Recent Advances in Rare Disease: Frequently misdiagnosed hereditary disorders (FREMIDIS) – multidisciplinary translational research affects global clinical impact

Dear colleagues and friends,

It is our pleasure to invite you to the 3rd meeting of our international “Recent Advances in Rare Disease – RARD: FREQUENTLY MISDIAGNOSED HEREDITARY DISORDERS (FREMIDIS)” conference.
Given the still low level of knowledge in that arena of medicine, the complexity of rare diseases and the limited natural history data, global expert exchange is a mandatory part towards the future of personalized medicine and development of new drugs.

The dedication to help as many rare disease patients lead an as normal life as possible by transforming our genetic understanding, clinical and R&D data into answers drives the conference’s spirit: bringing together experienced scientists, physicians and clinicians to exchange expertise, recent research data and the future development. Moreover, we have always to follow the rule that early diagnosis of patients with rare hereditary disorders is a must to give them the chance for specific treatment as well as genetic counselling.

We are very pleased to have you participating in this unique networking forum to be held in 2019 in Bogota. This event will act as a great encouragement for our future endeavors - having the patient always in the center of our actions.

Prof. Arndt Rolfs

Scientific advisory committee

Prof. Ari Zimran/Israel

Prof. Mia Horowitz/Israel

Prof. Uma Ramaswami/UK

Prof. Elena Lukina/Russia

Prof. Roberto Giugliani/Brazil

Dr. Ludwig Luis Antonio Albornoz Tovar/Colombia

Prof. Joaquín Carrillo Farga/Mexico

Dr. Paula Rozenfeld/Argentina

Dr. L Monteiro/Brazil


Agenda


Thursday, June 20, 2019

09:00 – 09:15 Welcome and introduction to Bogota NN
09:15 – 10:00 Opening Lecture – "Lets un-rare the rare diseases" A Rolfs, Germany
10:00 – 10:45 New horizons in the therapy of genetic diseases LLA Albornoz Tovar, Colombia

Hot topics (chairs: C Kurschat, Germany; L Monteiro, Brazil)

10:45 – 11:15 Stem cell therapy for the central nervous system in lysosomal storage diseases JH Wolfe, USA
11:15 – 11:45 Many genes are involved – lessons to be learnt for the ER in LSD M Horowitz, Israel
11:45 – 12:15 Epigenetics in lysosomal storage disorders E Sidransky, USA
12:15 – 12:45 Controversies in Gaucher disease A Zimran, Israel
12:45 – 14:00 LUNCH
14:00 – 14:30 LSD in LATAM – an example for unmet needs in rare diseases R Giugliani, Brazil
14:30 – 15:00 Therapy of Gaucher disease in Pakistan H Cheema, Pakistan
15:30 – 16:00 Treatment of rare hereditary diseases – lessons for emerging countries U Ramaswami, UK

Friday, June 21, 2019

SMA (chair: NN)

08:00 – 08:30 Natural history of infantile-onset spinal muscular atrophy SJ Kolb, USA
08:30 – 09:00 Pan-ethnic carrier screening and prenatal diagnosis for SMA CN Lee, Taiwan
09:00 – 09:30 Nusinersen in infantile-onset spinal muscular atrophy RS Finkel, USA
09:30 – 10:00 Single-dose AAV9 gene-replacement therapy for spinal muscular atrophy NN
10:00 – 10:30 COFFEE BREAK

Metabolic Myopathies (chair: JC Farga, Mexico)

10:30 – 11:00 Treatment opportunities in patients with metabolic myopathies J Vissing, Denmark
11:00 – 11:30 Infantile-onset Pompe disease: early clinical features and treatment response C Ellaway, Australia
11:30 – 12:00 Early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile Pompe disease P Kishnani, USA
12:00 – 12:30 Cardiac outcome in Pompe disease AT van der Ploeg, The Netherlands
12:30 – 13:00 Hereditary Cardiomyopathies: decision-making about genetic testing C Louis, USA
13:00 – 14:00 LUNCH

DMD and LGMD (chair: NN)

14:00 – 14:30 Nicrodystrophin gene therapy in Duchenne muscular dystrophy C Le Guiner, France
14:30 – 15:00 Small molecules for the modulation of utrophin in the therapy of DMD S Guiraud, UK
15:00 – 15:30 Duchenne muscular dystrophy: CRISPR/Cas9 treatment D Duan, Colombia
15:30 – 16:00 Epidemiology, clinical manifestation and diagnostic options in limb-girdle dystrophies (LGMD) C Angelini, Italy
16:00 – 17:30 Poster presentations 1

Saturday, June 22, 2019

Plenary lecture (chair: NN)

08:00 – 08:30 Strategies for clinical implementation of screening for hereditary disorders P Bauer, Germany
08:30 – 09:00 What is new in iPS cells in metabolic diseases R Feldman, USA
09:00 – 09:30 Experimental therapeutics in animal models in LSDs R D’Hooge, Belgium

Parallel sessions

Session 1: CLN (chair: LLA Albornoz Tovar, Colombia)

09:45 – 10:15 Whole exome sequencing data to determine the prevalence of different neuronal ceroid lipofuscinosis forms J Xing, USA
10:15 – 10:45 Cell biology and function of neuronal ceroid lipofuscinosis-related proteins NN
10:45 – 11:15 Progranulin, lysosomal regulation and neurodegenerative disease EJ Huang, USA
11:15 – 11:45 Translating preclinical models of neuronal ceroid lipofuscinosis in clinical settings JD Cooper, UK

Session 2: Tandem MS/MS in hereditary metabolic disorders – basic science impacts clinical decisions (chair: NN)

09:45 – 10:15 Metabolic disorder screening by mass spectrometry – what are we learning G La Marca, Italy
10:15 – 10:45 Diagnosis of lysosomal storage disorders using liquid chromatography-tandem mass spectrometry R Mashima, Japan
10:45 – 11:15 LSD screening: mass spectrometry is the future C Cozma, Germany
11:15 – 11:45 Why is early and simple diagnosis critical in LSDs C Kurschat, Germany

Session 3: Lysosomal storage disorders (chair: Maciej Machaczka, Sweden/Poland)

09:45 – 10:15 Screening strategies in lysosomal disorders P Rozenfeld, Argentina
10:15 – 10:45 Gaucher disease – can we expect a further improvement of therapeutic goals O Goker-Alpan, USA
10:45 – 11:15 Long-term complications in Gaucher disease S Revel-Vilk, Israel
11:15 – 11:45 Late onset manifestation in NPC M Patterson, USA

Session 4: aHUS and PNH (chair: NN)

09:45 – 10:15 Genetics and differential diagnostics in aHUS L Monteiro, Brazil
10:15 – 10:45 Genotype-phenotype correlations of low-frequency variants in the complement system A de Breuk, The Netherlands
10:45 – 11:15 Clinical predictors of atypical hemolytic uremic syndrome phenotype and outcome NJ Soler, Spain
11:15 – 11:45 General practice in PNH treatment J Szer, Australia

11:45 – 12:15 COFFEE BREAK
12:15 – 13:15 Unsolved cases session NN
13:15 – 14:15 LUNCH
14:15 – 16:15 Poster presentations 2
16:15 – 16:30 Conference summary and closing – Lecture highlighting the future avenues for diagnosis and therapy NN
19:00 – 22:00 Networking Dinner / Poster Prizes

Information

Visa information

Please, check if you need visa for Colombia going to the link:
http://www.cancilleria.gov.co/en/procedures_services/visa/requirements choose “tourism/event participation” as trip purpose.

Here is the list of countries which citizens need visa to Colombia:
Albania, Algeria, Armenia, Bahrain, Benin, Belorussia, Botswana, Burkina Faso,  Burundi, Vanuatu, Vietnam, Cabo Verde, Cameroon, Cambodia,  Chad, Komory, Congo, Cote D`Ivoire, Egypt, Gabon, Gambia, Ghana, Guinea, Guinea-Bissau, Haiti, India, Kenya, Kyrgyzstan, Kiribati, Kosovo, Lesotho, Macedonia, Madagascar, Malawi,  Maldives, Morocco, Mauritius, Mauritania, Moldova, Mongolia, Namibia, Nauru, Nepal, Nicaragua, Niger, Oman, Central African Republic, Ruanda, San-Tome and Principe, Senegal, Seychelles, Swaziland, Thailand, Tanzania, Tajikistan, Eastern Timor, Togo, Tonga, Tunisia, Turkmenistan, Tuvalu, Ukraine, Uzbekistan, Ethiopia,  Eretria, Zambia, Zimbabwe.  

In case you need visa you can see contact information of Colombian consulate in your country here.

Cost coverage

There is no participation fee for attending the conference. Accommodation and conference catering is at no cost for participants. Participants will be reimbursed for their travel costs according to fixed lump sums  after the conference according to the provided receipts. 

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Good to know before travelling

Please find some important information below. We recommend you to read this before travelling.

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Hotel information

The RARD 2019 conference will take place in the Convention Center Tequendama Hotel, Bogota.

For more information please visit their website.

Check-in time: June 19, 2019, from 3 pm
Check-out time: June 23, 2019, till 1 pm

Please contact Irina Ovcharenko concerning all issues on early check-in, late check-out or prolongation of your stay.

 

Contact Us

Please contact regarding your matter our experts via email.

Conference organisation, Abstract management and Sponsorship

Anke Schneider  RARD(at)centogene(dot)com

Hotel accommodation, Visa and Airport transfer

Irina Ovcharenko  BogotaRARD(at)gmail(dot)com

RARD

RARD 2018 Delhi / India

The second meeting of the RARD series took place 3-5 May 2018 in New-Delhi/India. More than 200 international experts, scientists and clinicians discussed and exchanged experiences, current research data and addressed the future development of new treatments for rare genetic disorders.

Agenda 2018