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...
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 | 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...
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