2010 Year in Review

Happy Holidays,

This has been an exciting year for all of us working to support those challenged with APS Type 1 Disorder. We continue to find new individuals and family members and have expanded our network quite significantly. To date we reach about 25 people afflicted with this disorder and many extended families dealing with the challenges of APS Type 1. Since Gaby's diagnosis in 2006 we've learned a lot about this condition and enjoy the support of our APS Family.  Looking back on this year we have a lot to be thankful for....here are a few highlights.

• Our 4th Annual APS Type 1 "Driving for a Cure" golf outing had 132 golfers attend and our evening event had 150 people in attendance. We raised with the outing, tricky tray raffle, live auction, and contributions, over $20,000 dollars! For the first time we also had three APS Type 1 individuals and their families attend which was a real treat. Thanks to the Seyfert and Glennon family for joining us. See picture below. The event is one that continues to give and we thank all who work and support our event in anyway. Our 5 Year Anniversary event is scheduled for May 20,2011 at the Berkleigh Country Club in Kutztown PA, so mark your calendars now!
• Through the hard work of Jennifer Orange in support of her daughter Julia, she is hard at work developing an APS Type 1 Registry. This will be critical for on going research and we commend Jennifer for her hard work on this project that we know will benefit all of us. With a condition like APS Type 1 that effects ~ 1 in every 2 Milllion people it's vital for us to find each other and this project will go a long way to supporting that effort. Thank you!
• This past November, the Seyfert Family also celebrated their 4 year anniversary of "Three Village Auction for a Cure" basket raffle in Setauket, NY. We had the opportunity to join Dave and Sherri and spend some time at the event. It was incredibly impressive to see the support of the local community, family, and friends. Their event raised over $15,000 dollars this year. Congratulations Seyferts!
• As you know...Research is key to our fund-raising efforts and through our restricted research grant at NORD, we are very excited about our 3rd research project that was awarded by their MAC (Medical Advisory Committee) this month. This project is special to us because Gaby actually joined this research project earlier this year. Seeing our funds going to a research project that we are participating in was a wonderful surprise.

2010 research grant recipient:

Mark S. Anderson, MD, PhD; Mickie Cheng, MD, PhD; Anthony Shum, MD
Diabetes Center
University of California, San Francisco
Novel Translational Biomarkers in the Diagnosis and Management of APS Type 1

• An update on our other two research projects is noted below for your educational purposes.
• Looking Ahead to 2011...we are off to a great start...Going into next year's research grant cycle, our group already has a balance of $41,205. Since the start of our NORD APS Type 1 research fund back in 2007, we have raised a total of $180,150!! (WOW!)

So you can see...it's been quite a year. Gaby will be 16 this January...and we thank God everyday for this wonderful young lady in our lives. We hope some day there will be a cure and the challenges that face her and others with this disorder will be a distant memory. If you had a good year and looking to make a year end tax deductible donation...there is no time like the present! You can make a contribution on line on our website at www.apstype1.org. There is a link in the upper right corner that will take you directly to NORD's website. (Thanks Dana for your web support!)

This is the time of year to give thanks. We thank YOU ALL for being a part of our lives. Have a happy Holiday, a Merry Christmas, and a HAPPY and HEALTHY New Year.

Cheers,

The Talarico's

2008 and 2009 Grant Award Mid Research Updates:

Dr Wabl's Research:
(July, 2009)
A deficiency in the autoimmune regulator (AIRE)—a protein needed to help our immune system distinguish ourselves from invading microbes—leads to a large variety of clinical outcomes in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). But the AIRE deficiency by itself does not explain the failure of patients to fight off fungal infections (with the help of so-called antibodies). Our immune system stands ready to meet all kinds of different microbial threats, but it needs to get into focus for a particular pathogen. It does so by expanding the appropriate white blood cells specific to that pathogen and by sharpening their discrimination power. Our work explains the failure to mount good immune responses in APECED patients by suggesting that more antibody-producing white blood cells with irrelevant reactivity are expanded than in healthy persons, which, in turn, leads to an unfocused response.

(June, 2010)
Although the autoimmune diseases in APECED patients are, in part, explained by a failure of
the thymus to teach the immune system the difference between “self” and “non-self,” what triggers a
specific autoimmune disease, and when, remains unexplained. In a new hypothesis, we postulate that
endogenous virus-like DNA elements are a second factor in the onset of disease.

Dr. Cihakova's Research interim report :

(November, 2010)
We have found that the decreased ability of APECED patients to fight specific yeast infections could be a result of ineffective TH17 cell responses that are necessary to cure such infections. Our results from AIRE KO mice, which are a model of APECED disease, suggest that multiple defects of dendritic cells contribute to insufficient TH17 response and chronic candida infections.