Jasmin Barman-Aksözen

Rare Disease Action Forum
Multistakeholder Meeting
Basel, October 2018

Guest speakers:

Ivo Hutzli, Swiss Society for Cystic Fibrosis, Co-President
Vinciane Pirard, Sanofi Genzyme, Senior Director Public Affairs; Co-Chair Joint Task Force on Orphan Drugs & Rare Diseases of EFPIA – EuropaBio
Dr. Anna Bucsics, Mechanism of coordinated Access to Orphan Medicinal Products (MoCA), project advisor
Dr. Wolfgang Schnitzel, Shire, General Manager Austria; Chair Pharmig working group rare diseases
Johannes Morche, The Federal Joint Committee (G-BA) Germany, Fachberatung Medizin
Dr. Alexander Natz, European Confederation of Pharmaceutical Entrepreneurs (EUCOPE), Secretary General
Dr. Jasmin Barman-Aksözen, International Porphyria Patient Network (IPPN), Vice-President
Dr. Thierry Marquet, Shire, Head of Value Demonstration & Access France & Benelux

The purpose of RDAF is to serve as a platform to exchange ideas and define actions to raise awareness of rare diseases and to improve access to treatment and patient care in Switzerland.

Keystone Symposium
November 2018

From Rare to Care: Discovery, Modeling and Translation of Rare Diseases (S4)
Organizer(s) Josef M. Penninger and Kym Boycott
November 11—14, 2018
Vienna BioCenter, IMP Lecture Hall • Vienna, Austria

Summary of Meeting:
Work over the past 30 years has resulted in the identification of genes for ~50% of the estimated 7,000 rare genetic diseases; it is predicted that most of the remaining disease genes will be identified in the next 10 years. Approximately 500 medicinal products are currently on the market for rare diseases. The accelerating pace of rare disease gene identification means, in effect, an almost commensurate increase in molecularly defined, readily diagnosable, but nonetheless poorly understood and untreatable diseases. This conference will examine the current and future bottlenecks to gene discovery, disease modeling and therapeutic approaches and suggest strategies to enable progress in this regard. Ultimately, successful deployment of precision medicine for rare diseases will inform such approaches more broadly.

1. Platz beim Science Slam in der Stadtbibliothek Köln
Köln, März 2016

Talkshow
Köln, 2013

Zu Gast sind u.a.:

André Rieu, Musiker
Guido Cantz, Comedian und Moderator
Marie-Luise Marjan, Schauspielerin
Jasmin Barman

Sonnenlicht muss die studierte Molekularbiologin strikt meiden: Jasmin Barmann leidet an einer seltenen Krankheit. Wegen eines Gendefekts verträgt ihre Haut keine Sonneneinstrahlung, sie verursacht Kribbeln und Rötungen, kurz darauf starke Schmerzen und im schlimmsten Fall Verbrennungen. Schon als Baby litt Jasmin Barman an der sogenannten Erythropoetischen Protoporphyrie, aber erst im Erwachsenenalter stand die Diagnose fest. Im Kölner Treff berichtet Jasmin Barman von der Krankheit und wie sie gelernt hat, mit ihr zu leben.