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Selective Mutism Survey Study – Participate today

Selective Mutism Survey Study – Participate today

by Gabbie Nadeau | Mar 21, 2022 | Research News, Uncategorized

Asmita Mistry, M.A. CCC-SLP, Speech Language Pathologist, is currently a doctoral student at Kean University in New Jersey. She is conducting a survey study on selective mutism in individuals aged 4 to 25 years. Selective mutism is characterized by the inability to...
Artificial Intelligence Detects Risk of Genetic Syndromes in Children

Artificial Intelligence Detects Risk of Genetic Syndromes in Children

by Gabbie Nadeau | Sep 29, 2021 | Research News

Children’s National Hospital’s AI enables rapid genetic screening. Artificial intelligence (AI) machine learning is increasingly being used as a diagnostic tool for health care, biotechnology research, medical care, and life sciences. A new study published today in...

Targeted Gene Sequencing, Bone Health, and Body Composition in Cornelia de Lange Syndrome

by Gabbie Nadeau | Jan 14, 2021 | Research News

Abstract The aim of this study was to evaluate bone health and body composition by dual-energy X-ray absorptiometry (DXA) in individuals with Cornelia de Lange Syndrome (CdLS). Overall, nine individuals with CdLS (five females, all Caucasian, aged 5–38 years) were...

Roberts Individualized Medical Genetics Center outlines centralized genetic testing model

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...

SickKids scientist calls for ‘national strategy’ to get genome sequencing covered in Canada

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...

Researchers describe new functions of protein that play key role in some tumors and rare diseases

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...

New Blood Test May Help Diagnose Prader-Willi Syndrome, Other Complex Disorders

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...

Cornelia de Lange syndrome: What every otolaryngologist should know

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...

AI face-scanning app spots signs of rare genetic disorders Deep-learning algorithm helps to diagnose conditions that aren’t readily apparent to doctors or researchers.

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...

Cornelia de Lange syndrome in diverse populations

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....
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