Saturday, November 27, 2010

Shwachman-Diamond Syndrome Fundraiser

I haven't done much fundraising for Shwachman-Diamond America this past year, so I've decided to donate all the proceeds from sales through my Stampin up! website from now through Christmas to Shwachman-Diamond America. Shwachman-Diamond America has done great things this year. SDA supported the North American Shwachman-Diamond Syndrome Registry whose website went live this year, they supported Camp Sunshine with a small donation, paid expenses for Dr. Harris to present grand rounds at Wake Forest, just approved an $8,000 USD research grant and approved a minimum of $8,000 USD to support the Sixth International Congress on Shwachman-Diamond Syndrome in NYC next year.

SDA would love to donate more to the Congress, but in order to do that, SDA needs to raise more money.

Please consider helping the cause. Stampin Up! Sells great scrapbooking, card making and crafting items. Their products make wonderful Christmas gifts, too! No special promotion code needed..... I will donate all proceeds from on-line sales now through Christmas Day to Shwachman-Diamond America. Just visit http://www.pattiecurran.stampinup.net/  Here's a picture of a card and matching luminary I made over Thanksgiving. I gave a set like this to a friend as a small gift and she loved it! You can learn to make the luminary on my video tutorial website Twosday's Techniques.

Thursday, November 25, 2010

Nov/Dec 2010 Shwachman-Diamond America Newsletter

http://www.shwachmandiamondamerica.org/cgi/wp/wp-content/uploads/2010/11/sdanews-nov-dec-2010.pdf

The Nov/Dec 2010 Shwachman-Diamond America Newsletter.  Lots of great stuff happening!

If you'd like to see the past 3 years (19 total issues!) of the SDA newsletter, please go to this link to read them all:

http://www.shwachmandiamondamerica.org/newsletter.html

Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes

http://www.impactaging.com/papers/v2/n11/full/100235.html 

Full text Article available at this link above

Telomere length in blood, buccal cells, and fibroblasts from patients with inherited bone marrow failure syndromes

Abstract

Telomeres, the nucleotide repeats and protein complex at chromosome ends, are required for chromosomal stability and are important markers of aging. Patients with dyskeratosis congenita (DC), an inherited bone marrow failure syndrome (IBMFS), have mutations in telomere biology genes, and very short telomeres. There are limited data on intra-individual telomere length (TL) variability in DC and related disorders. We measured relative TL by quantitative-PCR in blood, buccal cells, and fibroblasts from 21 patients with an IBMFS (5 Diamond-Blackfan anemia, 6 DC, 6 Fanconi anemia, and 4 Shwachman-Diamond syndrome). As expected, TL in patients with DC was significantly (p<0.01) shorter in all tissues compared with other IBMFS. In all disorders combined, the median Q-PCR TL was longer in fibroblast and buccal cells than in blood (overall T/S ratio=1.42 and 1.16 vs. 1.05, p=0.001, 0.006, respectively). Although the absolute values varied, statistically significant intra-individual correlations in TL were present in IBMFS patients: blood and fibroblast (r=0.66, p=0.002), blood and buccal cells (r=0.74, p<0.0001), and fibroblast and buccal cells (r=0.65, p=0.004). These data suggest that relative TL is tissue- independent in DC and possibly in the other IBMFS.

Friday, October 29, 2010

UK Boy with SDS Headed to Transplant

This is a newspaper article about a boy in the UK who is headed for bone marrow transplant.  Kane Prepares for Transplant

Friday, May 14, 2010

Shwachman-Diamond Syndrome Registry Website up!

The North American Shwachman-Diamond Syndrome registry website is now up and running!  Check it out: http://www.sdsregistry.org/