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Symposium Genomics of Rare Diseases General information

GENOMICS OF RARE DISEASES
SERBORDISINN & GOLDEN HELIX SYMPOSIUM
31. October – 1. November 2014.

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Meeting venue: Hotel Tulip Inn Putnik, Belgrade, Serbia www.tulipinnputnikbelgrade.com

Participants of Genomics of Rare Diseases SERBORDISinn and GoldenHelix Symposium could benefit from reduced room price in the Tulip Inn Putnik Hotel. For beneficial price please contact hotel directly. Contact person is Milica Tošić: mtosic@tulipinnputnikbelgrade.com

Registration: You may register online via SERBORDISinn.rs or GoldenHelix.org


Participation is free of charge.

The Symposium is accredited by the Health Council of Serbia (A-1-1990/14) to provide continuing medical education for physicians and biochemists (for lecturers 11 CME credits, for participants 5 CME credits).

Download updated SCIENTIFIC PROGRAM of Genomics of Rare Diseases in PDF format.

Abstract information

Abstract submission is optional. However, all submitted abstracts will be at display during Symposium and the Award will be given to the Best Abstract.

The corresponding author of the Best Abstract will be notified by October 20th in order to prepare 10 minutes oral presentation that will be held on October 31st at 16:30 hours.

Preparing an abstract for submission:

Abstract title (up to 50 word), Authors, Authors’ Affiliations, Text (up to 350 words) and the corresponding author’s e-mail.

Presentation format (only posters):

Poster should not be bigger than 70 cm width and 90 cm high. You are expected to bring your poster to the registration desk on Friday, October 31st between 08:00-08:30. Posters will be available for viewing during coffee breaks and lunches on October 31st and November 1st. Posters will be removed on November 1st during lunch time (15:00 at the latest).

European Researchers’ Night 2014

European Researchers’ Night was organized on 26. 09. 2014. at the IMGGE. In order to promote science and IMGGE as the ExCe on MGs of RDs, we invited children with rare diseases to visit IMGGE and participate in experiments: “Understanding of the cell” and “DNA isolation”. In order to broaden impact of this activity, we made a short video presenting IMGGE as the focal point for research, diagnostics and innovation, as well as the centre that understands need of rare disease patients and aims to increase public awareness on rare diseases through promotion of science.

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Evropska Noć Istraživača u IMGGI

NI-2011Povodom obeležavanja Evropske Noći Istraživača u organizaciji SERBORDISinn projekta, pozivamo vas da posetite Institut za molekularnu genetiku i genetičko inženjerstvo Univerziteta u Beogradu (IMGGI) i saznate nešto više o genima i retkim bolestima. Imaćete priliku da sami izolujete svoju DNK kroz eksperiment koji je osmišljen tako da koristite namirnice koje su u svakodnevnoj upotrebi (tečni sapun, kuhinjska so, sok od ananasa itd).

Svaki čovek nosi jedinstven i neponovljiv DNK zapis u svojim genima. Zahvaljujući napretku nauke i istraživanjima širom sveta i kod nas, u današnje vreme raspolažemo metodama kojima možemo da pročitamo DNK zapis svakog čoveka. Primena ovih metoda je posebno važna u slučaju retkih bolesti jer omogućava postavljanje dijagnoze.

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Očekujemo vas u PETAK, 26. SEPTEMBRA 2014. od 12 do 15 časova na adresi Vojvode Stepe 444a, 11010 Beograd.

SERBORDISinn projekat, www.serbordisinn.rs, www.imgge.bg.ac.rs

Upcoming Symposium: Genomics of Rare Diseases

October 30th – November 1st, 2014, Belgrade, Republic of Serbia

The Symposium Faculty consists of international renowned speakers from Europe, the US and Asia.

The meeting will highlight the implementation of genomics to elucidate the molecular etiology of rare diseases in Serbia and the surrounding countries, as part of the EC-funded SERBORDISinn project.

Lastly, the meeting will feature the 2014 Genomic Medicine Alliance – pUblic Health Genomics award, presented for the best abstract submitted for this meeting.

Registration will open in July 2014.

For more information, registration and abstract submission, please click here to visit Golden Helix web site.
Download SCIENTIFIC PROGRAM of Genomics of Rare Diseases of Genomics of Rare Diseases Symposium in PDF format.

FOP: From Mysteries to Medicines

FOP (Fibrodysplasia Ossificans Progressiva) is one of the rarest, most disabling genetic conditions known to medicine. It causes bone to form in muscles, tendons, ligaments and other connective tissues.

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Professor Frederick Kaplan, M.D., is the Isaac and Rose Nassau Professor of Orthopaedic Molecular Medicine and Chief of the Division of Molecular Orthopaedic Medicine at the Perelman School of Medicine of the University of Pennsylvania. He has dedicated his professional career to patients suffering from the FOP. Professor Kaplan has received numerous awards and honors including Best Doctors in America and was recognized as an American Hero by Newsweek magazine. He now leads the only center dedicated exclusively to the basic research and amelioration of FOP, the Center for Research in FOP and Related Disorders.

Dr-Frederick-Kaplan01Professor Eileen Shore, Ph.D., is the Cali and Weldon FOP Research Professor in the Departments of Orthopaedics and Genetics in the Perelman School of Medicine at the University of Pennsylvania, and is the co-Director of the Center for Research in FOP and Related Disorders. Her work led to the discovery of the mutated genes in FOP, and she currently investigates the cellular targets and molecular pathways involved in regulation of cell differentiation leading to cartilage and bone formation and identifying and testing potential therapeutic strategies.

It is our great pleasure to announce the lectures of Prof Frederick Kaplan and prof Eileen Shore which will take place at the University Childrens’ Hospital, Belgrade, on May 13th 2014. The Symposium is organized by the Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, as an activity of the FP7-REGPOT-SERBORDISinn project.


Agenda:

University Childrens’ Hospital, Belgrade

May 13th 2014, 13 PM

  1. Dr Sonja Pavlović, FP7 REGPOT SERBORDISinn Project Coordinator
    Institute of Molecular Genetics and Genetic Engineering, University of Belgrade
Premier Next Generation Sequencing in Serbia
  1. Prof. dr Frederik Kaplan
    University of Pennsylvania, USA
FOP: From Mysteries to Medicines
  1. Dr Eileen Shore
    University of Pennsylvania, USA
Fibrodysplasia Ossificans Progressiva – a Rare Genetic Disorder of Extra-Skeletal Bone Formation
  1. Jelena Milošević, Belgrade
FOP from the patient’s perspective

Video reports:

RTS1 Jutarnji program – 13.05.2014.

RTS2 Svet zdravlja – 17.05.2014.

Premier NGS in IMGGE

Sophisticated research equipment, the Next-generation sequencing System (MiSeq, Illumina) has come to IMGGE. It will enable implementation of cutting-edge methodology for the study of molecular markers of rare diseases in the IMGGE.

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The first run on MiSeq Illumina has been successfully completed in IMGGE. Samples of childhood and adult acute myeloid and acute lymphoid leukemia, as well as lymphoma samples have been analyzed using TruSeq Amplicon – Cancer Panel (TSACP).

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To be continued…

Balkan Network for Rare Diseases “Bled 2013”

geneticari novi plakat finalgeneticari novi liflet 15x21 zadnja FINALSERBORDISinn has organized the Round Table entitled “Balkan Network for Rare Diseases: FP7 SERBORDISinn Project Goals”, as a Satellite Meeting on 2nd Alpe Adria meeting and 10th Balkan congress on human genetics, Bled 2013, on Saturday, October 12th 2013.

The event consisted of a talk entitled: ¨Molecular therapies of rare metabolic diseases¨ (Belen Perez, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid, Spain) and presentations of Sonja Pavlovic, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Serbia, Coordinator of the Project SERBORDISinn and Ales Maver, Institute of Medical Genetics, Department of Gynecology and Obstetrics, University Medical Centre Ljubljana, Slovenia. The presentations promoted the establishment of the Balkan Network for Rare Diseases.

Moderators were: Pavlovic S, Patrinos G, Peterlin B, Stojiljkovic Petrovic M

Galery

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Researchers Night

Retke bolesti na Noci Istrazivacaevropska noc istrazivaca nova verzijaResearchers’ Night in Belgrade was held in the very center of Belgrade, in Knez Mihailova Street, a pedestrian zone visited by thousands of people every day, in the Café  “Snezana”, September, 27th 2013. It was organized by the Institute of Molecular Genetics and Genetic Engineering and the team of SERBORDISinn Project.  The goal of the event was to attract as large as possible  number of participants to the event, to enable direct contact between participants and researchers and to offer participants education on research in the field of rare diseases.

It was organized as the  “Speed date” with researchers – quick conversation with scientists in a club atmosphere. Researchers were available for short talks and discussion on the topics related to rare diseases.

Galery

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