Work Package 2 - CDG Diagnosis

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CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies-PPAIN)
Fast and accurate diagnosis of CDG is very important to provide the best care for patients.  Because of high variety of CDG symptoms and the resemblance to other diseases, diagnosis of CDG is very demanding. Thus, the most important step is to suspect a CDG! After suspicion of a CDG, the next step is to perform a blood test to analyze the glycosylation status of transferrin (serum transferrin isoelectrofocusing or IEF). This test is able to diagnose only CDG due to an N-glycosylation defect. Thus not all CDG can be detected by this assay. Some O-glycosylation defects can be diagnosed by IEF of another serum protein namely apoprotein CIII. There is an infographic about the CDG diagnostic roadmap HERE.

Working Group Leader (WGL): Maria Dulce Quelhas, Centro Genética Médica Jacinto Magalhães/Centro Hospitalar do Porto, Porto, Portugal

About Dr. Dulce Quelhas
Dulce Quelhas
Centro Genética Médica Jacinto Magalhães/
​Centro Hospitalar do Porto

Email: dulce.quelhas@chporto.min-saude.pt;mdquelhas@gmail.com
Biography:
​
Dr. Dulce Quelhas received her 6 honor degree in Pharmaceutical Sciences – Biological-Chemistry Analysis from the Faculty of Pharmacy, University of Porto in 1986. Moreover, she completed her MSc degree in Human Genetics in 1998 at the Faculty of Sciences, University of Porto. Dr Quelhas has also attended various specialist training courses under the supervision of Prof Jaeken and Prof Matthijs. After completion of her degree she was appointed Assistant at the Instituto de Genética Médica, working in the pre and post natal diagnosis of Peroxisomal Disorders. From 1997 to 2008, Dr. Quelhas developed her work in Inborn Errors of Metabolism diagnostics in the Clinical Biology Laboratory. Since 2012, she has been coordinator of the Congenital Disorders of Glycosylation diagnosis, also in charge of the biochemical post and prenatal diagnosis. In 2014/2015 Dr. Quelhas had a teaching experience in the course of Medical and Laboratorial Genetics at ICBAS (Abel Salazar Biomedical Sciences Institute).
She hopes to contribute for CDG lives by improving and optimizing its diagnostics. Dr. Quelhas has served in external quality control programs for biochemical genetics (ERNDIM) and has collaborated in student and professional training. Moreover, she has been involved in the organization of scientific meetings and conferences. She was a reviewer for the European Journal of Human Genetics in 2013, 2014 and 2015. Dr. Quelhas’s work has been distinguished with several awards. 
List of 6 publications in the field of CDG
  1. Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28.
  2. Resende C, Carvalho C, Alegria A, Oliveira D, Quelhas D, Bandeira A, Proença E. Congenital disorders of glycosylation with neonatal presentation.  BMJ Case Rep. 2014 Apr 16;2014. pii: bcr2013010037. doi: 10.1136/bcr-2013-010037
  3. Rymen D, Peanne R, Millón MB, Race V, Sturiale L, Garozzo D, Mills P, Clayton P, Asteggiano CG, Quelhas D, Cansu A, Martins E, Nassogne MC, Gonçalves-Rocha M, Topaloglu H, Jaeken J, Foulquier F, Matthijs G. MAN1B1 Deficiency: An Unexpected CDG-II PLoS Genet. 2013;9(12):e1003989. doi: 10.1371/journal.pgen.1003989. Epub 2013 Dec 12.
  4. Pérez B, Briones P, Quelhas D, Artuch R, Vega AI, Quintana E, Gort L, Ecay MJ, Matthijs G, Ugarte M, Pérez-Cerdá C. "The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations." JIMD Rep. 2011;1:117-23. doi: 10.1007/8904_2011_26. Epub 2011 Jun 22.
  5. Reynders E, Foulquier F, Leão Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W, Matthijs G. "Golgi function and dysfunction in the first COG4-deficient CDG type II patient." Hum Mol Genet. 2009 Sep 1;18(17):3244-56. doi: 10.1093/hmg/ddp262. Epub 2009 Jun 3.
  6. Pérez-Cerdá C, Quelhas D, Vega AI, Ecay J, Vilarinho L, Ugarte M."Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease." Clin Chem. 2008 Jan;54(1):93-100. Epub 2007 Nov 16.

Open position 

Inés Summer Internship CDG for Undergraduate Students:

Currently the WP2 expressed interest in hosting a student to conduct summer research focused on diagnosis for CDG. This position is available under the scope of the “1st Inés Summer Internship CDG Program for Undergraduate Students”. More information is available HERE.

Future opportunities and collaborations:

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