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News from the A-T Children's Project

A-T Clinical Experts Meet in Poland

2016 - From October 6-8, clinicians, therapists and scientists gathered in Warsaw, Poland for the 2016 A-T Clinical Research Conference to discuss ways to improve the care for individuals with A-T.

Examining Lung Bacteria in A-T

2016 - Because more than 25% of patients with ataxia-telangiectasia (A-T) develop some form of chronic lung disease, the A-T Children’s Project has awarded a fellowship grant to Abrey Yeo, PhD in Australia to examine the mixture of bacteria found in the airways of individuals with A-T.

Long Time Advisors Elected to the National Academy of Sciences

2016 - Two of our long time scientific advisors have been elected to the prestigious National Academy of Sciences, one of the highest honors bestowed upon research scientists.

Testing Drugs to Protect A-T Brain Cells from DNA Damage

2016 – 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 to use funding from the A-T Children’s Project to apply this approach to ataxia-telangiectasia (A-T) and to discover drugs that treat the disease’s neurological problems.

Families of Ataxia-Telangiectasia Patients Worldwide Launch New Data Platform to Empower Researchers

2016 – Families around the world who have children affected by ataxia-telangiectasia (A-T) today announced the launch of the Global A-T Family Data Platform, through which health, genomic and potentially other types of data about their children with A-T will be responsibly collected and rapidly made accessible to scientists and physicians for analysis. It is expected that, by aggregating and harmonizing data from patients around the world, and by gathering additional data from families over time, this new resource will advance the understanding, diagnosis and treatment of this rare but brutal disease.

A-TCP at Neurodegeneration Workshop

2016 – Brad Margus, Chairman and Founder of the A-T Children's Project, was invited to participate in the "Neurodegeneration: From Cellular Concepts to Clinical Applications" workshop taking place on April 11-12, 2016 in Houston. It is an incredible opportunity for the A-TCP to gain special access to about 450 leading physicians, scientists, pharmaceutical company executives and government people.

Growing A-T Brain Cells in a Dish

2016 - With funding from the A-T Children’s Project, the laboratory of Anthony Wynshaw-Boris, MD, PhD at Case Western Reserve University in Cleveland, Ohio will attempt to grow A-T brain cells in laboratory dishes to overcome the obstacle of not being able to access and study living brain cells from A-T patients.

Career A-T Researcher Focuses on Brain

2016 - With a multi-year grant award from the A-T Children’s Project, Yossi Shiloh, PhD from Tel Aviv University in Israel will now turn much of his laboratory’s focus toward how the loss of the A-T protein causes brain cells to die in people with A-T.

ATW2015 Includes Sessions on Neurogeneration and Non-Traditional Roles of the A-T Protein

2015 - Scientists and clinicians from around the world traveled to Beijing, China in October to share information at the 2015 A-T Workshop, a meeting co-sponsored by the A-T Children’s Project and held at the Capital Normal University.

Correcting Cell Metabolism in A-T

2015 – Scientists have known for a long time that skin and blood cells obtained from A-T patients do not survive as well as cells from healthy people, and recent discoveries have hinted that A-T cells, especially brain cells in A-T patients, may be dying because of defective cell metabolism. The A-T Children’s Project has therefore funded Rodney Shackelford, PhD from the LSU Health Sciences Center in Shreveport, Louisiana to determine if the correction of abnormal metabolism in A-T cells, specifically abnormal nicotinamide adenine dinucleotide (NAD) metabolism, increases their survival in culture.

Expanding MRI Imaging for A-T Beyond the Brain to Lungs

2015 – Recently, Stephen Rose, Kate Sinclair and Martin Lavin from the Queensland Institute of Medical Research in Brisbane, Australia, successfully used a special kind of magnetic resonance imaging (MRI), called diffusion MRI, to examine the brains of people with A-T at various ages. They observed changes in the cerebellum and in projections from the cerebellum to other parts of the brain that help control movement, and published their findings in the scientific journal Movement Disorders.

Spinal Fluid May Hold Clues for A-T

2015 - With funding from the A-T Children’s Project, Stefan Zielen and Ralf Schubert from the Goethe-University in Frankfurt, Germany will examine spinal fluid from children and adolescents with A-T in an attempt to identify measurable indicators of oxidative stress, inflammation, or tissue breakdown that correlate with disease progression and severity.

Recursion Pharmaceuticals Announces Funding Support for Ataxia-Telangiectasia

2015 - Recursion Pharmaceutical Press Release - Recursion Pharmaceuticals, an emerging biotech company today announced receipt of a research award from the A-T Children’s Project, which seeks to support research for the disease ataxia-telangiectasia.

Making Sure a New A-T Rating Scale Is Used Correctly Worldwide

2015 - When clinical trials are performed by researchers at different sites to test the efficacy of potential medicines in A-T patients, it is critical for all the researchers to use the same scale, accurately and consistently, to measure each patient’s condition before and after the treatments.

MD-PHD Student Focuses on Eye Problems in A-T

2015 - Pavan Vaswani, an MD-PhD student at the Johns Hopkins University School of Medicine, has just earned the PhD portion of his dual degree by researching eye movements in A-T. In the Laboratory for Computational Motor Control, headed by Reza Shadmehr, PhD, and under the guidance of Thomas Crawford, MD, pediatric neurologist for the A-T Clinical Center, Vaswani compared how healthy people and people with A-T make certain eye movements.

Cellular Clocks and A-T

2015 - With funding from the A-T Children’s Project, Mary Armanios, MD, Associate Professor in the Department of Oncology at the Johns Hopkins University School of Medicine, is exploring a possible connection between the shortened telomeres seen in the cells of A-T patients and the severity of their immune system problems and lung disease.

Mitochondria Experts Ponder A-T

2014 - Mitochondria, tiny oval structures found within our cells, are essentially power houses. They produce the energy our cells need to function and survive. And abnormal mitochondrial activity plays a role in many diseases, including several neurological disorders.

Discovery Spurs Promising New Research on A-T Metabolism

2014 - 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.

How Does A-T Affect Learning and Emotions?

2014 - Researchers discover mutations in a protein that plays a role in the body’s DNA repair system—similar to what’s observed in the rare children’s disease ataxia-telangiectasia.

A-T Brain Imaging Study Offers Clues for Treatments

2014 - In a groundbreaking imaging study just published in the journal Brain, researchers identified new treatment ideas that have the potential to help people with ataxia-telangiectasia (A-T) to move better.

Unravelling Nerve Cell-Death in A-T

2014 - Researchers discover mutations in a protein that plays a role in the body’s DNA repair system—similar to what’s observed in the rare children’s disease ataxia-telangiectasia.

A-TCP in International Effort to Share Genomic Data

2014 - As a founding member of the Global Alliance for Genomics and Health (GA4GH), the A-T Children’s Project joins 148 organizations and institutions to meet the challenge of sharing genomic and clinical data to advance human health. Analyzing large amounts of genomic data will help researchers find treatments for both common and rare disorders.

Understanding A-T through Brain Imaging Technology

2014 - Using brain imaging technology, researchers at the University of Nottingham, United Kingdom, are working on a way to develop biomarkers for ataxia-telangiectasia that may enable and accelerate future clinical trials.

New Handbook: Caring for People with A-T

2014 - The A-T Children’s Project is now distributing a new, 16-page Caring for People with Ataxia-Telangiectasia handbook.

New Patient Registry for A-T

2014 - In a partnership with the Coordination of Rare Diseases at Sanford (CoRDS) Registry program at Sanford Research, the A-T Children’s Project will launch a formal registry in early 2014 to help researchers find patients for future drug trials.

Year End Message from Brad Margus

2013 - As you plan your year-end charitable contributions, here are some reasons why I’m hoping you’ll include us in these final 24 hours...

Optimizing Cancer Management in A-T

2013 - The A-T Children’s Project hosted a small, two-day workshop in Boston, Massachusetts entitled “Optimizing Cancer Management in A-T.” Clinical oncologists and immunologists from around the world gathered to discuss what is known, and what needs to be learned, about caring for patients with A-T who develop cancer.

Disneyland Half Marathon Weekend raises over $255,000 for the A-T Children’s Project

2013 - Over 250 A-T CureTeam runners completed either 5K, 10K, Half Marathon, or inaugural Dumbo Double Dare (10K and Half Marathon) over Labor Day weekend, lacing up to help fund research to find a cure for A-T.

Ben Affleck and Jennifer Garner match $25,000 in gifts to the A-T Children’s Project

In celebrating Joe Kindregan's 25th birthday as well as their 15 years of friendship with Joe and his family, Affleck and Garner matched $25,000 in donations made in honor of their friend, Joe, to the A-T Children's Project.

New Mouse Model of A-T may have Neurological Symptoms Similar to Kids with A-T

We have just awarded funding to Margot Mayer-Proschel, PhD at the University of Rochester to characterize a new mouse model that her lab has developed for A-T.

Researcher Developing “A-T in a Dish”

With a research grant from the A-TCP, Ronald Hart, PhD at Rutgers University in New Jersey will create induced pluripotent stem cells (iPSCs) using blood samples taken from kids with A-T.

A-TCP Leader to Co-Chair NeuroNEXT Oversight Board at NIH

Brad Margus has been tapped to co-chair the oversight board for the Network for Excellence in Neuroscience Clinical Trials, or NeuroNEXT, a new, innovative program at the National Institutes of Health.

A-TCP Supporters Celebrate Rare Disease Day

On February 28, friends and families of A-T kids across the U.S. and Canada raised funds for A-T research by celebrating Rare Disease Day.

A-T CureTeam Marathoners Run at Disney World Marathon Weekend

The A-T CureTeam weekend from January 11-13 proved to be a huge success – for both crossing finish lines and raising funds.

Global A-T Neuroscience and Drug Discovery Forum was held in the Washingon DC area November 13-15, 2012

The A-T Children's held a workshop that focused on finding treatments for A-T's debilitating neurological symptoms. All researchers and families were invited to attend.

Examining Circuitry and Possible Inflammation in the A-T Brain

With funding from the A-T Children’s Project and the Australian-based BrAshA-T organization, a team of researchers in Australia is using neuroimaging technology to learn more about abnormal circuitry and inflammation in the brains of A-T patients, possibly providing clues for therapeutic targets and uncovering imaging biomarkers for use in clinical trials.

Drug Expert Joins A-TCP Scientific Advisory Board

The A-T Children’s Project welcomes Dr. Phillip LoGrasso to its Scientific Advisory Board. Dr. LoGrasso is a Professor in the Molecular Therapeutics Department and Senior Director of Drug Discovery in the Translational Research Institute within The Scripps Research Institute where he has been since 2005. 

Brookhaven National Lab Conducts New Brain Imaging Study That Holds Promise
for A-T

With help from scientists who specialize in brain imaging, the A-T Children’s Project is seeking ways to treat the abnormal brain circuitry in ataxia-telangiectasia (A-T). For the first time, a comprehensive PET and fMRI study of the brains of adults with A-T has begun.

Recent Publications Look at G-Tube Satisfaction, Critical Care and Surgical Risks in A-T Patients

Three papers have been published recently in the scientific literature describing: 1) gastrostomy tube (G—tube) safety and satisfaction in patients with A-T; 2) the care of critically ill A-T patients and 3) the care of patients with A-T undergoing operations and the possible risks associated with the use of anesthesia for surgical procedures.

California Researcher Continues Development of a Cell Model for A-T

This type of “disease-in-a-dish” model can be used to screen hundreds of thousands of compounds for their ability to diminish or reverse certain characteristics of the disease in culture. Promising compounds or drugs can then be developed for future clinical trials.

Young Investigator Receives Post Doctoral Fellowship Award

A post doc at Louisiana State University will be studying neurological dysfunction in A-T for the Fellowship Award that he received from the A-T Children's Project.

Two New Research Projects to Focus on Cell Death and Consequences in the Brain

The A-T Children's is funding two new research grants that may provide insights regarding brain function in A-T. The Florida-based Wobbly Feet Foundation has agreed to co-fund part of each grant in an on-going partnership to accelerate A-T research.

British Researcher to Examine Benefits of Breathing-related Muscle Strength Training

The A-T Children's Project, together with the UK-based A-T Society, will fund a clinical study led by Emma Ross, PhD from the University of Brighton in England. This study will examine the effects of inspiratory muscle training (IMT) on lung function and quality of life in individuals with A-T.

Johns Hopkins Hospital: Ground-Breaking Paper Helps Doctors Manage Lung Problems in A-T

Lung problems cause sickness and death in many patients with ataxia-telangiectasia (A-T). However, a lack of information from following A-T patients’ lung disease over time has limited doctors’ knowledge of these critical problems. With the goal of providing expert advice on the diagnosis, evaluation, and management of lung disease in A-T, Dr. Sharon McGrath-Morrow and her colleagues at the A-T Clinical Center recently published a state-of-the-art paper in the journal Pediatric Pulmonology.

Progress Report: MD Anderson Cancer Center Investigator Uncovers New Roles For the A-T Protein in Blood and Brain Cells

Since the late 1990s, Paul K.Y. Wong, PhD, from the University of Texas MD Anderson Cancer Center has been exploring what goes wrong in blood and brain cells when the A-T protein is missing. Although A-T is not the primary research focus for Dr. Wong, a leading investigator in the area of mouse retroviruses as a model for HIV associated dementia, his laboratory has produced more than 10 A-T related papers in the past decade.

NIH Spearheads “NEXT” for Pediatric Neurological Trials

Over the last few years, the Children’s Neurobiological Solutions (CNS) Foundation and the A-T Children’s Project (A-TCP) began to realize that a critical gap existed in the path to bringing potential therapies to the clinic for children with neurological disorders. An organized network of multidisciplinary, well-funded clinicians experienced in performing clinical trials for rare, pediatric neurological disorders, like ataxia-telangiectasia
(A-T), did not exist.

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