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Morava Lab



Research on Congenital Disorders of Glycosylation
Slide1

This research line focuses on protein glycosylation, and glycosylation related inborn errors of metabolism, like metabolic cutis laxa. For recent publications, see Publications 2014.

Slide2

The translational research line aims at elucidating novel genetic and metabolic disorders related to N-linked and O-linked protein glycosylation and disorders of Golgi trafficking. More specifically, our laboratories have been successfully used linkage analysis and next generation sequencing to discover novel diseases (ATP6V0A2-CDG, SRD5A3-CDG, PGM1-CDG) and evaluate the metabolic defect related to the gene defect to understand the underlying pathomechanism.

The clinical research line focuses on novel therapeutic approaches in CDG, including the role of dietary intervention and the role of organ transplantation in CDG.

Main Topics:photo 3

1. V-ATPase function and assembly in ATP6V0A2 defect and cutis laxa

2. Next generation sequencing in unsolved glycosylation defects

3. Therapeutic and dietary intervention in PGM1-CDG
     http://www.youtube.com/watch?v=1qgyVQNfJDE

4. Metabolic cutis laxa syndrome

5. Novel diagnostic methods in disorders of glycosylation

This research line is in close network with the Nijmegen Center for Congenital Disorders of Glycosylation, in collaboration with Dirk Lefeber, PhD, Ron A. Wevers, PhD, and PhD graduate students Thatjana Gardeitchik, MD, and Miski Mohamed, MD.

Research Team

Group Morava
Dr. Eva Morava-Kozicz

 

Eva Morava, MD, PhD
Clinical Biochemical Geneticist
Tulane University Medical School
Hayward Genetics Center
1430 Tulane Ave. SL#31, NO, LA, 70112
emoravakozicz@tulane.edu
Phone: (504) 988-5101

 

kscrop_2

 

 

Kyle Scott, MSc
Graduate Student
Tulane University Medical School
Hayward Genetics Center
1430 Tulane Ave. SL#31, NO, LA. 70112
kscott8@tulane.edu
Phone: (504) 988-5101

TessHS-01_LoRes

 

Tess Gadomski, BSc
Medical Student
Tulane University Medical School
Hayward Genetics Center
1430 Tulane Ave. SL#31, NO, LA, 70112
tgadomsk@tulane.edu
Phone: (504) 988-5101

2014-01-15_14-45-29_580

 


Arivudainambi
Ramalingam , PhD
Fellow in Molecular Genetics
Tulane University Medical School
Hayward Genetics Center
1430 Tulane Ave. SL#31, NO, LA, 70112
aramalin@tulane.edu
Phone: (504) 988-3934

2014-01-15_15-23-52_728

 



Jennifer Smith, MSc

Chief Analyst, Biochemical Genetics
Tulane University Medical School
1430 Tulane Ave. SL#31, NO, LA, 70112
jsmith22@tulane.edu
Phone: (504) 988-2992

ron



Ron Crandall, BSc
Masters Student in Human Genetics
Tulane University Medical School
1430 Tulane Ave. SL#31, NO, LA, 70112
rcrandal@tulane.edu
Phone: (504) 988-5101

1430 Tulane Ave, New Orleans, LA 70112 504-988-5263 medsch@tulane.edu