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Dr. Quasar Saleem Padiath, MBBS, PhD

Assistant Professor, Human Genetics

Contact

4060G
R-znvy: dcnqvngu@cvgg.rqh
Primary Phone: 967-179-2758
Secondary Phone: 967-193-7871
Fax: 967-179-8575

Assistant(s):

Angelina Daily, nzq631@cvgg.rqh, 967-179-0519

Personal Statement

The major focus of the Padiath lab is to understand the molecular mechanisms underlying various neurological disorders. To achieve this, the lab uses human genetic approaches as well as research on model organisms such as mice and flies. Presently, we are studying the genetic basis of the adult onset demyelinating disorder, Autosomal Dominant Leukodystrophy (ADLD). We hope that understanding demyelinating disease mechanisms will help us identify novel pathways that regulate myelin formation and maintenance. We are also interested in understanding the genetics of circadian rhythms using the fruit fly, Drosophila melanogaster, as a model.

Research Interests:
Molecular mechanisms of neurological disorders, especially myelin formation and maintenance, using data on humans and mouse and fruit fly models. The genetics of circadian rhythms using the fruit fly, Drosophila melanogaster, as a model.

Education

1995 | Kilpauk Medical College, Madras, Dr. MGR Medical University, Madras, India | Bachelor of Medicine and Surgery (MBBS)

2001 | Indian Institute of Science, Bangalore, India | Doctor of Philosophy (PhD)

Teaching

Hugen 2040: Molecular Basis of Inherited Disease
Genetic Basis of Neurological Diseases

Leukodystrophy Study

Details of the Leukodystrophy study conducted by the Padiath lab

Selected Publications

1. Rolyan, R, Tyurina, YY, Hernandez, H, Amoscato, AA, Sparvero, LJ, Nmezi, BS, Lu, Y Estécio, MRH, Lin, K, Chen, J, He, R, Gong, R Rigatti, LH, Dupree,J, Bayir, H, Kagan,VE, Casaccia, P, Padiath,QS. Defects of lipid synthesis underlie the age dependent demyelination caused by lamin B1 over expression. J Neurosci, (2015), 35(34):12002-12017.

2. Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Gregorio ED, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS.Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression. Human mutation. 2013 May 3. PMID:23649844.

3. Padiath QS, Fu YH. Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease. Methods in cell biology. 2010;98:337-57. PMID:20816241.

4. Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptacek LJ, Fu YH. Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet. 2006;38(0):1114-23. PMID:16951681.

5. Xu Y*, Padiath QS*, Shapiro RE, Jones CR, Wu SC, Saigoh N, Ptacek LJ, Fu YH. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature. 2005;434(0):640-4. PMID:15800623. * Equal Contribution

Xu Y, Saleem Q, Shapiro RE, Jones CR, Wu SC, Saigoh N, Ptacek LJ, Fu YH. Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome. Nature. 2005;434(0):640-4. PMID:15800623.