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.

Preliminary Programme

Day 1

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

Leonidas Phylactou, CEO & Medical Director, CING

Welcome Address and endorsement

Prof. Michael Komodromos, President of the Board of Directors of The Cyprus Institute of Neurology & Genetics

08:35- 08:40
Welcome Address and endorsement

Olivér Várhelyi, EC Health and Animal Welfare Commissioner (pre-recorded video)

08:40- 08:50
Welcome Address

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

08:50-09:00
Statement on Rare Diseases in Cyprus (Topic TBC)

Mr. Neophytos Charalambides, Minister of Health of the Republic of Cyprus

Session 1: Current landscape and unmet needs in rare diseases

09:00- 09:15
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

09:15- 09:30
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

09:30- 09:45
Topic: The European Economic and Social Committee’ exploratory opinion on the advancement of treatments for Rare Diseases

Dr. Milena Angelova, Member at the European Economic and Social Committee; rapporteur of the opinion

09:45- 10:00
Topic: Regulatory considerations for rare disease drug development and approval

Tim Leest, Chair of EMA Committee for Orphan Medicinal Products

10:00- 10:15
Topic: EURORDIS’ role in facilitating therapies for rare diseases

Virginie Hivert, Acting CEO and Head of Therapies and Access at EURORDIS

10:15 – 10:45
Panel discussion: Creating a Union of Opportunity for rare diseases therapy development

Speakers:

  • Carmen Laplaza Santos, Head of Unit Health Innovations and Ecosystems, DG Research & Innovation
  • Stella Kyriakides, former EC Health Commissioner
  • Dr. Milena Angelova, Member at the European Economic and Social Committee; rapporteur of the opinion
  • Francois Lamy, Vice President of AFM Telethon France
  • Virginie Hivert, Acting CEO and Head of Therapies and Access at EURORDIS

 

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

10:45- 11:15
Coffee Break

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

11:15- 11:30
Topic: Funding and patient advocacy organisations spearheading the effort against rare disease

Francois Lamy, Vice President of AFM Telethon France

11:30- 11:45
Topic: TA European inventory of rare diseases through the scope of ERNs

Donata Meroni, European Commission DG Sante

11:45- 12:00
Topic: The current state of affairs for developing rational therapies for rare diseases

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

12:00 – 12:15
ERDERA research initiatives for therapy development in rare diseases

Dr. Daria Julkowska, Scientific coordinator of ERDERA

12:15 – 12:30
Topic TBC

Dr. Violetta Anastasiadou, Chair of Cyprus National Committee for Rare Diseases

12:30- 13:15
Panel discussion: Creating incentives and overcoming bottlenecks in rare drug development

Speakers:

  • Tim Leest, Chair of EMA Committee for Orphan Medicinal Products
  • Donata Meroni, European Commission DG Sante
  • Dr. Holm Graessner, Lancet Commissioner on Rare Diseases and ERN-RND coordinator
  • Dr. Daria Julkowska, Scientific coordinator of ERDERA
  • Dr. Violetta Anastasiadou, Chair of Cyprus National Committee for Rare Diseases
  • Kaja Kantorska, Policy officer, DG SANTE

 

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

13:15-14:15
Lunch break

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

14:15- 14:30
Topic: Building on knowledge and lessons learnt: developing Nusinersen for SMA

Dr. Priya Singhal, Head of Development, Biogen

14:30 – 14:45
Topic: Developing virally-delivered genetic therapies for inherited neuromuscular disorders

Dr. Kleopas Kleopa, Senior Neurologist, Head of the Neurosciences Department, The Cyprus Institute of Neurology & Genetics

14:45- 15:00
Topic: A Journey to Developing Curative Therapies for Hemoglobinopathies using Genome Editing

Dr. Matthew H. Porteus, Stanford University School of Medicine, Stanford, USA

15:00 – 15:15
Developing therapies for rare paediatric endocrine disorders

Dr. Nicolas Nicolaides, University of Cyprus

15:15-15:30
Break
15:30-15:45
TBC
15:45-16:00
Topic: The role of artificial intelligence in drug discovery and repurposing

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

16:00-16:10
Innovative platform-based approach for sustainable repurposing of medicines for rare diseases

Harald Schmidt, Coordinator of REPO4EU

16:10-16:20
Topic: Innovative platform-based approach for sustainable repurposing of medicines for rare diseases

Anton Ussi, Coordinator of REMEDI4All

16:20-16:30
Topic: A clinical model for interdisciplinary sharing of knowledge and innovation for the development of rare diseases therapies

Prof. Birute Tumiene, Assoc Prof. at Vilnius University, Faculty of Medicine (online)

16:30-17:30
Panel discussion: Synergies in academia and industry to accelerate drug development

Speakers:

  • Dr. Priya Singhal, Head of Development, Biogen
  • Dr. Kleopas Kleopa, Senior Neurologist, Head of the Neurosciences Department, The Cyprus Institute of Neurology & Genetics
  • Dr. Matthew H. Porteus, Stanford University School of Medicine, Stanford, USA
  • Dr. Nicolas Nicolaides, University of Cyprus
  • Demetris Skourides, Cyprus Chief Scientist for Research, Innovation and Technology
  • Anton Ussi, Coordinator of REMEDI4All

 

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

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- 09:00
Topic: Building an ecosystem for rare disease trial readiness

Maurizio Scarpa, Coordinator of MetabERN

09:00- 09:15
Topic: The European Platform on rare disease registration: Connecting data, accelerating care pathways and enabling research

Dr. Andri Papadopoulou, Scientific Officer, Joint Research Centre, European Commission

09:15 – 09:30
Amplifying patient and public involvement in small rare diseases ecosystems

Mr. Spyros Polyviou, Director of the Cyprus Alliance for Rare Disorders

09:30- 09:45
Topic: National Biobanks for Population and Rare Disease Research

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

09:45 – 10:00
Considerations in the development of sensitive outcome measures needed to track the natural history of rare diseases

Dr. Luca Sangiorgi Director Rare Bone Disorders Dept. and Coordinator Rare Bone Diseases Centre Istituto Ortopedico Rizzoli, Coordinator of ERN-BOND

10:00- 10:15
Topic: Clinical trials from the patients’ perspective

Allan Fred Byamukama

10:15- 11:00
Panel discussion: Stakeholders working together for clinical trial preparation

Speakers:

  • Dr. Helene Le Borgne, Policy Officer, DG Research and Innovation
  • Dr. Maurizio Scarpa, Coordinator of MetabERN
  • Dr. Andri Papadopoulou, Scientific Officer, Joint Research Centre
  • Charalambos Papadopoulos, President of the Cyprus Alliance for Rare Disorders
  • Dr. Giedrė Kvedaravičienė, Director of the Lithuanian Population and Rare Diseases Biobank
  • Dr. Luca Sangiorgi Director Rare Bone Disorders Dept. and Coordinator Rare Bone Diseases Centre Istituto Ortopedico Rizzoli, Coordinator of ERN-BOND
  • Allan Fred Byamukama
  • Prof. Alexis Arzimanoglou, Coordinator of ERN EpiCARE

 

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

11:00-11:30
Coffee Break

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

11:30- 11:45
Topic: Infrastructure considerations for delivering therapies at scale: France’s example

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

11:45 – 12:00
Topic: Capacity building and interdisciplinary training for delivering novel therapies in secondary care comprehensive healthcare facilities

Prof. Nikolaos Zamboglou, German Medical Institute, Limassol

12:00- 12:15
Topic: Health Technology Assessment and Innovative Payment Models for therapies for rare diseases

Dr. Christine Leopold, Pharmaceutical system and policy researcher, 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 of Muscular Dystrophy Association, Cyprus

12:30- 13:15
Panel discussion: Rare disease therapy delivery in the healthcare system: paths to sustainability

Speakers:

  • Dr. Anne-Sophie Lapointe, French representative in ERN Board of Member States
  • Prof. Nikolaos Zamboglou, German Medical Institute, Limassol
  • Dr. Christine Leopold, Pharmaceutical system and policy researcher, Utrecht Center for Pharmaceutical Policy and Regulation / WHO Collaborating Center
  • Panikos Voskos, President of Muscular Dystrophy Association, Cyprus
  • Marina Vasiliou, President and Managing Director, Biogen

 

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

 

13:15-13:30
Closing Lecture

The role of CING in caring for patients with rare diseases: clinical excellence and research innovation

Prof. Leonidas A. Phylactou, CEO & Medical Director of The Cyprus Institute of Neurology & Genetics

13:30 – 14:30
Lunch Break
14:30–17:15
Tour at the premises of The Cyprus Institute of Neurology & Genetics
17:15–20:00
Farewell networking party

The Cyprus Institute of Neurology & Genetics