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.

The event is fully booked for in-person participation. You can join the waitlist or sign up to attend online using the link 'Sign up'.

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 Disease Innovation Begins with Diagnosis: Gene Discovery, Genomic Medicine and the Power of Data Sharing

• Speaker: Heidi L. Rehm, Chief Genomics Officer, Massachusetts General Hospital, Co-Director of Medical and Population Genetics, Broad Institute in Boston and Professor of Pathology, Harvard Medical School.

Rare Disease Epidemiology & Genetics: From Incidence to Inheritance

• Speaker: Elsebet Østergaard, Consultant and Clinical Professor of Clinical Genetics, Rigshospitalet, Diagnostic Center and the Department of Clinical Medicine, University of Copenhagen

Approving Therapies for Rare Diseases: Orphan Routes, Evidence Thresholds, and Real-World Data

• Speaker: Jannick Brennum, Deputy Chief Executive and Centre Director, Center for Cancer and Organ Diseases, Rigshospitalet and Vice-chair, Danish Medicines Council

Audience Q&A

Break, networking & food

Case 1: Clinical Development in Rare Diseases: Lessons from an Antibody Program Targeting the Hypothalamic-Pituitary-Adrenal Axis

• Speaker: Marie Louise Binderup, Clinical Pharmacology Senior Specialist, Clinical Pharmacology, H. Lundbeck A/S

Case 2: Unlocking the Potential of Skeletal Muscle Function in Rare Neuromuscular Diseases through a CIC-1 Inhibitor Modality

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

Case 3: Lynch Syndrome: From Genetics to Prevention and Immunotherapy

• Speaker: Christina Therkildsen, Research Group Leader, Colorectal Cancer Research Unit, Gastrointestinal Unit, University of Copenhagen, Hospital Hvidovre

Panel discussion & questions from the audience

Thank you for joining us

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