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

Dear colleagues and friends,

The 3rd annual RARD conference in Bogotá has come to an end, and we look back on a successful few days of global expert exchange where we worked together to drive a future of personalized medicine for our patients and the development of new orphan drugs.

A big thank you to all participants and speakers, and everyone who helped make the conference an important event for our rare disease patients around the world.

You can find some photographic impressions of RARD 2019 under https://files.centogene.com/ – please ask for access data by mail to rard(at)centogene(dot)com and your access data will be emailed to you.

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


Testimonials

RARD has received very positive feedback from many of our participants. Here are a few of the responses:

The meeting was wonderful, I had a great time and lots of learning.
Looking forward to seeing you next year.
All the best,
Dafne Horovitz, Rio De Janeiro, Brazil


Thank you very much for everything, all organization and kindness.
Sincerely,
Agne Cerkauskaite, Vilnius, Lithuania

Thanks again with all the help in the conference, the case presentation was very good and we will be able to help the patient and his family!
Thanks again for everything,
Charles Marques Lourenço, Ribeirao Preto, Brazil 



I am writing this message for congratulate you for the excellent meeting held in Bogotá few days ago. The program was fantastic and the organization excellent. Also, the program was well balanced with very intensive scientific sessions and a nice social program, proportioning a rich and warm atmosphere to this truly global event. It was a pleasure and an honor to serve in the RARD Scientific Advisory Committee and to have the opportunity to contribute to this important initiative.
Best regards,
Roberto Giugliani, Porto Alegre, Brazil


I would like to thank one more time for the RARD meeting in Bogota. It was great to participate in such important meeting and meet with the international experts and Centogene team.
Warm regards,
Selim Canatan, Antalya, Turkey


I am honored to have been invited to participate in such a nice meeting with all the leaders in the field. A note about the Hotel Tequendama. I found the hotel staff extremely courteous, attentive and helpful. The IT people were very competent. I would choose this hotel again.
Kind regards,
Ricardo A. Feldman, Baltimore, USA


I wanted to thank you for a great time, and a wonderful meeting in Bogota !
The organization, the lectures, and all around was 100% planed and done.
You are the best !
Tama Dinur, Jerusalem, Israel

I am so thankful to give me such amazing opportunity participating at RARD 2019, which was great experience and professional involvement for me, also I would like to mention that I am under impression till now, everything was great, Thanks a lot to organizing committee.
Kind regards,
Marika Sulashvili, Tbilisi, Georgia


The meeting was really productive and I hope my participation has been good.
I really appreciate your help and support.
Best regards and hopefully see you in South Africa next year,
Moisés Fiesco, Mexico City, Mexico



I would like to thank you all for organizing a very successful, interesting, well organized meeting in Bogota. The atmosphere was great, science was very good, topics well extremely interesting!!!
Really, it was a great success!!!!
From the bottom of my heart THANK YOU ALL!!!!!
Mia Horowitz, Tel Aviv, Israel


Thank you for a wonderful and stimulating conference and thank you for your generosity in organizing the conference. Bringing together people from different sides of the LSD subject, research and clinical, and from different parts of the world was an inspired decision which, in my opinion, paid off. It was my first time to attend the RARD meeting and was a wonderful experience. Thank you again for inviting me to the conference, I really appreciate it. Looking forward to work more with Centogene and the next meeting.
Kind regards,
Nahid Tayebi, Bethesda, USA

I just wanted to take a moment and say thank you for giving me the opportunity to be a part of this conference. I gained knowledge which will be very valuable in my daily clinical practice. This will allow me to provide better patient care. Again, I am very grateful for this opportunity. I hope you will keep me in consideration for the conference in Cape Town, South Africa 2020.
Best regards,
Noelia Salmeron, Tampa, USA


Agenda


Thursday, June 20, 2019

09:00 – 09:15 Welcome and introduction to Bogota Dr. Iván Darío González Ortiz, Viceministro de Salud Pública y Prestación de Servicios, Colombia
09:15 – 10:00 Opening Lecture – "Lets un-rare the rare diseases" A Rolfs, Germany
10:00 – 10:45 A call for improving standards of practice for medical genetics, genetic counseling and clinical laboratory genetics in Colombia - New horizons in the therapy of genetic diseases LLA Albornoz Tovar, Colombia
10:45 – 11:15 COFFEE BREAK

Hot topics (chairs: N Tayebi, USA; L Monteiro, Brazil)

11:15 – 11:45 Stem cell therapy for the central nervous system in lysosomal storage diseases JH Wolfe, USA
11:45 – 12:15 Many genes are involved – lessons to be learnt for the ER in LSD M Horowitz, Israel
12:15 – 12:45 Phenotypic heterogeneity in LSDs: mutations, modifiers and epigenetics E Sidransky, USA
12:45 – 14:00 LUNCH
14:00 – 14:30 Long-term complications in Gaucher disease S Revel Vilk, Israel
14:30 – 15:00 LSD in LATAM – an example for unmet needs in rare diseases R Giugliani, Brazil
15:00 – 15:30 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

Plenary lecture (chair: A Zimran, Israel)

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
09:30 – 10:00 Why is early and simple diagnosis critical in LSDs C Kurschat, Germany
10:00 – 10:30 Hereditary Cardiomyopathies: decision-making about genetic testing C Louis, USA
10:30 – 11:00 COFFEE BREAK

DMD and LGMD (chair: G Lopez, USA)

11:00 – 11:30 Genetic diagnosis in Duchenne muscular dystrophy J Saute, Brazil
11:30 – 12:00 Clinical and molecular characterization of a cohort of Colombian atients with Duchenne Muscular Dystrophy F Suarez Obando, Colombia
12:00 – 12:30 Duchenne muscular dystrophy: CRISPR/Cas9 treatment D Duan, USA
12:30 – 13:00 Epidemiology, clinical manifestation and diagnostic options in limb-girdle dystrophies (LGMD) C Angelini, Italy
13:00 – 14:00 LUNCH

Patient Advocacy (chair: C Kurschat, Germany)

14:00 - 14:20 Journey from a parent to a patient advocate or Challenges with patient advocacy in Pakistan AE Qureshi, Pakistan
14:20 - 14:40 Role of patient advocacy in rare diseases PP Aragon, Mexico
14:40 - 15:15 Panel Discussion “Collaborations: Advocacy, Pharma and Academia”
15:15 - 16:15 Poster presentations 1

Saturday, June 22, 2019

Parallel sessions

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

09:00 – 09:30 Importance of the neurocognitive assessment in the neurodegenerative LSDs H Amartino, Argentina
09:30 - 10:00 Lysosomal dysfunction in neurodegeneration G Lopez, USA
10:00 - 10:30 Future therapeutic approaches for neuronal ceroid lipofuscinosis A Rahim, UK
10:30 - 11:00 Diagnosis and future therapeutic options for Limb-Girdle Muscular Dystrophies (LGMD) J Saute, Brazil

Session 2: Tandem MS/MS in hereditary metabolic disorders – basic science impacts clinical decisions (chair: JC Farga, Mexico)

09:00 – 09:30 Metabolic disorder screening by mass spectrometry – what are we learning G La Marca, Italy
09:30 – 10:00 Metabolomics for clinical diagnosis of inborn errors of metabolism A Rahman, Saudi Arabia
10:00 – 10:30 LSD screening: mass spectrometry is the future C Cozma, Germany
10:30 – 11:00 Podocyturia evaluation in Fabry disease using a mass spectrometry approach C Auray-Blais, Canada

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

09:00 – 09:30 Screening strategies in lysosomal disorders P Rozenfeld, Argentina
09:30 – 10:00 Gaucher disease – can we expect a further improvement of therapeutic goals O Goker-Alpan, USA
10:00 – 10:30 Controversies in Gaucher disease A Zimran, Israel
10:30 – 11:00 Late onset manifestation in NPC M Patterson, USA

Session 4: aHUS and PNH (chair: R Giugliani, Brazil)

09:00 – 09:30 Genetics and differential diagnostics in aHUS L Monteiro, Brazil
09:30 – 10:00 Genotype-phenotype correlations of low-frequency variants in the complement system A de Breuk, The Netherlands
10:00 – 10:30 aHUS and PNH: two diseases, one treatment. Clinical predictors of outcome and response P Muus, UK
10:30 – 11:00 General practice in PNH treatment J Szer, Australia

11:00 – 11:30 COFFEE BREAK
11:30 – 13:00 Unsolved cases session FP Vairo, USA
13:00 – 14:00 LUNCH
14:00 – 16:30 Poster presentations 2
16:30 – 16:45 Conference summary and closing – Lecture highlighting the future avenues for diagnosis and therapy A Rolfs, Germany
19:00 – 22:00 Networking Dinner / Poster Prizes

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