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
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.
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.
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.
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.
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.
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.
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.
Noelia Salmeron, Tampa, USA
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
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|
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.