IPDGC). Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease. Brain 2017 Nov 13. Dec 1;140(12):3191-3203. *co-first authors.
Chao YH*, Robak LA*, Xia F, Koenig MK, Adesina A, Bacino CA, Scaglia F, Bellen HJ, Wangler MF. Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet 2016 May 1;25(9):1846-56. *co-first authors.
Robak LA, Venkatesh K, Lee H, Raiker SJ, Duan Y, Lee-Osbourne J, Hofer T, Mage RG, Rader C, Giger RJ. Molecular basis of the interactions of the Nogo-66 receptor and its homolog NgR2 with myelin-associated glycoprotein: development of NgROMNI-Fc, a novel antagonist of CNS myelin inhibition. J Neurosci 2009 May 6;29(18):5768-83.
Farlow JL, Robak LA, Hetrick K, Bowling K, Boerwinkle E, Coban-Akdemir ZH, Gambin T, Gibbs RA, Gu S, Jain P, Jankovic J, Jhangiani S, Kaw K, Lai D, Lin H, Ling H, Liu Y, Lupski JR, Muzny D, Porter P, Pugh E, White J, Doheny K, Myers RM, Shulman JM, Foroud T. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol 2016 Jan;73(1):68-75.
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