From genes to medicines – rare disease innovation in practice

Rare diseases in focus

From advanced therapy medicinal products and pharmacological treatments to new clinical trial designs, rare diseases help accelerate drug discovery and turn science into real-world solutions.

At this spring’s Life Science Talks, we bring leading specialists together to show how insights from rare diseases can inspire and advance research and development far beyond this specific field.

The event takes place 5th of May from 4-7.30 pm at Scandic Copenhagen. You can join us on-site or online.

Participation is free – for both Pharmadanmark members and other interested guests. We provide food, snacks, and drinks. The event will be held in English.

Both members and non-members must register via this link:

What you will learn

You will get up-to-date insight into genetics, epidemiology and the latest treatment breakthroughs within rare disease, including advanced therapy medicinal products (ATMPs).

Many rare diseases are caused by genetic defects. This makes the field a natural testbed for cutting-edge technologies such as ATMPs. Based on cells, genes or tissue, these therapies aim to repair or replace disease-causing functions and can, in some cases, offer long-term or lifelong treatment for patients with serious, often incurable conditions.

The programme also sheds light on the patient’s perspective, showing how genetic factors influence the course of life and the long-term disease burden.

Through real cases and examples, we explore how rare diseases can function as a laboratory for new technologies, innovative study designs and new ways of conducting clinical trials, with the potential to benefit many more patients.

You may discover new opportunities in your own work and gain inspiration on how mechanisms, technologies and regulatory trends from rare disease research can be transferred to other therapeutic areas.

Programme

4 pm: Registration, networking & snacks

4.30 pm: Welcome & introduction: Rare diseases as a translational innovation platform - how rare diseases impact on development of new technologies and acceleration of new drug discovery

• Speaker: TBA

Rare disease epidemiology & genetics: from incidence to inheritance (plenary talk)

• Speaker: Clinical Professor Elsebet Østergaard, Rigshospitalet and Faculty of Health and Medical Sciences, University of Copenhagen

Approving therapies for rare diseases: orphan routes, evidence thresholds, and real-world data (plenary talk)

• Speaker: Dr. Birgitte Klindt Poulsen, Chief Physician, Clinical Pharmacology Unit, Aalborg University Hospital

Audience Q&A

Break, networking & food

Case 1: Lynch syndrome: from genetics to prevention and immunotherapy

• Speaker: PhD Christina Therkildsen, Research Group Leader; Danish HNPCC Register, Hvidovre Hospital

Case 2: Unlocking the potential of skeletal muscle function in rare neuromuscular diseases through a CIC-1 inhibitor modality

• Speaker: Chief Operating Officer Thomas Kongstad Petersen, NMD Pharma

Panel discussion & questions from the audience

Thank you for joining us

NB: We reserve the right to make minor changes to the programme.