September 9 (Saturday)

Last updated on August 30, 2017

8.30 - 16.00 Registration

9.00 - 10.30 SESSION 2
Moderators: Rada Staneva, Ralitsa Yordanova PARALLEL SYMPOSIUM 2
Supported by Sanofi/Genzyme
Moderator: Ivaylo Tournev

Giovanni Neri RASopathies: clinical and molecular correlations Teodora Chamova Pompe disease – a treatable myopathy

Emilia Severin Cherubism – a rare genetic disorder Emil Paskalev Fabry disease – 10 years of experience of the Bulgarian expert centre [in Bulgarian]

Anastas Pashov Rational design of mimotope library for IgM repertoire studies Zlate Stojanoski Myeloproliferative neoplasm in patients with Gaucher disease

Oral presentations:

Olena Grechanina A rare disease of the mitochondrial respiratory chain – 3-methylglutaconic aciduria. Approach to diagnosis and rehabilitation

Yulia Grechanina Selective screening of mitochondrial dysfunction in a region with a high level of neurological diseases

10.30 - 11.00 Coffee break

11.00 - 12.30 SESSION 3
Supported by Novartis
Moderator: Ana Pejcic PARALLEL SYMPOSIUM 3
Supported by Shire
Moderator: Valeria Kaleva

Stamen Popov, Ivaylo Petrov From cost to value in rare diseases Valeria Kaleva New opportunities for personalized prophylaxis in patients with hemophilia A with Advate [in Bulgarian]

Silvia Vandeva Quality of life in acromegaly Stefan Goranov Feiba – review of clinical trials (Pro-FEIBA, PROOF, FENOC) [in Bulgarian]

Nataliya Grigorova Acromegaly – psychological consequences for the patient Denka Stoyanova Overview of thromboembolic events in congenital hemophilia, reported with Feiba over the last four decades [in Bulgarian]

12.30 - 13.30 Lunch break

13.30 - 14.30 POSTER SESSION 1
Poster jury: Dijana Plaseska Karanfilska, Borut Peterlin, Savina Hadjidekova

14.30 - 16.00 SESSION 4
Moderators: Vily Stoyanova, Dimitrina Konstantinova PARALLEL SYMPOSIUM 4
In collaboration with BACI
Moderators: Mariana Murdjeva, Marta Baleva

Radoslava Vazharova Application of targeted NGS in diagnostic work-up of patients with rare diseases Mariana Murdjeva, Marta Baleva Rare immune-mediated diseases in Bulgaria – the challenge continues [in Bulgarian]

Savina Hadjidekova Pre-implantational genetic testing for monogenic and chromosomal disorders: the experience in Bulgaria Snezhina Mihaylova Molecular diagnostics and genetic screening of primary immune deficiencies [in Bulgarian]

Oral presentations: Nevena Gesheva Study of the signaling pathways of T- and B-cell activation in common variable immunodeficiency - sight to the pathogenesis of disease [in Bulgarian]

Maya Atanasoska Pre-implantation genetic diagnosis in a family with Waardenburg syndrome Oral presentations:

Momchil Rizov Application of next-generation sequencing for balanced tranlocations in pre-implantation embryos Todorka Beleva-Popova Firazyr (icatibant) for treatment of hereditary angioedema (supported by Shire) [in Bulgarian]

Trifon Chervenkov Stem cell transplantation – present and future Petya Yankova Ataxia telangiectasia – case report [in Bulgarian]

Desislava Nesheva Ancient mtDNA studies on Thracian and Proto-Bulgarian samples: new perspectives on the origin of contemporary Bulgarians Neofit Spasov Homozygous MyD88 deficiency – case report and literature review [in Bulgarian]

16.00 - 16.30 Coffee break

14.30 - 16.00 SESSION 5-I
Moderators: Ugur Ozbek, Dragomira Nikolova SESSION 5-II
Moderators: Emilia Severin, Giovanni Neri

Dijana Plaseska Karanfilska Phenotype and genotype heterogeneity of thalassemia intermedia Ivaylo Tournev TTR FAP in Balkan countries

Valeria Kaleva Non-transfusion-dependent thalassaemia Stayko Sarafov TTR FAP in Bulgaria

Galina Kurteva Colorectal carcinoma – from genetic markers, response predictors for the treatment to personalized therapy and new genetic classification Mariana Gospodinova Cardiac involvement in patients with hereditary transthyretin amyloidosis associated with Glu89Gln mutation and its impact on prognosis

Oral presentations: Andrey Kirov Genetic screening for transthyretin amyloidosis in Bulgaria. Genetic profile of TTR-FAP: Glu89Gln founder effect

Emilija Shukarova Stefanovska Molecular defects determined among hemophilia patients in Republic of Macedonia Albena Todorova Genetic profile of TTR-FAP in Bulgaria: parent-of-origin difference in penetrance

Radka Kaneva Molecular profiling of hereditary breast and ovarian cancer in Bulgaria
Katerina Popovska-Jankovic Differential expression of 12 microRNAs in breast cancer and their potential use as markers for different clinicopathologic features

Please, note that the programme is subject to change and will be updated continuously up to the Congress. Visit the Congress website regularly to stay informed.