by Gabbie Nadeau | Mar 19, 2020 | Uncategorized
To all our member families, We want to address the issue of Cornelia de Lange Syndrome and gene therapy, both to dispel any rumors that have been circulating and to paint a realistic picture of where things stand right now. Gene therapy is a recent advance in the...
by Gabbie Nadeau | Feb 28, 2020 | Research News
Philadelphia, February 26, 2020 – The Roberts Individualized Medical Genetics Center (RIMGC) at Children’s Hospital of Philadelphia (CHOP) launched in 2014 as a first-of-its-kind system to help families navigate the complex process of genetic and genomic...
by Gabbie Nadeau | Oct 31, 2019 | Uncategorized
After 23 years of dedicated service, Lynn will hang up her CdLS cape and walk off into the sunset. Lynn’s retirement is bittersweet for those of us who have had the pleasure of working with her. She can always be counted on to for her dedication to the families, her...
by Gabbie Nadeau | Oct 21, 2019 | Uncategorized
Recently, we learned the sad news that LAIRD JACKSON – the CdLS Foundation’s first medical director passed away. Before the founding of our beloved Foundation there was the Reaching Out newsletter. Those early pioneers sent out a request to the medical community...
by Gabbie Nadeau | Aug 7, 2019 | Uncategorized
TO MY AMERICAN FRIENDS: I had the pleasure of representing us at the CdLS International Conference last weekend in Europe. It was a bittersweet experience to say goodbye to our friends around the world who are part of our CdLS Family. It was thrilling to see families...
by Gabbie Nadeau | Jun 24, 2019 | Research News
The U.K. will pay for children with mysterious rare disorders and their parents to have their entire genomes sequenced — Canadian scientists want the same The U.K. is rolling out a program in which all seriously ill children without a diagnosis will be able to get...
by Gabbie Nadeau | Jun 24, 2019 | Research News
by The Spanish National Cancer Research Centre Two mouse embryonic stem cells in which two Polycomb regions from different chromosomes (HoxC, green; HoxD, red) appear next to each other (arrows). Cohesin-SA2 promotes this type of contacts between distant Polycomb...
by Gabbie Nadeau | Jun 14, 2019 | Uncategorized
by Shaun Heasley | June 12, 2019 With a bipartisan proposal, members of Congress are pushing a new plan to increase competitive, integrated employment for young people with developmental disabilities. A bill introduced in the U.S. House of Representatives this month...
by Gabbie Nadeau | May 24, 2019 | Uncategorized
Deep within a labyrinth of offices at Wright Junior High School, eighth-grader Mikayla Needlman gently knocks on Lincolnshire-Prairie View School District 103 Superintendent Scott Warren’s door. Warren quickly opens up and smiles at his young visitor. Mikayla...
by Gabbie Nadeau | Apr 16, 2019 | Research News
A new blood test called EpiSign may help identify complex and hard-to-diagnose genomic imprinting disorders such as Prader-Willi syndrome (PWS). EpiSign, available in two versions, can diagnose 19 complex disorders. This newly available diagnostic tool, which...
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