Recent Advances in Rare Diseases: Frequently Misdiagnosed Hereditary Disorders (FREMIDIS) – Multidisciplinary Translational Research Affects Global Clinical Impact

Dear colleagues and friends,

Thank you for attending the 2nd conference in the series Recent Advances in Rare Diseases  – RARD: Frequently Misdiagnosed Hereditary Disorders (FREMIDIS) – Multidisciplinary Translational Research Affects Global Clinical Impact.

Over a period of three days, from May 3rd until May 5th 2018, at the RARD conference, 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.

Given the complexity of rare diseases, the limited natural history data, and the smaller pool of patients to participate in clinical development, expert exchange is a necessary part towards the future of personalized medicine and orphan drug R&D. RARD conference addressed this issues by providing a unique network forum where the focus was to transform the worldwide science of genetic, clinical and R&D data into answers for the patients suffering from rare hereditary diseases.

RARD conference gathered an international audience and speakers from approximate 50 nationalities, and showcased the latest breakthroughs in genetics research and their applications to medical practice. The latest advances in the field of hereditary diseases were also communicated through a number of more than 40 posters presented at the conference.

The 2018 edition of RARD, Frequently Misdiagnosed Hereditary Disorders (FREMIDIS) – Multidisciplinary Translational Research Affects Global Clinical Impact,  was a success and we want to thank you to all the participants and speakers for their dedication and commitment to help the rare hereditary disease patient community worldwide.


  • Prof. Mia Horowitz /Israel
  • Prof. Anil Jalan /India
  • Prof. Elena Lukina /Russia
  • Prof. Uma Ramaswami /UK
  • Prof. Arndt Rolfs /Germany
  • Prof. IC Verma /India
  • Prof. Ari Zimran /Israel


Thursday, May 3
8:45 - 9:00 Welcome and introduction to Delhi IC Verma
9:00 - 9:45 Opening Lecture A Rolfs

Plenary Session

09:45 – 10:30 Lysosomes and lysosomal storage disorders B Winchester
10:30 – 11:15 Chaperones and the normalization of α-synuclein E Sidransky
11:15 – 12:00 In vivo gene therapy for (GD and) neurodegenerative disorders A Abeliovitch
12:00 – 13:00 LUNCH
13:00 – 13:30 Gaucher in Asia – an example for unmet needs in rare diseases H Kim
13:30 – 14:00 Therapy of Gaucher disease in Pakistan H Cheema
14:00 – 14:30 Management of Gaucher disease – lessons from large cohorts S Revel Vilk
14:30 – 15:00 COFFEE BREAK
15:00 – 15:30 Modern models for Gaucher disease – what can we learn? M Horowitz
15:30 – 16:00 iPS cells in Gaucher – a new chapter in an old story R Feldman
Friday, May 4

Genomics in hereditary metabolic disorders - Basic science impacts clinical decisions (Part 1)

08:30 – 09:15 Metabolic disorder screening by mass spectrometry - what are we learning G La Marca
09:15 – 10:00 LSD screening: mass spectrometry is the future C Cozma
10:00 – 10:45 Genetics and differential diagnostics in aHUS L Monteiro
10:45 – 11:15 COFFEE BREAK

Genomics in hereditary metabolic disorders - Basic science impacts clinical decisions (Part 2)

11:15 – 12:00 Diagnosing rare diseases in children – Gaucher as a model D Elstein
12:00 – 12:45 Strategies for screening in hereditary disorders P Bauer
12:45 – 13:45 LUNCH
13:45 – 14:30 Genomic medicine in hereditary angioedema revisited J Pesquero
14:30 – 15:15 New directions in Gaucher disease O Goker-Alpan

Poster session

15:15 - 16:30 Poster presentations (Part 1)
Saturday, May 5

Plenary Session

08:30 – 09:00 Opening remarks: News in treatment of MPS U Ramaswami
09:00 – 09:30 How to treat newly diagnosed patients with Gaucher disease? A Zimran
09:30 – 10:00 Gene therapy in Sanfilippo syndrome – 4 years results JM Heard
10:00 – 10:30 COFFEE BREAK
10:30 – 11:00 Human gene therapy trials in Fabry disease N Kreher
11:00 – 11:30 Experience of use of Genistein in MPS III A Jalan
11:30 – 12:00 Treatment opportunities in patients with metabolic myopathies J Vissing
12:00 – 13:00 LUNCH

Parallel Sessions

Session 1. Paroxysmal nocturnal hemoglobinuria (PNH) - Chair: E Lukina

13:00 – 13:30 General practice in PNH treatment J Szer
13:30 – 14:00 Renal manifestations in PNH KV Dakshinamurty
14:00 – 14:30 Patient cases with PNH

Session 2. Fabry disease – Chair: M Machaczka

13:00 – 13:30 Kidney and the relevance for Fabry ́s disease C Kurschat
13:30 – 14:00 How go diagnose in nowadays Fabry´s disease D Germain
14:00 – 14:30 Patient cases with Fabry

Session 3. Niemann Pick type C disease – Chair: IC Verma

13:00 – 13:30 Late onset manifestation in NPC M Patterson
13:30 – 14:00 iPS cells - a functional model in NPC J Lukas
14:00 – 14:30 Patient cases with NPC

Session 4. alpha-Mannosidosis - Chair: P Bauer

13:00 – 13:30 DBS technology for early detection of alpha-mannosidosis deficiency C Cozma
13:30 – 14:00 Experimental therapeutics in animal models of LSDs R D'Hooge
14:00 – 14:30 Treatment with ERT in alpha-mannosidosis M Ljungberg
14:30 – 15:00 COFFEE BREAK

Poster session

15:00 – 16:30 Poster presentations (part 2)
16:30 – 17:00 Conference summary and closing
19:30 – 22:30 Networking Dinner with Poster Prize Awards

Location facts

The word most often used to describe India is that it is a land of ‘diversity’. Visitors can look forward to a heady mix of the architectural grandeur, the multi-cultural milieu, the magnificent landscapes and the exceptionally tasty food – all of which will alter the way you view the world forever.

Apart from the exceptional scientific content, participants in RARD2018 can look forward to visiting Delhi, the vibrant capital city of India. The city is believed to have been continuously inhabited since the 6th century BC and has several exceptional historic buildings like the Qutub Minar, the Red Fort, Humayun’s Tomb as well as the new part of the city called Lutyens’ Delhi which is the seat of governmental power.


Contact Us

Please contact regarding your matter our experts via email.

Conference organisation, Abstract management and Sponsorship

Anke Schneider  rard2018(at)centogene(dot)com

Hotel accommodation, Visa and Airport transfer

Irina Ovcharenko  BogotaRARD(at)gmail(dot)com

RARD 2017 Moscow / Russia

The first meeting of the RARD series took place 18-20 May 2017 in Moscow/Russia with more than 250 participants from around the globe who discussed 3 days about “Recent advances in rare disease: Gaucher disease as a model (RARD 2017)”

Agenda 2017