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Dr. Quasar Saleem Padiath, MBBS, PhD

Associate Professor, Human Genetics

Associate Professor, Department of Neurobiology

Member, Center for Neuroscience (CNUP)

Contact

3115 Public Health
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
HUGEN2034: Biochemical and Molecular Genetics of Complex Diseases

HUGEN2032: Genetic Techniques

MSNBIO 2112: Neurobiology of Disease

MED 5115 Genetics - Human Genetics

Leukodystrophy Study

Details of the Leukodystrophy study conducted by the Padiath lab

Selected Publications

1.Curiel J*, Rodríguez Bey G*, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J*, Padiath Q*, Vanderver A*. * (Equal Contribution) TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. Human Molecular Genetics. (2017) 26(22):4506-4518.

2.Padiath QS. Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies. Nucleus, 7(6):547-553 (2016).

3. 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. Neuroscience. (2015), 35(34):12002-12017.

4. 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.

5. 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.

6. 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. Nature Genetics.(2006);38(0):1114-23. PMID:16951681.

7. 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.