Research Projects

Dollars at WORK!

Wobbly Feet Foundation continues to beat national standards by donating 92% of every dollar towards our mission!

With the success of 2016 & 2017’s events we’ve been actively pursuing our mission, contributing $150,000 in 2017 towards scientific research and family grants! Programs funded this year include continued contribution to the A-T Children’s Project important work, the Global A-T Family Data Platform, as well as 3 important new projects: Therapeutic Strategies for Ataxia Telangiectasia Lung Disease, Enabling Drug Screening for Ataxia Telangiectasia and ASO Gene Therapy.

The Data Platform is focused on gathering medical history and DNA samples for genome sequencing of children diagnosed with A-T. The results of this study will give insight into genetic variations that compensate for mutations in the A-T gene, possibility leading toward a formal drug treatment able to reduce the most devastating effect of A-T –  progressive neuro-degeneration. To date,  160 A-T kids and counting, including Connor, have provided DNA samples with results currently being compiled and available in multiple languages, currently 6 countries.

Additionally, we have continued providing grants to A-T families providing payment towards un-insured medical expenses and equipment to improve quality of life, both physically and mentally. Recently we assisted with the extreme out of pocket expense of an all-terrain “tank style” power-chair for Doug, a young man with A-T who loves to explore the woods of the Appalachian Trail near his home with his family and friends. Not only did this help him physically get back out on the trail he loves, safely, having this equipment has improved his socialization and mental state… crucial, especially for our young adults with A-T.

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Funded research projects

On-going since 2015: The A-T Children’s Project launches the Global A-T Family Data Platform and Genome Sequencing Project. A patient driven effort lead by Anthony Philippakis, MD, PhD at the Broad Institute at Harvard and MIT, this platform is compiling clinical and genomic information in order to be shared and be accessed by scientists and researchers worldwide. 

  • 2017 update: Over 199 people with A-T have registered on the platform with 140 children with A-T contributing saliva samples for DNA sequencing. The platform is now available in 6 languages and is approved in 6 countries. Data is being established and will be available for researchers by October 2017

2017/2018. 

Just announced: 2018 brings us new hope as a CURE for A-T is now being tested!

The A-T Children’s Project has partnered with Dr. Timothy Yu to begin ASO Gene Therapy testing this year! The goal is to produce the crucial missing piece in those with A-T, the ATM Protein… STOPPING A-T in its tracks! Upon announcement, we immediately contributed an initial $62,350 towards this ground breaking research!

2017. Therapeutic Strategies for Ataxia Telangiectasia Lung Disease. Primary researcher: Dr. JoAnn M. Sekiguchi, PhD, University of Michigan. Grant period 1/1/2017-12/31/2018. A-T Children’s Project funded with support from Wobbly Feet.

Project description: to determine if anti-inflammatory compounds can reduce lung damage in a mouse model of A-T. About 25 percent of people with A-T develop lung disease. Problems with swallowing and aspiration, as well as weakened immune systems, lead to chronic lung disease. In addition, an inability to repair lung damage, premature aging, oxidative stress, and inflammation may contribute to the development of lung disease in A-T.

Dr. Sekiguchi and her laboratory will aim to learn if a certain type of immune cell, called a neutrophil, contributes to the over-active inflammatory response that occurs when the lungs of A-T mice are damaged. In hopes of finding a breakthrough approach to preventing lung damage in people with A-T, Dr. Sekiguchi’s team will test whether two compounds that target neutrophil-driven inflammation can reduce lung damage in A-T mice.

2017. Enabling Drug Screening for Ataxia TelangiectasiaPrimary researcher: Edward C. Gilmore, MD, PhD, Case Western Reserve University. Grant period 3/1/2017-2/28/2018. A-T Children’s Project funded with support from Wobbly Feet.

Project Description: Many drugs now taken by millions of people were discovered by high-throughput drug screening, a process in which scientists use robotics, data processing and control software, liquid handling devices and sensitive detectors to quickly perform millions of chemical tests until they find compounds that correct a biomolecular pathway that scientists believe is relevant to a disease. Now, the laboratory of Ed Gilmore, MD, PhD will begin this approach to ataxia-telangiectasia (A-T) and to discover drugs that treat the disease’s neurological problems. Based at Case Western Reserve University in Ohio, Dr. Gilmore believes that when the A-T protein is missing, a certain type of naturally occurring DNA damage, called double-strand breaks, isn’t repaired properly, ultimately leading to the brain cell death and neurological problems faced by children with A-T. His team will therefore focus on isolating brain cells from mice that have been engineered to have A-T and then identifying compounds that prevent double-strand breaks in those cells.

Once a promising compound(s) is identified, the A-T Children’s Project will quickly pursue the many subsequent steps required in drug discovery and development to advance effective and safe drugs that will slow or prevent the brutal neurological decline faced by patients. In this situation, Wobbly Feet intends to provide additional funding support.

2015. Defined A-T iPSC lines with genetic diversityPrimary researcher: Ronald Hart, PhD, Rutgers University. A-T Children’s Project funded with support from Wobbly Feet.

Project description: Ronald Hart, PhD and his lab will create induced pluripotent stem cells (iPSCs) using blood samples taken from kids with A-T. Disease-specific iPSCs are often called “disease in a dish” models, because they allow scientists to study a disease using cells in culture, outside of a human or animal body. Especially exciting, with the right stimulation, it may be possible to turn the iPSCs into brain cells, providing a way for neuroscientists to learn more about how A-T affects the brain. In addition, iPSCs can be used to screen chemical compounds for potential new drugs.

Update: Dr. Hart’s lab has established methods to test ATM function in iPSC lines to use as quality control when lines are distributed and is undergoing continued testing to reprogram A-T iPSC lines from existing blood samples.

2014. Metabolic Sensing and Stress Response Deficit in Ataxia TelangiectasiaPrimary researcher: Dr. Michael Kastan of Duke Cancer Institute. A-T Children’s Project funded with support from Wobbly Feet.

Project description: Scientists led by Michael Kastan, MD, PhD, head of the Duke Cancer Institute in Durham, North Carolina, have discovered that cells taken from A-T children are abnormally sensitive when deprived of nutrients such as glucose, glutamine and oxygen. With a grant from the A-T Children’s Project, the team will now study metabolic stress pathways in A-T to determine if metabolic abnormalities are responsible for the brain deterioration and lung problems of A-T. The goal of this project, which is co-funded by the Wobbly Feet Foundation, is to identify proteins in these pathways that, when influenced by drugs, may alleviate many of the devastating symptoms of A-T.

  • 2017 update: Dr. Kastan’s research is continuing to make advancements through a grant from the Orphan Disease Center at University of Pennsylvania School of Medicine.
  • 2015 update: Due to study results so far confirming their theoryDr. Kastan and his team will continue their research to explore possible drug targets towards a clinical trail.

2013. Mitochondrial Reactive Oxygen Species and Dysfunction in Ataxia-Telangiectasia.  Primary researcher: Dr. Gerald Shadel, PhD. Yale University.

  • 2014 update: Dr Shadel and staff’s result are positive, confirming their theory. At the end of yr 1 (2013), CT Innovations (Venture Capital firm) awarded Dr. Shadel a 2 yr grant to pursue the analysis of Mitochondrial defects in induced pluripotent stem cells from A-T patients.
  • 2016 update: Study results suggest mitochondrial antioxidant therapy as a useful approach to treat A-T. Additional tests are being completed to confirm.

2011-2013. Linking Neuro-degeneration to Protein Turnover in Ataxia Telangiectasia. Primary researcher: Dr. Shyamal Desai, PhD. Louisiana State University. A-T Children’s Project funded with support from Wobbly Feet.

2011-2013. PCD mice as an Animal Model of Ataxia in A-T  Primary researcher: Dr. Kamran Khokakhah, PhD. Albert Einstein University. A-T Children’s Project funded with support from Wobbly Feet.

2010-2013. Systematic Inflammation in Patients with Ataxia Telangiectasia. Primary researcher: Dr. Sharron McGrath-Marrow, Johns Hopkins Hospital. A-T Children’s Project funded with support from Wobbly Feet.