Date

5–6 March 2026

Location

The Cyprus Institute of Neurology & Genetics Nicosia, Cyprus

Language

English

Date

5–6 March 2026

Location

The Cyprus Institute of Neurology & Genetics Nicosia, Cyprus

Language

English

Advancement of Treatments for Rare Diseases

The Cyprus Institute of Neurology & Genetics and the Deputy Ministry of Research, Innovation and Digital Policy, are organising the conference “Advancement of Treatments for Rare Diseases” on 5-6 March 2026, at the Amphitheater, The Cyprus Institute of Neurology & Genetics Nicosia, Cyprus. Rare Diseases affect approximately 30 million people across the European Union and present unique challenges due to their complexity, rarity, and limited treatment options. Advancing research, improving access to innovative therapies, and strengthening collaboration across Europe are essential to improving outcomes for patients and their families.

The two-day event will highlight the EU’s ambition to make Europe a global leader in life sciences by 2030 and will focus on translating research and policy initiatives into tangible benefits for Rare Disease patients through better prevention, diagnosis, and treatment.

THE CONFERENCE

The Conference will feature the following key themes:

  • Strengthening EU Collaboration for Rare Diseases
  • Advancing Research, Innovation & Therapeutic Development
  • Improving Regulatory Frameworks for Orphan Drugs
  • Ensuring Accessibility, Equity & Patient-Centred Care
  • Enhancing Data Infrastructure, Security & Digital Innovation

WHO WILL ATTEND

The target audience includes government ministries and public authorities; healthcare providers and clinical experts; researchers and the scientific community; representatives from the pharmaceutical and biotechnology industry; patient organisations and advocacy groups; data, digital health, and technology specialists; health economics, ethics, and legal experts; European funding bodies and research agencies; NGOs; and other high-level multi-stakeholder representatives.

Conference agenda

Day 1

08:00- 08:30
Registration and coffee
08:30- 08:35
Opening and welcome Address

Leonidas Phylactou, CEO & Medical Director, CING

08:35- 08:40
Welcome Address and endorsement

TBC

08:40- 08:45
Welcome Address and endorsement

Olivér Várhelyi, EC Health and Animal Welfare Commissioner

08:45- 08:55
Welcome Address

Dr. Nicodemos Damianou, Deputy Minister of Research, Innovation and Digital Policy, Republic of Cyprus

Session 1: Current landscape and unmet needs in rare diseases

09:00- 09:20
Topic: European research on rare diseases: a long-standing commitment to make Europe a leader at global level

Carmen Laplaza Santos, Head of Unit Health Innovations and Ecosystems, DG Research & Innovation

09:20- 09:40
Topic: Witnessing and implementing change over the past 2 decades: the European Commission’s action on rare diseases and therapy development

Stella Kyriakides, former EC Health Commissioner

09:40- 10:00
Topic: A European inventory of rare diseases through the scope of ERNs

Donata Meroni, European Commission DG Sante

10:00- 10:20
Topic: Funding and patient advocacy organisations spearheading the effort against rare disease

Francois Lamy, Vice President of AFM Telethon

10:20- 10:40
Topic: EURORDIS’ role in facilitating therapies for rare diseases

Virginie Hivert, Head of Therapies and Access at EURORDIS

10:40- 11:10
Coffee Break

Session 2: A framework for developing rationally-designed therapies for rare diseases

11:10- 11:30
Topic: Regulatory considerations for rare disease drug development and approval

Tim Leest, Chair of EMA Committee for Orphan Medicinal Products

11:30- 11:50
Topic: The current state of affairs for developing rational therapies for rare diseases

Holm Graessner, Lancet Commissioner on Rare Diseases and ERN‑RND Coordinator

11:50- 12:10
Topic: ERDERA research initiatives for therapy development in rare diseases

Daria Julkowska, Scientific Coordinator of ERDERA

12:10- 13:00
Panel discussion: Creating incentives and overcoming bottlenecks

Speakers:

· Tim Leest, Chair of EMA Committee for Orphan Medicinal Products

· Holm Graessner, Lancet Commissioner on Rare Diseases and ERN-RND coordinator

· Daria Julkowska, Scientific coordinator of ERDERA

· Donata Meroni, European Commission DG Sante

· Francois Lamy, Vice President of AFM Telethon

· Violetta Anastasiadou, Chair of Cyprus National Committee for Rare Diseases

Moderator: Dr Carsten Lederer, Senior Scientist, Head of the Blood Disorders Genetics and Thalassaemia Department,The Cyprus Institute of Neurology & Genetics

13:00- 14:00
Lunch break

Session 3: Drug discovery, development and repurposing in rare diseases

14:00- 14:20
Topic: Channelling resources from national and supranational funding frameworks towards drug research and development

TBC

14:20- 14:40
Topic: The role of artificial intelligence in drug discovery and repurposing

Demetris Skourides, Cyprus Chief Scientist for Research, Innovation and Technology

14:50- 15:10
Topic: Building on knowledge and lessons learned: Developing Nusinersen for SMA

Priya Singhal, Biogen

15:10- 15:30
Topic: Innovative platform-based approach for sustainable repurposing of medicines for rare diseases

Anton Ussi, Coordinator of REMEDI4All

15:30- 15:50
Topic: A journey to Developing Curative Therapies for Hemoglobinopathies using Genome Editing

Matthew H. Porteus, Stanford University School of Medicine, Palo Alto

15:50- 16:30
Panel discussion: Synergies in academia and industry to accelerate drug development

Speakers:

  • Demetris Skourides, Cyprus Chief Scientist for Research, Innovation and Technology
  • Priya Singhal, Biogen
  • Anton Ussi, Coordinator of REMEDI4All
  • Matthew H. Porteus, Stanford University School of Medicine
  • Kaja Kantorska. Policy officer, DG Sante

 

Moderator: Dr Petros Petrou, Senior Scientist, Head of the Biochemical Genetics Department, The Cyprus Institute of Neurology & Genetics

16:30- 16:40
Closing Remarks

Day 2

08:00- 08:30
Registration and coffee

Session 4: Becoming trial-ready for rare diseases therapies

08:30- 08:45
Topic: Introducing initiatives to bring more clinical trials to Europe

Helene Le Borgne, Policy Officer, DG Research and Innovation

08:45- 09:05
Topic: Building an ecosystem for rare disease trial readiness

Maurizio Scarpa, Coordinator of MetabERN

09:05- 09:20
Topic: The European Platform on rare disease registration: Connecting data, accelerating care pathways and enabling research

Andri Papadopoulou, Scientific Officer, Joint Research Centre

09:20- 09:40
Topic: National Biobanks for Population and Rare Disease Research

Giedrė Kvedaravičienė, Director of the Lithuanian Population and Rare Diseases Biobank

09:40- 10:00
Topic: Clinical trials from the patients’ perspective

Allan Fred Byamukama

10:00- 10:30
Panel discussion: Stakeholders working together for clinical trial preparation

Speakers:

  • Helene Le Borgne, Policy Officer, DG Research and Innovation
  • Maurizio Scarpa, Coordinator of MetabERN
  • Andri Papadopoulou, Scientific Officer, Joint Research Centre
  • Giedrė Kvedaravičienė, Director of the Lithuanian Population and Rare Diseases Biobank
  • Allan Fred Byamukama
  • Virginie Hivert, Head of Therapies and Access at EURORDIS
  • Alexis Arzimanoglou, Coordinator of ERN EpiCARE

 

Moderator: Prof. Kleopas Kleopa, Senior Neurologist, Head of the Neuroscience Department, The Cyprus Institute of Neurology & Genetics

10:30- 11:00
Coffee Break

Session 5: Rollout of efficacious therapies: access and infrastructure considerations

11:00- 11:20
TBC
11:20- 11:40
Topic: Health economics of expensive therapies: considerations from the State

Neophytos Charalambides, Minister of Health, Republic of Cyprus

11:40- 12:00
Topic: Infrastructure considerations for delivering therapies at scale

Anne‑Sophie Lapointe, French representative in ERN Board of Member States

12:00- 12:20
Topic: Health Technology Assessment and Innovative Payment Models for therapies for rare diseases

Christine Leopold, Utrecht Center for Pharmaceutical Policy and Regulation / WHO Collaborating Center

12:20- 12:40
Topic: Competitive (mis)pricing in small markets: an example of DMD therapies

Panikos Voskos, President MDA Cyprus

12:40- 13:10
Panel discussion: Rare disease therapy delivery in the healthcare system: paths to sustainability

Speakers:

· Neophytos Charalambides, Minister of Health, Republic of Cyprus

· Anne-Sophie Lapointe, French representative in ERN Board of Member States

· Christine Leopold, Pharmaceutical system and policy researcher, Utrecht Center for Pharmaceutical Policy and Regulation / WHO Collaborating Center

· Panikos Voskos, President MDA Cyprus

· Stella Kyriakides, former EC Health Commissioner

Moderator: Dr Menelaos Pipis, Senior Neurologist, Head of the Neuropathology Department, The Cyprus Institute of Neurology & Genetics

 

13:10- 13:30
Closing Lecture

Leonidas Phylactou, CEO & Medical Director, CING