ABOUT ATAXIA-TELANGIECTASIA (A-T)
“Ay-TACK-see-uh Teh-LAN-jick-TAY-sha”

Children with A-T are born perfect and seemingly healthy – with limitless potential – until compromises are forced on them by this debilitating deadly disease.

• is a rare genetic disease
• attacks in early childhood
• progressively affects coordination
• predisposes patients to fatal cancers
• severely compromises the immune system

Children with A-T are …

• as rare as one in 40,000 births
• from all races and ethnicities
• usually unable to walk by age 10 and
• may not survive their teens and rarely survive their twenties

Carriers of mutated copies of the A-T gene are approximately 1 per 100 individuals in the general population.

Compared to the typical population, the cancer rate of children with A-T is 1,000 times higher, and the cancer rate of carriers can be up to 4 times higher.

Public health implications of ataxia-telangiectasia research

• Unraveling how the A-T protein works has shed new light on cancer, metabolic syndrome, and HIV/AIDS

• Understanding why brain cells get sick and die in A-T could provide insight as to why brain cells die in other neurodegenerative diseases such as Parkinson’s and Alzheimer’s disease

 

YOUR SUPPORT MAKES A DIFFERENCE - RARE DISEASES

There are roughly 5,300 human diseases known by molecular basis and about 500 have treatments, says the National Institutes of Health. Rare diseases, like A-T, often don’t have medicines, in part because many drug companies don’t want to make risky bets on the small markets they represent. However, through research work supported and coordinated by A-T Children’s Project and thanks to grassroots fund raising efforts of friends and families of A-T, new advances were made in research over the last decade but more work ahead.

GOALS OF A-T CHILDREN’S PROJECT

• Find life-improving therapies and a cure for ataxia-telangiectasia
• Encourage and fund first-rate scientific research directed toward developing therapies for A-T
• Support the A-T Clinical Center at Johns Hopkins Hospital in Baltimore, Maryland
• Increase awareness of A-T to help properly diagnose affected children

AREAS OF RESEARCH FUNDED BY THE A-T CHILDREN’S PROJECT

• Discovering how the A-T protein works in brain cells to uncover ways to fix those lacking this protein
• Screening thousands of compounds  to find potential new drugs to help A-T
• Neuroimaging to reveal abnormal brain function in A-T
• Developing rating scales to measure A-T, helping power efficient clinical trials
• Developing human cell and animal models for A-T to aid drug discovery and development   
• Conducting studies to improve the quality of care for people with A-T at the A-T Clinical Center at Johns Hopkins Hospital