Mrs. Eva Luise Koehler and Dr. Horst Koehler On Building International Rare Disease Alliances

September 30, 2011 - Mrs. Eva Luise Koehler was accompanied by her husband, Dr. Horst Koehler as she met with students and faculty of the Center for Rare and Neglected Diseases. Since 2005, the former First Lady of the Federal Republic of Germany has been a Patroness of the German Alliance for Rare Diseases (ACHSE). It was as a dedicated advocate for rare disease patients and families that Mrs. Koehler addressed the CRND.

Mrs. Koehler's understanding as a former special needs teacher and her gift of compassionate listening were very much in evidence as she spoke softly to the students and faculty assembled in the Jordan Reading Room. She described with striking detail the overwhelming journey of rare disease families through round after round of doctor visits, searching for an explanation for bewildering symptoms, sometimes bearing the dismissal of helpers who had no frame of reference for their complaints or were themselves saddened at their inability to offer solutions. Mrs. Koehler described the isolation that afflicts rare disease patients and those that care for them. And, she spoke about her work with people and organizations who are building communities and networks to overcome this isolation and these diseases.

In the Q&A that followed, both Mrs. Koehler and her husband, Dr. Koehler, exchanged views with students and faculty on initiatives, which they hoped would strengthen the interaction between US, EU and world organizations to promote orphan and rare disease research and community building.

Dr. Kasturi Haldar (moderator), Marisa Truong (course coordinator) and current CRND students (Michael Clark, Natalie Bott, Aaron Patzwahl, Brianna McSorely, Jennifer Van Trieste, and Wei Lu) discussed their work with NP-C families in data collection for clinical scale development. The students shared how they have been touched by rare disease families in the course of translating these families' expert observations of NP-C into data for research. Father Jim Foster, CSC, MD talked with Mrs. Koehler about the high proportion of Notre Dame students who attend medical school (10%) and the significance of cultivating awareness in these pre-professionals - early sensitization and understanding of the prevalence of rare diseases translates into earlier diagnosis and improved patient care. The Koehlers enjoyed talking with CRND's students and suggested several ideas for disseminating similar models in the EU and US, including an upcoming seminar at Dr. Koehler's alma mater in Germany.

Dr. Marvin Miller responded to Dr. Koehler's inquiry about stimulating the interest of researchers in rare diseases with a pragmatic suggestion focused on the professional societies who are able to incubate experimentation through competitive awards. Dr. Koehler emphasized the importance of publishing the outcomes of competitive awards to spur further innovation. In response to the Koehler's concerns about the silo-ization of research in rare diseases, Dr. Olaf Wiest framed the particular strengths of Notre Dame in promoting productive interdisciplinary collaboration through face-to-face meetings. Dr. Wiest also described his work to identify currently approved therapeutics for common conditions which may target rare disease pathologies - thus, bridging a divide between rare and common diseases. Dr. Crislyn D'Souza-Schorey shared her perspective on the translational benefits of educating students in an environment, which enables participation in high-level experimentation with a teaching faculty that is actively engaged in research. Drs. Nitesh Chawla and Jesus Izaguirre outlined their ideas about the potential for broad interdisciplinary teamwork and expanded data reporting from the patient community in response to the Koehler's affirmation of the value of distributed knowledge. Dr. Edwin Michael contributed to the discussion on incentivising innovation through research-linked entrepreneurial and start-up ventures. Drs. Bilgicer, Schorey, Tamez, and Serianni also joined the conversation with the Koehlers around the broad themes of increasing outreach and building collaborative partnerships.

The CRND thanks the Nanovic Institute for European Studies and the Notre Dame Institute for Advanced Study for inviting its faculty and students to meet with Mrs. Koehler and her husband to discuss rare disease research and international community building. It was an privilege for members of the CRND to meet this distinguished couple whose humanitarian work gives voice and hope to the concerns of tens of millions of people suffering from rare diseases.

(Photo: Will Wall, 2011)

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