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 | Sep 18, 2019 | Uncategorized
I was 21 weeks pregnant. “Hi, Molly. This is Dr. F. calling about your blood work.” My heart started racing. I knew the doctor wouldn’t call unless he was concerned. I ran to the bathroom of the restaurant we were in – the only place I could think to go. My...
by Gabbie Nadeau | Sep 6, 2019 | Media Room, Uncategorized
By Sean Teehan The Avon-based Cornelia de Lange Syndrome (CdLS) Foundation has moved its headquarters to a larger office in town to facilitate growth, it said. The CdLS Foundation has 10 employees and provides services — including running support groups and four...
by Gabbie Nadeau | May 28, 2019 | Uncategorized
LEWISTOWN — Marckis Mountz is a sweet and bubbly 4, soon to be 5-year-old little boy whose smile lights up the room. He lives in Lewistown with his parents, Jana and Ken Mountz. He is the youngest of seven children; two remain at home with him and four are adults. He...
by Gabbie Nadeau | Jan 16, 2019 | Research News
A deep-learning algorithm is helping doctors and researchers to pinpoint a range of rare genetic disorders by analysing pictures of people’s faces. In a paper1 published on 7 January in Nature Medicine, researchers describe the technology behind the diagnostic aid, a...
by Gabbie Nadeau | Jan 16, 2019 | Research News
Leah Dowsett Antonio R. Porras Paul Kruszka Brandon Davis Tommy Hu Engela Honey Eben Badoe Meow‐Keong Thong Eyby Leon Katta M. Girisha Anju Shukla Shalini S. Nayak Vorasuk Shotelersuk Andre Megarbane Shubha Phadke Nirmala D. Sirisena Vajira H. W. Dissanayake Carlos R....
by Gabbie Nadeau | May 7, 2025
Meet Zuri, Our Joyful Bloom! Zuri is a bright light in our lives, full of strength, love, and a spirit that keeps blooming no matter the season. She lives with Cornelia de Lange Syndrome (CdLS), a rare genetic condition that affects her daily life in many ways....
by Gabbie Nadeau | Sep 29, 2023
Join us for the 2023 Walk for Will & Hope on Sunday, October 15, at Stony Creek Metropark in Shelby Township. We’ll walk two miles to raise funds for the CdLS Foundation. The walk is named after Will and Hope Kurth, who were both born with Cornelia de Lange...
by Gabbie Nadeau | Nov 3, 2020
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