November 2016                                                                                                                 Volume 27, Issue 9
In This Issue

Six amazing Batten siblings have registered to run the Disney Princess ½ marathon or 10k at Walt Disney World on February 25th and 26th, 2017. They are Megan Chandler, Addie Heuchan, Kody Maynard, Mike McDonough, Jeni Montavon and Sara Thompson. Each of them has had a sibling that has been diagnosed with Batten Disease. Batten Disease is a rare, fatal, neurological disease affecting children of various ages. Currently there is no treatment or cure and it is always fatal.

You can do a virtual run with the group to show your support. You can also purchase a Princess Run t-shirt. T-shirt orders must be received by January 14th to ensure delivery prior to the race. See the T-shirt design on the team members individual pages.

If you have bracelets in honor or memory of your child, please send one to the BDSRA at 1175 Dublin Road, Columbus, OH 43215 and they will be worn by the runners on race day. Bracelets must be at the office by February 15, 2017.

The money raised by this event will go towards research for the various forms of Batten Disease.

Together this group runs in honor or in memory of their siblings. They run for hope. They run for a cure.

Click here to register

Dr. Tammy Keilian Named Science Laureate
Tammy Kielian, Ph.D., professor in the UNMC Department of Pathology and Microbiology, has been named the 11th UNMC Scientist Laureate.

The award is the highest honor UNMC bestows to researchers.

Dr. Kielian was honored along with 21 other researchers recently named UNMC Distinguished Scientist, New Investigator and Research Leadership award winners for 2016.

"Tammy Kielian is a 'spark,'" said Vice Chancellor for Research Jennifer Larsen, M.D. "She is passionate about research and collaborates with many around multiple research interests, including developing new technologies."

"Tammy is an exceptional individual because of her unique skills in multiple areas including immunology, infectious diseases neurology and genetic disorders," said Steve Hinrichs, M.D., chair of pathology and microbiology. "She is able to take essential elements from each subdiscipline and apply them to both basic science and clinical therapies."

"As this year's UNMC Scientist Laureate, Dr. Kielian joins an impressive list of internationally recognized UNMC faculty who are major contributors to their fields of research," said Brad Britigan, M.D., dean of the UNMC College of Medicine. "Dr. Kielian's novel approaches to understand the pathogenesis of staphylococcal infections of prosthetic devices provides hope for addressing an all too common infection that has a major impact on lives throughout the world.

"Furthermore, Dr. Kielian's ability to simultaneously develop a highly productive and visionary research program to explain and develop a potential therapy for the rare hereditary disease, juvenile Batten disease, that impacted a member of her immediate family, is a testament to her creativity and commitment as an investigator," he said. "She is very deserving of this recognition by the UNMC research community."

In Loving Memory
Abeona Therapeutics Moves Forward with CLN 1 and CLN3 Gene Therapy

Abeona is eager to continue it's commitment to the Batten community as they focus on bringing the potential CLN3 gene therapy, developed by Tammy Kielian, Ph.D. and her team at the University of Nebraska Medical Center, into clinical trial. Their aim remains to initiate enrollment at the University of Rochester during the latter half of 2017 and the team is working diligently to complete the numerous and critical steps to be able to do so. As they progress, they will surely seek insight from families that have had or have children impacted by CLN3 to better understand how to best serve participants in clinical trial and other important considerations.
Abeona is further pleased to extend our gene therapy programs for Batten disease to include CLN1 through a recently announced collaboration with Steven J. Gray, Ph.D. and his team from the University of North Carolina Chapel Hill. In pre-clinical gene therapy studies that deliver a functioning copy of the CLN1 gene to cells in the central nervous system of INCL mice, Gray's team demonstrated extended survival and preservation of strength. The pre-clinical work was supported by Batten Disease Support and Research Association along with Saoirse Foundation, Taylor's Tale, and Hayden's Batten Disease Foundation.
As 2016 draws to a close, there is certainly much to look forward to in 2017 and beyond. Abeona is looking forward to providing information and updates along the way and hearing more from the community.

BDSRA Family
Resource Corner
The Patient Advocate Foundation (PAF) provides professional case management services to Americans with chronic, life threatening and debilitating illnesses. PAF case managers serve as active liaisons between the patient and their insurer, employer and/or creditors to resolve insurance, job retention and/or debt crisis matters as they relate to their diagnosis also assisted by doctors and healthcare attorneys. The PAF website is also filled with resources on many topics including Healthcare Reform and Insurance, publications on common insurance questions, a glossary of "Words that Matter", searchable directories of organizations to help with various types of assistance, and resources for Spanish speakers. 

See all links here

Child Nerurological Society 

Tracy Kirby and Margie Frazier
Next to the Olympic Flame in Vancouver, British Columbia, the Child  Neurology Society met in late October.  BDSRA staff was on hand to exhibit, answer questions, and attend sessions on the latest findings in treatment of children with neurological diseases.  

Batten clinicians were out in force, providing training and consultation.  Dr. Emily de los Reyes from Nationwide Children's Hospital and Dr. Erika Augustine from the University of Rochester spoke with Dr. Raman Sankar, Geffen School of Medicine at UCLA about the need for earlier diagnosis of CLN2 Batten disease in particular, but all forms of Batten as well.   

Dr. Jon Mink of University of Rochester was made President-elect of the Child Neurology Society.  We are very excited for him and for his leadership of the CNS beginning late next year.  Kansas City welcomes CNS in 2017.

For more information please visit
Quick Links
Researcher Q & A

This summer Jon Cooper and his family moved from England to Southern California, and we asked him some questions for our Researcher Q & A

How long have you been studying Batten disease? 
I've been studying Batten disease since shortly after I became a Dad, so that's now over 20 years. At that point studying children's diseases became much more relevant and I was lucky to be asked to work on a Batten disease project at UCSF. I then met my first Batten's family, the Aurelio's from San Jose and their daughter Natalie, and talking with them convinced me this was what I should work on. To remind and inspire me, I still keep a picture of Natalie by my computer.
      You're known as 'the pathologist'....what does that mean for Batten research and is this
A typical pathologist will look at sections of the brain (or any other tissue) and try to figure out what has gone wrong. That's partly what we do, and we have found out really important things like which bits of the brain and which types of cells have particular problems in Batten disease. But we don't just work with brain sections, as we also grow cells in a dish, and find out how the interactions between these cells contributes to disease. There aren't many pathologists around these days, so we are asked to work with many different people and help them with their research too. We look at the brains (and now the rest of the body) in Batten disease mice, dogs, sheep and even pigs, as well as looking at human brains.  I'm really a neurobiologist who has ended up doing a lot of pathology as a means to an end. This is to understand these diseases better, so that we can devise better therapies, deliver them to the right place at the right time and can tell if they have worked. 
Tell us about your move to UCLA.  What new adventures 
are ahead there? 
The move to the Harbor-UCLA Medical Center is very exciting for many reasons. There is a long history of working on similar lysosomal diseases at LABioMed, so I have colleagues who understand the work we are doing, and have recruited me here on the strength of what I do. I no longer have any teaching commitments, or a very large graduate student program to run, something that was taking up over half my time in London. The aim of moving here is to free me up to be able do my Battens research faster. I've always worked very closely with other researchers in the US and that will also be much easier from now on. The lab in London has kept on working while I'm here getting the new lab set up. Several of them will be coming here soon, so we will be very much continuing with our Battens work, just with added palm trees...
How are you adjusting to southern California?  What's your sunscreen bill?  And are there 
UK meals you miss?
  Living where we are we, can find most things, except perhaps traditional fish and chips. There's even a shop near us that sells Heinz Baked Beans, which the boys had really missed. When we lived in California in the '90s it was much harder to find good beer and non-plastic cheese, but the first of these has greatly improved, especially here in the South Bay. Skype has also made it much easier to keep in touch with friends and family in the UK, and cable means it's also much easier to watch English football. Happily, I can now also watch baseball without having to get up in the middle of the night! After London it takes some getting used to having MUCH better weather most of the year, and having to use sunscreen in November and December is a very big change! Most importantly the family have all settled in really well, and are really enjoying the Southern California lifestyle, but they show no sign of developing American accents (yet)...

Donor Gifts
The Batten Disease Support and Research Association has been remembered many times in the past month by families and friends affected by Batten disease.  
Batten Disease Support and Research Association | (614) 973-6013 | |
1175 Dublin Road
Columbus, OH 43215