On Rare Disease Day - 2010, worldwide attention was focused on the cause of rare diseases, which affect nearly 1 out of 10 Americans and countless others around the world. The Center for Rare and Neglected Diseases joined the National Organization of Rare Diseases (NORD) and hundreds of patient groups and associations, foundations, hospitals, research centers, universities and schools on February 28th to honor this day and its message.

Students from Fall and Spring BIOS60570/1 and faculty for the Center for Rare and Neglected Diseases ( CRND) met for brunch at Sorin's to share their experiences in the class for Developing Health Networks in Rare and Neglected Diseases. Students from the Fall 2009 class discussed their work with the NP-C service research project, which the Spring class will be engaging in coming weeks. This project allows students to build upon the work of the previous semester in the kind of ongoing effort, which characterizes scientific discovery.

The effectiveness of this course in generating useful data was demonstrated by Dr. F.D. Porter's successful application to The National Niemann Pick Disease Foundation (NNPDF) for support of the NPC Natural History Study Extension. The Report of the NNPDF Research Committee – December 2009 informs us: "The Board has approved a Request for Assistance with Research (RFA) from Dr Porter. He has asked the NNPDF to assist in contacting NPC families to request access to NPC patients' medical records. These additional medical records will be analyzed by students at the University of Notre Dame, under the direction of Dr Kasturi Haldar, to further characterize disease progression in individuals with NPC."

 

Why is Rare Disease Day Important?

 

* Because we constantly need to raise awareness on rare diseases among decisions makers, health professionals and the general public. Information is key to improving living conditions for rare disease patients.

 

Nina Farivari (Fall 2009 class) gave the keynote address.

 

* Because acting simultaneously in many places and in many countries can ensure the voice of rare disease patients is heard by more people.

 

* Because a day focused on rare diseases can bring hope and information to people living with rare diseases, their careers and their families.

* Because we want equity in access to care and treatment for rare disease patients.

* Because we need an action that can bring all stakeholders of the rare disease community together with the same goal.

* Because we need more funds for research and care, and more research and efforts directed towards rare diseases.

* Because we need to keep fighting for rare disease patients…

* Because we need to coordinate policy actions at national and international levels

(Photos: Will Wall, 2010)

 

For more information on Rare Diseases Day events & partners, visit The National Organization of Rare Diseases ( NORD)