Sharon Terry at TedMed 2016

Sharon Terry is a mother of 2 children who have a rare disease known as pseudoxanthoma elasticum (PXE). Watch her inspirational speech where she discusses how she and her husband worked to establish mandates that require researchers to share biological samples and work together. Beyond Batten Disease Foundation has followed that model since its inception.

mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases

BBDF is very proud of the research we have funded over the last 8 years.  We are especially honored to have worked with Drs. Marco Sardiello, Michela  Palmieri and their colleagues at Baylor College of Medicine and the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children’s Hospital.  These researchers are devoted to helping patients with Batten disease and are vital partners in our efforts.  We are delighted that their work was published in Nature Communications this week.  Nature Communications is ranked in the top .04% of 28,000 subject journals. Read  the article:

The paper is important to the understanding of how healthy cells manage waste disposal, but also because it proves an important concept for treating juvenile Batten disease in mouse models, propelling us forward down the drug discovery pipeline.  Today, BBDF is building on this discovery by working on industrial validation and dosing studies with Evotec, a drug discovery alliance and partnership company, to quickly advance Dr. Sardiello’s findings through the regulatory process, and ultimately to clinical trials.

Dr. Sardiello and his team have made a significant discovery and taken a giant step toward our collective goal to treat Batten disease.  We are grateful to him and his team for their dedication and perseverance.  In response to congratulatory emails, Marco had this message for BBDF donors, “We are proud to be working with you! This could only happen because of your continuous support.  More news coming in the next few months… stay tuned!”

To read more:

Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital press release:

Baylor’s press release:

Taylor’s Law: North Carolina’s rare disease advisory council

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Taylor King, 17, and her mother Sharon.

On July 29, 2015, house bill 823, An Act Establishing the Advisory Council on Rare Diseases within the School of Medicine at UNC Chapel Hill, was ratified by the North Carolina General Assembly. The Governor signed this legislation on August 5, 2015.  The legislation received bi-partisan support and passed unanimously through the NC House and Senate. Now, a year later,Gov. Pat McCrory following a unanimous vote by the N.C. legislature has renamed the legislation Taylor’s Law in honor of Taylor King, 17, who suffers from infantile Batten disease. To read the article click HERE.

Taylor’s Tale, a 501c3 nonprofit organization, was founded in 2007 by family and friends of Taylor King of Charlotte, North Carolina, who was diagnosed with infantile Batten disease in 2006 at age 7. Since then the organization has been a leader in rare disease advocacy efforts.

Taylor’s Tale President Sharon King was the catalyst for this bill, which was championed by N C. Representative Becky Carney (D-Mecklenburg). Sharon first presented the idea to state legislators at a breakfast sponsored by Taylor’s Tale in late March 2015. After the bill was filed on April 14, it sailed through the House and Senate in just over three months, passing unanimously at each stage. House Bill 823 established an advisory council on rare diseases within the School of Medicine of the University of North Carolina at Chapel Hill.

This council will act as advisors on research, diagnosis, treatment and education relating to rare diseases. Appointed members will include:

  • A physician with experience researching, diagnosing or treating rare diseases
  • A medical researcher with rare disease research experience
  • A registered nurse or advanced practice registered nurse with experience treating rare diseases
  • One rare disease survivor
  • One rare disease foundation representative
  • One representative from each academic research institution in North Carolina that receives any grant funding for any rare disease research


Dr. Tammy Kielian: Finding a Cure for Her Niece

Please view this video describing Dr. Tammy Kielian’s work at the University of Nebraska. Dr. Kielian is spearheading a program to treat children with juvenile Batten disease, like her niece Olivia, with two different and potentially beneficial medications. Just like BBDF-funded investigators at Texas Children’s Hospital, Dr. Kielian is working as quickly as possible to bring her ideas to the Federal Drug Administration (FDA) for approval to conduct a clinical trial.

View video here.

Is there a connection between dementia and diet?

A recent conference held at the New York Academy of Science asked a downright outrageous question: Can dementia be prevented by making changes to your diet? In this podcast we look at what the answers might be.

Podcast listeners learned a lot over the past two months about neurodegenerative dementia – what it is, what it isn’t, and how heartbreakingly little medical science can do right now to treat it. In that context, a recent conference held at the Academy asked a downright outrageous question: Can dementia be prevented by making changes to your diet? In this podcast, we hear answers to that question, some of which are surprisingly optimistic.

Listen to the podcast here.

BBDF Attends Batten Registry Conference in Germany

IMG_0672Mary Beth Kiser, BBDF President & CEO, is currently in Germany, attending a patient registry meeting aimed at coordinating and collaborating a comprehensive Batten disease registry.The meeting includes Batten clinicians and researchers from Germany, France, Japan, Finland, Turkey, Serbia, United States, United Kingdom, Netherlands, Spain, Italy and Poland. Registries are important for patient care, clinical trials, and to suggest research areas based on natural history information.

Batten Disease Researcher Published in Cell Reports

Venkatachalam and Wong

Dr. Venkatachalam and Dr. Wong

Lysosomes have traditionally been thought of as the cell’s trash cans. However, recent evidence suggest that a more appropriate analogy for lysosomes would be arecycling plants – proteins degraded in lysosomes are broken down into components that can be used for other purposes. Recycling of superfluous or toxic material allows cells to remain efficient and ensure normal function during cellular stress. A recent study by the laboratory of Dr. Kartik Venkatachalam and colleagues at the University of Texas Health Sciences Center in Houston, Texas, shows a loss of lysosomal function in fly and mouse models of juvenile Batten and Mucolipidosis type IV, another lysosomal storage disease with similarities to Batten.  Consequently, neurons (brain cells) in these animal models suffered a scarcity of components generated via lysosomal protein degradation (recycling) and diminished activation of critical cellular pathways responsible for brain function and prevention of neuronal loss. Remarkably, the authors have found that administration of a high-protein diet along with a drug currently in phase II clinical trials for treating cancer significantly inhibited neuronal dysfunction in animal models. These findings suggest that this or a similar pharmacotherapeutic strategy could inhibit neurodegeneration in children with juvenile Batten and other lysosomal storage diseases. Read the Cell Reports article.