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

Dear colleagues and friends,

It is our pleasure to welcome you to the 2nd conference in the series Recent Advances in Rare Disease – RARD: Frequently Misdiagnosed Hereditary Disorders (FREMIDIS) – Multidisciplinary Translational Research Affects Global Clinical Impact.

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.

The dedication to help as many rare disease patients lead an as normal life as possible by transforming the worldwide science of genetic, clinical and R&D data into answers drives the conference’s spirit – bringing together international experts, scientists and clinicians to discuss and exchange experiences, current research data and the future development.

The projection for scientific exploration, clinical application and development of new treatments has been proven to be huge especially in the last years.

We would be very pleased to have you participate at this unique networking forum and we are looking forward to many stimulating talks and discussions as well as a great encourage for our future endeavors – having the patient always in the center of all what we do.


  • 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: Autophagy in metabolic disorders Y Ohsumi

Plenary Session

09:45 – 10:30 Lysosomes and lysosomal storage disorders B Winchester
10:30 – 11:15 Chaperones and its importance for the normalization of α-Synuclein E Sidransky
11:15 – 12:00 The critical importance of lifelong monitoring in LSD patients A Rolfs
12:00 – 13:30 LUNCH
13:30 – 14:00 Parkinson’s disease pathogenesis – what can we learn from new animal models P Brundin
14:00 – 14:30 Modern models for Gaucher disease – what can we learn? M Horowitz
14:30 – 15:00 Glucocerebrosidase gene and Parkinson’s disease CH Adler
15:00 – 15:30 The metabolism of glucocerebrosides Y Nagi
15:30 – 16:00 COFFEE BREAK
16:00 – 17:30 Panel discussion: translational research in hereditary metabolic disorders Chair: A Zimran
Friday, May 4

Tandem MS/MS in hereditary metabolic disorders - Basic science impacts clinical decisions (Part 1)

08:30 – 09:15 Metabolic disorder screening by mass spectrometry - future perspectives G La Marca
09:15 – 10:00 Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method C Cozma
10:00 – 10:45 Newborn screening: an ethical and policy analysis LF Ross
10:45 – 11:15 COFFEE BREAK

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

11:15 – 12:00 Clinical genome sequencing – is it ready for screening strategies? CF Wright
12:00 – 12:45 Strategies for clinical implementation of screening for hereditary disorders A Bertoli-Avella
12:45 – 13:30 Genomic medicine in hereditary angioedema revisited M Speletas
13:30 – 15:00 LUNCH
15:00 – 18:00 Poster session (Part 1)

Poster session

15:00 - 18:00 Poster session (Part 1)
Saturday, May 5

Plenary Session

08:00 – 08:30 Opening remarks – news in treatment of hereditary disorders R Giugliani
08:30 – 09:00 How to treat newly diagnosed patients with Gaucher disease? A Zimran
09:00 – 09:30 Iminosugars for the treatment of Gaucher disease D Elstein
09:30 – 10:00 Gene therapy in mucopolysaccharidosis JM Heard
10:00 – 10:30 Genome editing in hereditary metabolic disorders – are we already in the clinic J Schneller
10:30 – 11:00 News in Fabry disease treatment in children U Ramaswami
11:00 – 11:30 COFFEE BREAK

Parallel Sessions

Session 1. Paroxysmal nocturnal hemoglobinuria (PNH) - Chair: A Jalan

11:30 – 12:00 General practice in PNH treatment Je Szer
12:00 – 12:30 Immunological aspects in PNH treatment R Notaro
12:30 – 13:00 Renal manifestations in PNH KV Dakshinamurty

Session 2. aHUS – Chair: E Lukina

11:30 – 12:00 Genetics and differential diagnostics in aHUS L Monteiro
12:00 – 12:30 Genetics of immune-mediated glomerular diseases G Remuzzi
12:30 – 13:00 Treatment recommendations in aHUS MJ Soler

Session 3. Pompe disease – Chair: U Ramaswami

11:30 – 12:00 Treatment opportunities in patients with metabolic myopathies J Vissing
12:00 – 12:30 Genetics of paediatric cardiomyopathies SM Ware
12:30 – 13:00 The emerging phenotype of late-onset Pompe disease AT van der Ploeg

Session 4. Fabry disease – Chair: M Machaczka

11:30 – 12:00 Kidney and the relevance for Fabry ́s disease C Kurschat
12:00 – 12:30 How to diagnose Fabry’s disease nowadays D Germain
12:30 – 13:00 Why is the brain so important in Fabry disease? n.n.

Session 5. Hypophosphatasia (HPP) – Chair: R Giugliani

11:30 – 12:00 Pathophysiology of infantile hypophosphatasia M. Díaz-Hernández
12:00 – 12.30 Safety and efficacy of treatment in patients with hereditary hypophosphatasia K Ozono
12:30 – 13.00 Genetics in hypophosphatasia A Jalan

Session 6. Niemann Pick type C disease (NPC) – Chair: IC Verma

11:30 – 12:00 Late onset manifestation in NPC M Patterson
12:00 – 12.30 Treatment options in NPC JL Poveda
12:30 – 13.00 Innovative pharmacological screenings in NPC J Lukas

Session 7: TTR in clinical practice – Chair: A Rolfs

11:30 – 12:00 Classical manifestation and treatment options in TTR H Schmidt
12:00 – 12:30 Epidemiology in TTR – why do we miss our patients Y Parman
12:30 – 13:00 Genetics in TTR L Obici

Session 8: alpha-Mannosidosis – Chair: P Guatibonza Moreno

11:30 – 12:00 Pathophysiology in alpha-mannosidosis D Malm
12:00 – 12:30 DBS technology to improve early identification of alpha-mannosidosis A Rolfs
12:30 – 13.00 Treatment of alpha-mannosidosis R D’Hooge
13:00 – 14:30 LUNCH

Poster session

14:30 – 16:30 Poster session (part 2)
16:30 – 17:00 Poster Prizes – Conference summary and closing


Application process and deadline

Please note registration for this event is now closed. We will inform all registered participants about further details soon.

Visa information

All foreign nationals entering India are required to possess a valid international travel document in the form of a national passport with a valid visa obtained from an Indian Mission or Post abroad.

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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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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)med.uni-rostock(dot)de

Hotel accommodation, Visa and Airport transfer

Irina Ovcharenko  india.may2018(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