by Gabbie Nadeau | Jan 16, 2019 | Research News
LCDR Michael J. Eliason, MD, USN; LCDR Jonathan M. Melzer, MD, USN; CDR Thomas Q. Gallagher, DO, USN Abstract Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology. We...
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 | Dec 27, 2018 | Uncategorized
By Paul SullivanThe New York Times (https://nyti.ms/2RanViN) Carole and Michael Maguire were careful to plan early for the financial needs of their daughter Ally, who is now 19 and attends the Riverview School on Cape Cod, Mass.Credit Credit Kieran Kesner for The New...
by Gabbie Nadeau | Oct 31, 2018 | In Memoriam
Natalie was a joyful and radiant child. When she was born, her doctors did not anticipate her living long. She defied this prognosis, and lived five very vibrant years with her loving family. Born to Jane and Arsalan, Natalie was the 5th of 9 children in the Nikzad...
by Gabbie Nadeau | Oct 19, 2018 | Research News
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...
by Gabbie Nadeau | Oct 19, 2018 | Research News
Dr. Olaf Bodamer wasn’t sure what was wrong with the 3-year-old boy he recently examined at Boston Children’s Hospital, but he had a hunch. The child’s muscle tone was weak, and he had taken longer than expected to start walking and talking. He also had unusual facial...
by Gabbie Nadeau | Oct 19, 2018 | Research News
The Cerebra Centre for Neurodevelopmental Disorders is organized through the School of Psychology at the University of Birmingham. Their work focuses on difficulties experienced by children and adults who have intellectual disabilities, autism spectrum disorders and...
by Gabbie Nadeau | Oct 17, 2018 | Uncategorized
Our friend Demetri was recently featured in Woman’s Day Magazine with his therapy horse, Sweet Pea. The two first met last year at an infant development center in Kansas. Demetri is deaf, nonverbal and legally blind, which are common characteristics of CdLS, but...
by Gabbie Nadeau | Oct 17, 2018 | Uncategorized
Dr. Haaland is currently the President of the CdLS Foundation Board of Directors What is something about CdLS or the Foundation that people might not know, but should? Many families recognize the Foundation for one or two things, since that’s what they call the...
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