Research News from CHOP
CHOP Study Explores the Use of Telemedicine in Child Neurology in Largest Study to Date
Certain patients were more likely to use telemedicine even with the reopening of in-person appointments, while barriers to telemedicine remained for some families.
CHOP Researchers Implicate Multiple Causal Genes that Drive Type 2 Diabetes Risk
CHOP researchers have used advanced 3D mapping techniques to identify genetic variants and corresponding target genes in the pancreas that are implicated in type 2 diabetes.
For Kids With Kidney Disease, Pediatric Expertise Is Key — But Not Always Close By
Dr. Sandra Amaral, attending physician in CHOP’s Division of Nephrology and the Kidney Transplant and Dialysis Program, led a study recently published in JAMA that found an association between dialysis facility ownership and access to the waiting list and transplant in pediatric patients with end-stage kidney disease in the United States. The findings were covered in this Kaiser Health News article.
Researchers Map Genomic Landscape of ALL
A new study by a multi-institutional group of pediatric cancer researchers, including those at CHOP, has characterized the genomic landscape for acute lymphoblastic leukemia.
CHOP Researchers Identify Genetic Risk Markers in Children with Sleep Apnea
First-of-its-kind study identifies differences between sexes as well as ethnic background.
CHOP Researchers Discover First Therapeutic Option for Patients with Rare and Aggressive Form of Mitochondrial Disease
Variants of the FBXL4 gene cause a severe form of the disorder with many complications and no approved treatment options.
Vitamin Treatment May Alleviate Exercise Intolerance Caused by Mitochondrial Impairment
New study shows how nicotimamide riboside, part of the vitamin B3 family, could mitigate myopathy caused by a genetic variant.
Adolescents Face Risk of Depressive Symptoms Immediately Following a Concussion
Nearly 1 in 3 adolescents reported elevated symptoms of depression in the first four weeks after concussion.
CHOP Researchers Develop Interdisciplinary Approach to Improve CPAP Use for Children with Sleep Apnea
The study found that the approach utilized in the study significantly reduced emergency room visits and hospitalizations related to the disorder.
CHOP Researchers Refine Understanding of Fetal Hemoglobin Regulation
CHOP researchers have discovered a new part of the regulatory cascade responsible for silencing fetal hemoglobin in adult cells.