Blog Home > August 2012 Archives

Meet New Staff Member: Kellie!

Name: Kellie German Santiago College: Elizabethtown College (Elizabethtown, PA) Favorite Food: Homemade sauce, made with my grandma's recipe Favorite TV Show: The Newsroom Hobbies:  I love doing projects, especially making things to decorate my house or anything involving photos. I also love to read and play tennis, but I am not very good at it. Fun Fact: I met Bill Clinton and Carson Daly on the same day....

Continue reading about Meet New Staff Member: Kellie! .

Middle School curriculum; "Rare Diseases and Scientific Inquiry"

As school begins once again, many parents may be thinking of ways to integrate your son or daughter's CdLS into their classroom.  This would help their peers understand more about CdLS, help their teachers understand what it means for your child's learning process, and help your child become more streamlined into the education process and the school in general. The National Institutes of Health have created a curriculum for 6th to 8th grade teachers, entitled "Rare Diseases...

Reaching Out Preview - Summer 2012

                                                            In the upcoming issue of Reaching Out, look for new findings on Anesthesia and information about your child's IEP for back to school. ...

Continue reading about Reaching Out Preview - Summer 2012 .

Back to School with CdLS

It has begun: the back to school commercials, the sales, the excitement of new classmates and teachers. There is a sense of adventure in the air as students gear up for a new school year. You can help the student in your life get prepared for "Back to School" by informing the people around them in the classroom, lunchroom, school bus, etc., about what they need to succeed.  The Genetic Alliance makes a great...

Continue reading about Back to School with CdLS .

Fourth "CdLS Gene" Found

Adding to the previous list of three genes (NIPBL, SMC1A and SMC3) that contribute to the development of Cornelia de Lange Syndrome (CdLS), Dr. Matthew A. Deardorff, a pediatric genetics clinician and scientist, and his study team at The Children's Hospital of Philadelphia, have announced that changes in the HDAC8 gene also cause CdLS. This gene change has been identified in approximately five percent of patients with CdLS. For the full article, please visit The...

Continue reading about Fourth "CdLS Gene" Found .

35 Years of "Reaching Out"

Being without Internet access for a few days has given employees at the Foundation some extra time to organize offices, drawers and closets. While digging up the past, we came across one sheet of particular interest: the very first Reaching Out from July/August 1977, making this month Reaching Out's 35th anniversary! Below is a photo of the document we found. As you can see, it's grown quite a bit!...

Continue reading about 35 Years of "Reaching Out" .

FDA Safety and Innovation Act: A Step Forward for Patients With Rare Diseases - NORD

Here is an interesting article on rare disease patients and families, written by By Peter L. Saltonstall, President and CEO of National Organization for Rare Disorders (NORD) about developments around the FDA Safety and Innovation Act. Here is a short excerpt for a brief preview of what you'll find in the article: "Of particular importance to NORD and the 30 million Americans with rare diseases it represents are the provisions related to: ยง  Accelerated patient access to new medical treatments...


« Go Back To The CdLS Blog Home Page