Rare Disease Day 2020

This February BDSRA will again be joining rare disease organizations around the world to celebrate Rare Disease Day. 

The first Rare Disease Day was celebrated in 2008 on 29 February, a 'rare' date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February, a month known for having a 'rare' number of days.  The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

The campaign targets primarily the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and anyone who has a genuine interest in rare diseases.

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some poin t in their life. Despite this, there is no cure for the majority of rare diseases and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.

Learn More About Rare Disease Day Here

Be sure to follow BDSRA on Facebook and Instagram to like and share our Rare Disease Day posts. 

Thank You to Our Outing Board Members!

Thank you to outgoing BDSRA Board Members Rob Geer, Jennifer Dilley and Chad Killen for your service to the Batten disease families  and community.  Your commitment, dedication and passion is greatly appreciated!

Rob and Jacob Geer

Being involved with the BDSRA board has been a roller coaster over the past nine years.  It has been one of the most challenging, rewarding, sorrowful and exciting roles I have ever been in.  I have seen us go from a disease with no treatment or cure to a disease with an FDA approved treatment that has improved the lives of so many children and so many clinical trials in the works, with so much hope on the horizon.  I have participated in two Executive Director searches and seen several evolutions and improvements of the organization.  I have attended more funerals for children of family friends than any person should ever have to do.  I have had the opportunity to travel the country and the world to meet incredible families and researchers dedicated to ending this disease. 

I am excited to watch the next phase in the organization and so thankful for the staff and board members I have met and worked with over the last nine years.  I am especially thankful to my wife, Chris, who supported myself and our family as I attended the various meetings and conferences and made it possible for me to contribute my time to the BDSRA.  I look forward to our future "family reunions" at the annual conferences and continuing to see all the friends I have made along the way.       #lovehopecure

Chad, Kim and Charlee Killen

The past years serving on the board has been an privilege and honor.  To be able to give back to the organization that has been so valuable to myself and my family is truly a blessing. The families and children in this organization have and will always be the foundation of the BDSRA.  I am grateful to have made many long lasting friendships through the years and know those friends are friends for life.  This organization has always given me hope when I thought that hope was gone.  I love you all.

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American Epilepsy Society (AES) Annual Meeting

On behalf of all the families, friends, researchers and medical staff, we thank you for your generosity and consideration. We look forward to 2020 being our best year yet; and will continue to share with you the good work that we were able to accomplish because of your gifts. Thank you all. 

Each year, BDSRA invites proposals from over 200 scientists working in the field to fund the most promising basic and translational (moving to clinical trial) research. Each proposal is peer-reviewed by experts in lysosomal diseases at universities, children's hospitals and in the pharmaceutical industry to provide well-rounded reviews.

We are honored to partner with the following organizations who funded this year's awardees: Drew's Hope, ForeBatten, Haley's Heroes Foundation, and Noah's Hope/Hope 4 Bridget.

Dr. Heather Adams from the University of Rochester Medical Center is working in all forms of Batten on a project entitled Characterizing sleep dysfunction in children with NCL disorders.

Dr. Elena Batrakova  from the University of North Carolina at Chapel Hill is working in CLN2 on a project entitled  Novel Nanoformulation of TPP1 for Treatment of LINCL Batten Disease CLN2 .

Dr. Thomas M Wishart from the Roslin Institute, University of Edinburgh is working in CLN1 and CLN5 on a project entitled Using ovine models of CLN1 and CLN5 disease to identify molecular biomarkers of disease and therapeutic efficacy.

Dr. Milen Velinov from the New York State Institute for Basic Research in Developmental Disabilities, is working in CLN4 of a project entitled Deferiprone iron chelation therapy to alleviate CLN4 pathology in patients with Autosomal Dominant Neuronal Ceroid Lipofuscinosis-Kufs Disease.