Is sugar the answer to diagnosing and treating disease?

Eva Morava

Tulane University School of Medicine

$250Pledged
3%Funded
$9,000Goal
0Days
This project ended on:
12 February 2014
Our research team recently discovered a new genetic disease that affects sugar metabolism and leads to severe low blood sugar levels in children. We don't yet know how frequently this disease occurs, and more important, all the ways in which it affects children. Excitingly, we have found a treatment for the disease. Using blood samples from enrolled patients, we can answer these questions and start treating these children.

Budget

Budget Overview

Awarded funding will be applied to direct laboratory costs (purchasing necessary reagents for blood analysis and blood analysis procedures - $5500), data collection costs (blood sample shipping and storage- $3000) and patient confidentiality and privacy costs (safe data management - $500). The apparatus for the sample screening is already available and not included in this budget.

Meet the Researcher

Background

The goal of the current investigation is to establish screening for congenita disorders of glycosylation in Louisiana and establish screening and dietary intervention in PGM1 deficiency, a disorder recently discovered by our research team as a cause of hypoglycemia. Eva Morava has a history of leading successful collaborations on translational research projects in the past, both with American and European research groups, demonstrated by prestigeous multicenter publications. She is higly motivated in translational research bringing clinicians and geneticists, scientists and students involved in the biochemical genetics field together. The current project on a novel metabolic disease discovered by her group and collaborators has high potential for developing new scentific and diagnostic methods, bridging clinitians to basic scientists, building scientific collaborations and training young staff and graduate students in high level research.


Press

The Advocate on Morava's research and Crowdfunding

Recent publications on congenital disorders of glycosylation
1. Wolthuis DF, van Asbeck EV, Kozicz T, Morava E. Abnormal fat distribution in PMM2-CDG. Mol Genet Metab. 2013 Nov;110(3):411-3.
2. van de Loo KF, van Dongen L, ..., Lefeber DJ, Morava E, Verhaak CM. Socio-emotional Problems in Children with CDG. JIMD Rep. 2013;11:139-48.
3. Linssen M, Mohamed M, Wevers RA, Lefeber DJ, Morava E. Thrombotic complications in patients with PMM2-CDG. Mol Genet Metab. 2013 May;109(1):107-11.
4. Verstegen R, Theodore M, van de Klerk H, Morava E. Lymphatic edema in congenital disorders of glycosylation. JIMD Rep. 2012;4:113-6.
5. Funke S, Gardeitchik T, Kouwenberg D, Mohamed M, .., Lefeber DJ, Morava E. Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A. 2013 Mar;161A:578-84.
6. Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012 Oct;72(4):550-8.
7. Morava E, Vodopiutz J, Lefeber DJ, ..., Lehle L, Wevers RA. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics. 2012 Oct;130(4):e1034-9.
8. Timal S, Hoischen A, Lehle L, ..., Wevers RA, Morava E, Veltman J, Lefeber DJ. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet. 2012 Oct 1;21(19):4151-61.
9. Mohamed M, Theodore M, ..., Kouwenberg D, Lefeber DJ, Wevers RA, Morava E. Thyroid function in PMM2-CDG: diagnostic approach and proposed management. Mol Genet Metab. 2012 Apr;105(4):681-3.
10. Kapusta L, Zucker N, Frenckel G, ..., Wevers RA, Lorber A, Morava E. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Fail Rev. 2013 Mar;18(2):187-96.
11. Binkhorst M, Wortmann SB, Funke S, Kozicz T, Wevers RA, Morava E. Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini. J Inherit Metab Dis. 2012 May;35(3):399-405.
12. Theodore M, Morava E. Congenital disorders of glycosylation: sweet news. Curr Opin Pediatr. 2011 Dec;23(6):581-7.
13. Mohamed M, Cantagrel V, Al-Gazali L, Wevers RA, Lefeber DJ, Morava E. Normal glycosylation screening does not rule out SRD5A3-CDG. Eur J Hum Genet. 2011 Oct;19(10):1019.
14. Lefeber DJ, Morava E, Jaeken J. How to find and diagnose a CDG due to defective N glycosylation. J Inherit Metab Dis. 2011 Aug;34(4):849-52.
15. Morava E, Lefeber D. CDG - an update. J Inherit Metab Dis. 2011 Aug;34(4):847-8.
16. Achouitar S, Mohamed M, ..., Elson J, Morava E. Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. J Inherit Metab Dis. 2011 Aug;34:923-7.
15. Mohamed M, Guillard M, .., Gardeitchik T, Kouwenberg D, Lim BC, Zeevaert R, Wevers RA, Lefeber DJ, Morava E. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. Biochim Biophys Acta. 2011 Jun;1812(6):691-8
Morava lab short overview
Hayward genetics at Tulane University
Scientific output by Researchgate Portugese CDG association

Project Backers

Oscar Jasklowskitamaskoziczmatthieukunzedolma

Categories

Medicine