CURRICULUM VITAE GRAFAKOU OLGA

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1 1 PERSONAL DATA Name: Olga Surname: Grafakou Date of birth: 29/03/1970 Address: P. Koroneou st. 59, Rethymnon, Crete, Greece Tel: Fax: Family status: married, mother of three boys. EDUCATION- TRAINING Oct Jul 1993 : Medical Student, University of Patras. (award for qualifing second in the class) Mar 1995-May 1998: Pediatric resident at Rethymnon General Hospital, Crete. May 1998-Aug 2000: Pediatric resident of the 2nd Pediatric Department, University of Athens, 'P & A Kyriakou' Children's Hospital. In October 2000, after examination, award of the title of specialty in pediatrics. Sep 2001-Sept 2002, training in metabolic diseases, as a visiting clinician, in Nijmegen Center for Mitochondrial and Metabolic Diseases, under Professor Jan Smeitink. In November 2006, after following a two year interdisciplinary program by the University of Crete, (School of Philosophical and Social Studies, Medical School, School of Biology and School of Sociology), acquisition of Master s degree in Bioethics In June 2012, brush up training in metabolic diseases, for four weeks, in Nijmegen Center for Mitochondrial and Metabolic Diseases, under Professor Jan Smeitink EXPERIENCE I have been practicing medicine since March 1993 at the following posts: 1. As a primary care physician at Militsa, Mesinia, Greece (Sep Mar 1995). 2. As a resident in Pediatrics at Rethymnon General Hospital for three years (Mar Mar 1997, then extended until may 1998). 3. As a resident in Pediatrics at the 2nd Pediatric Department, University of Athens, 'P & A Kyriakou' Chidren's Hospital (May 1998-August 2000). 4. As a visiting clinician in Nijmegen, The Netherlands, (sept 2001-Sept 2002) where I followed the department activities regarding outpatient clinics and admitted patients, clinical rounds, lectures, procedures (eg skin biopsies), and pursued my own lab project. 5. As an associate of Child neurogenetic unit at the University hospital of Heraklion, Crete, under Thanasis Evangeliou, a reference center for all suspected metabolic patients of Crete 6. As a pediatric consultant in the General Hospital of Chania Crete, for one year, and at

2 2 the general Hospital of Rethymnon for two years, where my job was mainly general pediatrics. I continued to follow cretan metabolic patients and kept my affiliation with the neurogenetic unit in Heraklion until last year when Dr Evangeliou left Crete. 7. As a private pediatrician for 7 months (Aug March 2008) while also working as a pediatrician for the Foundation of Social Security, [IKA]. 8. From March 2008 until now, I have been working as a pediatric consultant at Spili Primary Health Center, Rethymnon. During the same time, I have been scientific collaborator of the Pediatric Department of Venizelion Tertiary Hospital, Heraklion Crete, running a weekly outpatient clinic for diagnosed and suspected metabolic patients and providing metabolic consultation. Attending metabolic courses, congresses and meetings as well as brush up training in Nijmegen provide the necessary knowledge and skills for keeping up with this activity LANGUAGES English (fluent), French (fluent), Dutch (intermediate level). ACTIVITIES IN THE FIELD OF METABOLIC- NEUROGENETIC MEDICINE I am a member of the SSIEM and HSSIEM. I have also participated in the following activities ANNOUNCEMENTS IN THE METABOLIC- NEUROGENETIC FIELD 1. Case of Angelman syndrome in a 4 year old boy. Paraskakis E., Voutoufianakis S., Pouliasi A., Grafakou O., Evangeliou A., Spilioti M., Sbirakis S. Pediatric Clinic of Rethymnon General Hospital, Pediatric Clinic of Heraklion University Hospital, Neurological Clinic of Heraklion University Hospital. 8th Pancretan Medical Congress. Agios Nikolaos, Crete, Oct Case of Nieman Pick C disease in a 6,5 year old girl. Grafakou O., Voutoufianakis S., Cleftogianni I., Calligiannaki M., Paraskakis E., Savaki H., Evangeliou A. Pediatric Clinic of Rethymnon General Hospital, Neurological Clinic of Heraklion University Hospital. 8th Pancretan Medical Congress. Agios Nikolaos, Crete, Oct Case of giant axis neuropathy. Voutoufianakis S., Stefanopoulou C., Grafakou O., Giannousi E., Pateraki E., Dimitromanolaki E., Hanefelt F. Pediatric Clinic of Rethymnon General Hospital. 35th Panhellenic Pediatric Congress. Agia Pelagia, Crete, June 1997.

3 3 4. Short spells of unknown etiology in infancy Voudris K., Markouris M., Katsaloulis M., Grafakou O., Salapata M., Prezerakou A., Katsarou E., Mavromatis P. Neurology Department and Second Department of Pediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece. 4 th European epileptology Congress Florence, Italy, October 7-12, Mikrodialyse im muskulären und subkutanen Kompartiment bei einer Patientin mit Mitochondriopathie C.-V. Kannan, M. Safavi, A. Baum, O. Grafakou, J. Smeitink, K. O. Schwab, Zentrum für Kinderheilkunde und Jugendmedizin, Universitätsklinik Freiburg; University of Nijmegen Bonn, Germany, 11/9-14/ Development of subdural effusions: pyruvate dehydrogenase complex (PDHc) deficiency can be mistaken for shaken baby syndrome. O. Grafakou, A. Xaidara, P. Nikolaidou, M. Raissaki, A. Giannopoulos, R. Rodenbourg, B. van den Heuvel, J. Smeitink, A. Evangeliou Euromit 6, Nijmegen, The Netherlands,June 39 th - July 4 th, Radial microbrain Marinaki M, Klisarchaki A, Voutoufianakis S, Grafakou O, Kokori E, Tsilimigaki A 14 th Pancretan Medical Congress, Georgioupoli 29/10/08-1/11/ Familial and non-familial infantile seizures. Four years of experience Vorgia L, Voutoufianakis S, Grafakou O, Christoforidis I, Kalmanti M. 4 th Panhellenic Congress of Epilepsy, Alexandroupoli November 2008 PUBLICATIONS IN THE METABOLIC- NEUROGENETIC FIELD 1. Exercise intolerance, muscle pain and lactic academia due to a G7497A mutation in the trna SER(UCN) gene. Grafakou O, Hol FA, Schwab KO, Siers MA, terlaak H, Trijbels F, Ensenhauer R, Boelen C, Smeitink J.J Inherit Metab Dis 26(2003) Leigh syndrome due to compound heterozygosity of lipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation Grafakou O, Oexle K, Van den Heuvel L, Smeets R, Trijbels F,Goebel H, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J.Eur J Pediatr (2003) 162: L-carnitine: when and where is it necessary? O.Grafakou, M.Spilioti, K. Stefanopoulou, A. Evangeliou. Primary Health Care (2003)15(3): (greek) 4. Development of subdural effusions in association with pyruvate dehydrogenase deficiency Raissaki M, Grafakou O, Giannopoulos A, Spilioti M, Rodenburg R, Smeitink J, Evangeliou A, Gourtsoyannis N. Eur Radiol (2005) 15:

4 4 5. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies Lefeber DJ, Schönberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grünewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. Am J Hum Genet. (2009) 85: Short spells of unknown etiology in infancy Voudris K., Markouris M., Katsaloulis M., Grafakou O., Salapata M., Prezerakou A., Katsarou E., Mavromatis P. [abstract] Epilepsia (2000) Vol 41 Suppl p Infliximab and Etanercept in the treatment of juvenile idiopathic arthritis. The Athens experience. O. Vougiouka, S. Rizou, O. Grafakou, T. Karpathios. [abstract]. Ann Rheum Dis 2001:60 Suppl. ii P176 Η παραπάνω εργασία περιλαμβάνεται στις βιβλιογραφικές αναφορές του άρθρου ανασκόπησης D. Lovell. Biologic agents for the treatment of juvenile Rheumatoid Athritis. Pediatr Drugs 2004; 6:3, Development of subdural effusions: pyruvate dehydrogenase complex (PDHc) deficiency can be mistaken for shaken baby syndrome. O. Grafakou, A. Xaidara, P. Nikolaidou, M. Raissaki, A. Giannopoulos, R. Rodenbourg, B. van den Heuvel, J. Smeitink, A. Evangeliou [abstract] Biochimica et Biophysica Acta 1657 (2004) p.84 PRESENTATIONS- LECTURES 1. I participated as member of the organising committee, chairperson and lecturer in the third Hellenic- Italian Child Rheumatology Conference organized by the Pediatric Departments of Venizeleion Tertiary Hospital of Heraklion entitled Non-Inflammatory arthropathies in childhood on October 17th 2010 focusing on MPS 2. I participated as lecturer in the 10th Panhellenic Child Neurology Congress organized by the Hellenic Child Neurology Society in Athens 9-10 December 2010 with the subject Mitochondrial Diseases 3. I participated as lecturer in the scientific conference organized by the Pediatric Departments of Venizeleion Tertiary Hospital of Heraklion entitled Niemann Pick type C disease in children and adults in Heraklion on May 25th 2011 with the subject Niemann Pick type C disease in children 4. I participated as lecturer in the 10th Educational Scientific Conference organized by the Pediatric Departments of Venizeleion Tertiary Hospital of Heraklion in Heraklion on February 11th 2012 with the subject Hereditary Metabolic Diseases. Diagnostic Approach 5. Since 2008, I have been participating in the Pediatric Residents' Educational Programme of Venizeleion Hospital and Rethymnon General Hospital giving the following lectures Diagnostic approach of metabolic disease Hypoglycemia in infants and children Ammonia, CK, lactate and inborn errors of metabolism

5 5 Mitochondrial Diseases Hyperammonemia. Diagnostic approach ATTENDED METABOLIC COURSES I have followed the following courses 1. 2 nd Focus Course: Protein Glycosylation in Health and Disease organized by Orphan Europe Academy, Euroglycanet and greek Health Institute in Athens 31 Mar- 1 Apr Focus Course: Glycogen Storage Diseases organized in Manchester, UK by Orphan Europe Academy, April Metabolic Course organized in Nijmegen, the Netherlands by Orphan Europe Academy, 2-7 November Advanced metabolic Course organized in San Servolo, Venice, Italy by Orphan Europe Academy, May 2010 ATTENDED MEETINGS-CONGRESSES IN THE METABOLIC- NEUROGENETIC FIELD I have attended the following meetings and congresses 1. 7 th Special Postgatuate seminar Issues in Child Neurology A Pediatric Clinic, Athens University, Athens April 24, Clinical management of MPS I. April , Naples, Italy 3. 6 th European meeting on Mitochondrial Pathology (Euromit), Nijmegen, the Netherlands, june 30 th -jjuly 4 th st Αnnual Symposium of the society for the study of inborn errors of metabolism, Amsterdam, the Netherlands August 31-September 3, nd Αnnual Symposium of the society for the study of inborn errors of metabolism, Paris France, September 6 th 9 th, rd Hellenic- Italian Child Rheumatology Conference organized by the Pediatric Departments of Venizeleion Tertiary Hospital of Heraklion entitled Non- Inflammatory arthropathies in childhood on October 17th th Panhellenic Child Neurology Congress organized by the Hellenic Child Neurology Society in Athens 9-10 December st Panhellenic Educational Seminar on Inborn Errors of Metabolism organized by the Hellenic College of Pediatricians in Athens on December 11th st International Symposium for the Inborn Errors of Metabolism organized by HSSIEM in Athens on February rd Scientific Symposium on Niemann Pick C organized in Prague on 9-10 April 2011

6 6 11. Scientific Conference Niemann Pick type C disease in children and adults organized by the Pediatric Departments of Venizeleion Tertiary Hospital of Heraklion, in Heraklion on May 25th nd Panhellenic Educational Seminar on Inborn Errors of Metabolism organized by the Hellenic College of Pediatricians in Athens on October 1st th Educational Scientific Conference organized by the Pediatric Departments of Venizeleion Tertiary Hospital of Heraklion in Heraklion on February 11th 2012 with a round table on Hereditary Metabolic Diseases 14. 4th Scientific Symposium on Niemann-Pick Type C: The Expanding Universe of NP-C. Athens, Greece, March 2012