3rd MEETING ON RARE DISEASE IN SOUTHEASTERN EUROPE

Abstract

On November 15th, 2014, at the Macedonian Academy of Science and Art (MANU), the third conference on rare diseases in Southeastern Europe was held.
The conference was officially opened by Prof. Dr. Zoran Guchev who welcomed the participants and wished them successful work. The First Lady of the Republic of Macedonia, Mrs.Maja Ivanova had her welcomed speech, who is also the patron of the association for rare diseases ,,Life with Challenges“ and for two years in a row she was awarded the title of European honorary patron of the European Association for rare diseases EURORDIS from Brussels. With her inclusion in the community, Ivanova took a significant commitment in the field of rare diseases at nationaland European level. Ivanova called for support of the initiative to declare 2019 the European Year of rare diseases, when it will be the 20th anniversary since the adoption of the Regulation of the European Union for medical products for rare diseases and 10th since the recommendation of the European Council for more activities in the field of rare diseases. The director of the Research Center for Genetic Engineering and Biotechnology ,,G.D. Efremov“ the academician Momir Polenakovic stressed the need for National plan for rare diseases, because so far there is no standardized approach for rare diseases. Also, there is no developed awareness and measuring of the treatment.
The director of the Children's Clinic, Prof. Dr. Aspazija Sofijanova, in her speech said that according to the statistics, in every 2000 people in the world there is one with a rare disease. It is estimated that 350 million people have one of those rare diseases. From the current 7000 various existing rare diseases, there is anadequate therapy only for 5 percent of them. She added that this year, the Commission on rare diseases in Macedonia aims to formulate a registry for patients to determine the exact needed therapy and supplements for the patients. The most common rare disease in Macedonia is the Gaucher disease. 13 patients are in fected with this disease, seven of them are children.

The conference was divided into two sessions. In the first session, Zvi Laron from Israel spoke about The improvement of the mechanism for cancer protection in Laron Patients and The growth and puberty in congenital isolated GH deficiency. Martin Savage from London, UK spoke on the topic Rare and frequent indications for GH treatment. For then europathology in autism Gorazd Rosoklija from USA had a presentation. Cristiane Zweir from Germany had a presentation on The clinical and molecular aspects of Pitt-Hopkins syndrome. Tatjana Zorchec from Macedonia spoken on the topic Whether autism is a rare disease. Zoran Guchev from Macedonia spoke about Molecular basis of spondilocostal dysplasia. Timothy Cox from Cambridge, UK, gave us An overview of the Gaucher disease. Vukasin Andric from Zagreb, Croatia with his presentation introduced us with The substrate reduction therapy (SRT) for the Gaucher disease.

The second session was opened by Julian Naskov from Ljubljana, Slovenia with his presentation about The value of innovation. Vladimir Lozanovski from Germany spoke about The progressive Familial Intrahepatic Cholestasis (PFIC) - from Surgeon’s perspective. Velibor Tasic from Macedonia spoke about The genetics of nephrolithiasis and nephrocalcinosis. Aco Kostovski from Macedonia introduced us to the challenges in diagnosis and treatment of the Wilson's disease.
Vesna Aleksovska, President of the Association Life with Challenges of Macedonia, explained the importance of the implementation of the National plan for rare diseases in Macedonia. Stephan Storch from Germany spokeon the topic Neuronal Ceroid Lipofuscinosis: Overview and New Results in the Brain and Retinaina Mouse Model. For IGF1-R genealterations in children born small for the gestationalage (SGA).
The conference was closed by Zvi Laron from Israel with his presentation on the topic Does childhood Type I diabetes start in utero?