Author Interviews, Autism, Brigham & Women's - Harvard, Genetic Research / 26.08.2024

MedicalResearch.com Interview with: Caroline Dias, M.D., Ph.D. Assistant Professor, Pediatrics-Developmental Pediatrics University of Colorado Anschutz Medical Campus       Christopher Walsh, M.D., Ph.D. Chief, Division of Genetics and Genomics Bullard Professor of Pediatrics and Neurology at Harvard Medical School and researcher who has used material donated to the brain bank     MedicalResearch.com: What is the background for this study? Response: Many different types of genetic variants contribute to neurodevelopmental disorders such as autism. Copy number variants are large pieces of genetic material that are duplicated or deleted. We have known for many years that many copy number variants at certain genetic locations are linked to autism. Because these copy number variants may include lots of different genes, it has been difficult to understand how these copy number variants alter human brain function. Furthermore, although animal models are important, autism is in many ways defined by differences in uniquely human cognitive and social functioning. Better understanding of how these copy number variants change human brain function will shed light on universal mechanisms that regulate neurodevelopment. We studied a copy number variant called dup15q, that is associated with almost 40-fold higher rates of autism vs. the general population. We studied post-mortem human brain tissue from individuals with dup15q, individuals with autism not related to dup15q, and neurotypical controls, to better understand how the human brain is impacted by dup15q. We focused on frontal cortex, an important brain region in executive function and social perspective taking. We applied cutting edge techniques that allow us to assess individual cells in the brain.  (more…)
Allergies, Author Interviews, Pediatrics / 10.05.2023

MedicalResearch.com Interview with: Matthew Greenhawt, MD, MBA, MSc Professor of Pediatrics Section of Allergy and Immunology Director, Food Challenge and Research Unit Children’s Hospital Colorado University of Colorado School of Medicine Anschutz Medical Campus Aurora, CO 80045   MedicalResearch.com: What is the background for this study? Is the incidence of peanut allergy in toddlers stabilizing with the earlier introduction of peanuts? Response: There exists an urgent unmet medical need for infants and toddlers living with peanut allergy. Peanut allergy affects approximately 2% of U.S. children and has been a growing public health problem over the past 20 years. In fact, the number of kids affected by peanut allergy has tripled in that time span. Peanut allergy is not likely to be naturally outgrown, and reactions can be severe. However, there is hope. There is growing evidence that the allergic immune system is more modifiable early in life. The EPITOPE study evaluated Viaskin Peanut in children ages 1 – 3 years of age. Viaskin Peanut is an investigational epicutaneous immunotherapy (EPIT) product, which uses the skin as a route to desensitize a patient to be less reactive to peanut. This is a daily therapy, worn between the shoulders on the back, which allows for non-oral peanut desensitization, which many parents find highly appealing. (more…)
Author Interviews, Health Care Systems, JAMA / 30.12.2019

MedicalResearch.com Interview with: Maryam Guiahi MD, MSc Associate Professor of Obstetrics and Gynecology University of Colorado Denver School of Medicine MedicalResearch.com: What is the background for this study? Response: The composition of the U.S health care system is shifting; between 2001 to 2016 the number of Catholic-owned or affiliated health facilities grew by 22% in contrast to the overall number of acute care hospitals that decreased by 6% and the number of other nonprofit religious hospitals that decreased by 38%. This is relevant as Catholic health care systems enforce religious directives that restrict many aspects of reproductive care and certain aspects of end-of-life care.  Yet little is known about the extent to which U.S. patients consider religious affiliation when selecting a health care facility.  (more…)