May/June 2017                                                                                                                 Volume 28, Issue 4
In This Issue
CLN3 and CLN1 Gene Therapy Program Partners Planning for Success

University of Rochester Batten Center Team members (left to right) Alyssa Thatcher, Erika Augustine, Amy Vierhile, Jonathan Mink and Heather Adams, along with Abeona Therapeutics Inc Michelle Berg and Tim Miller, gathered earlier last week to continue work on pre-clinical programs ABO-201 for CLN3 (#juvenilebatten) and ABO-202 for CLN1 (#infantilebatten).
Abeona Therapeutics Inc ($ABEO)  is honored to work with such an experienced team, wonderful facility and is excited to progress the promising research from Dr. Tammy Kielian and Dr. Steven Gray toward clinical trial.

BDSRA Family
Resource Corner

There is no denying that technology has become a huge part of everyone, including children's lives. There are thousands of games and education tools available to anyone with a smartphone or tablet. However, most of these apps can be difficult or impossible for visually impaired users to navigate. Below we have pulled together some resources for finding those that may work for our Batten kids who have vision impairments.

Donor Gifts
Thank you to the donors the last two months who gave generously to honor and in memory of loved ones and our community as a whole. We want to acknowledge for your contributions, they allow us to keep serving families and advancing the science of a meaningful treatment. This year we celebrate 30 years! Your dollars and support have helped create a leading organization in the Batten Disease community and we are dedicated to continue the legacy of children and families.   
In Loving Memory
BioMarin CLN2 Enzyme Replacement Therapy Wins FDA and EU Regulatory Approval

Mia Diaz, one of the original trial participants

The Batten community achieved a major milestone this spring when the first treatment for the CLN2 form of Batten disease received commercial approval by US and European regulators.  Based on the many years of basic science developed by  Peter Lobel and David Sleat at Rutgers University, the therapy will be available here and in Europe with other sites around the world opening as negotiations move forward with hospitals and payers. 

We are indebted to the  VanHoutan family, whose son  Noah passed away of CLN2, for keeping the flame of this treatment alive for so many years.  Noah's Hope/Hope4Bridget were strong financial supporters and co-funders with BDSRA in the initial stages of development.

Inspiring Action: 
Everything Matters

Maya James

Our conversation begins with four friends regaling me with stories of how they met, how a friendship that began in a dorm room with Smells like Teen Spirit playing on the radio, grew into a lifelong connection and a very meaningful support system.
It's not hard to see why anyone who
 meets Maya James is captivated by her. She is easy to adore, with her infectious laughter, quick wit and an old soul quality that makes her a powerful presence in the room. 

That's just what happened when Beau James' college pal, Scott Friedman, introduced his partner Ivana Polonjio to Beau & Suzette's daughter Maya through a series of photos he had taken. Struck by her glow and stories of her tenacity an instant connection between the two families was made. 

Quick Links
Meet Our Researchers
Sue Cotman, PhD 
and  Cotman Lab

This month we are excited to highlight the work being done by Sue Cotman PhD and Cotman Lab!

Dr. Cotman, what is your current position?
Assistant Professor of Neurology, Massachusetts General Hospital, Harvard Medical School

How did you get involved with Batten Disease research?
My PhD thesis research project involved investigation of a potentially important player in the development of Alzheimer's disease. Through this work, I developed a passion for understanding how the brain works and drives human behavior and for solving diseases of the brain. Therefore, after earning my
PhD, I set out to further pursue a research career in brain disease, joining the laboratory of Dr. Marcy MacDonald at Massachusetts General Hospital and Harvard Medical School. Dr. MacDonald had been working with Dr. Terry Lerner for several years, to identify the Batten disease related CLN3 and CLN6 genes. 

BDSRA Family Conference 
The 2017 family conference is less than a month away and we are looking forward to seeing everyone in Pittsburgh next month.  

We are excited to announce Merril Hoge as this year's guest speaker.  He is not only a respected former NFL athlete and current host and analyst at ESPN, he is a cancer-survivor and a dedicated dad with a vision to help other children cope with grief and understand their own worth. 

In celebration of our 30th anniversary, we are building a BDSRA timeline! We have some pictures and stories that we have collected over the years but we would love for people to bring copies of pictures and short stories/memories with dates to add!  Fill out this form and bring it with you to Pittsburgh, along with any photos you would like to share. 

Click here to view the updated agenda and here for conference FAQ.


Batten Disease Support and Research Association | (614) 973-6013 | |
1175 Dublin Road
Columbus, OH 43215