Author Interviews, Brigham & Women's - Harvard, Cancer Research, Genetic Research, Nature / 18.04.2022
Brigham Researchers Develop Polygenic Risk Score Utilizing Diverse Genetic Databases
MedicalResearch.com Interview with:
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Dr. Vassy[/caption]
Jason Vassy, MD, MPH
Brigham and Women's Hospital
Division of General Internal Medicine & Primary Care
Brigham’s Precision Population Health at Ariadne Labs
and VA Boston
MedicalResearch.com: What is the background for this study?
Response: A person’s risk of developing diseases such as type 2 diabetes or breast cancer may be influenced by thousands of genetic differences, the effects of which can be combined to derive a single score, often called a polygenic risk score (PRS). PRS might be useful to help patients and their physicians make tailored decisions about their health care, but several challenges to the clinical implementation of PRS remain. Most importantly, most PRS are less accurate in individuals of non-European descent, since most genomic research to date has been conducted in European populations.
Another key challenge is that physicians and patients will need support to understand polygenic risk score and use them to make medical decisions. Clinical guidelines do not yet exist to help a physician know whether and how they should treat a patient with a high-risk score differently than an average-risk patient. We designed the Genomic Medicine at VA (GenoVA) Study to address some of these challenges.
Dr. Vassy[/caption]
Jason Vassy, MD, MPH
Brigham and Women's Hospital
Division of General Internal Medicine & Primary Care
Brigham’s Precision Population Health at Ariadne Labs
and VA Boston
MedicalResearch.com: What is the background for this study?
Response: A person’s risk of developing diseases such as type 2 diabetes or breast cancer may be influenced by thousands of genetic differences, the effects of which can be combined to derive a single score, often called a polygenic risk score (PRS). PRS might be useful to help patients and their physicians make tailored decisions about their health care, but several challenges to the clinical implementation of PRS remain. Most importantly, most PRS are less accurate in individuals of non-European descent, since most genomic research to date has been conducted in European populations.
Another key challenge is that physicians and patients will need support to understand polygenic risk score and use them to make medical decisions. Clinical guidelines do not yet exist to help a physician know whether and how they should treat a patient with a high-risk score differently than an average-risk patient. We designed the Genomic Medicine at VA (GenoVA) Study to address some of these challenges.
Dr. Cheng-Ying Ho[/caption]
Cheng-Ying Ho, MD, PhD
Associate Professor
Department of Pathology
Johns Hopkins University School of Medicine
MedicalResearch.com: What is the background for this study?
Response: Smell loss is one of the most common symptoms of COVID-19 infection. The mechanism of COVID-19-related smell loss is unclear. Previous studies mainly focused on the effect of the viral infection on the lining of the nasal cavity. We went a step beyond to examine the olfactory bulb, a region that transmits smell-related signals to the brain.
Dr. Ferris[/caption]
Laura Ferris, M.D., Ph.D.
Professor of Dermatology
Director of clinical trials for UPMC Department of Dermatology
University of Pittsburgh School of Medicine
MedicalResearch.com: What is the background for this study?
Response: In this quality initiative at UPMC (a large academic and community health system in Western PA and surrounding areas) Primary Care Physicians were trained to perform annual skin cancer screening examinations of their patients who were aged 35 years and older at routine medical visits.
Over a 5-year period more than 595,000 patients who were eligible to be screened were seen by a UPMC PCP and about 24% of them were screened. We compared the number and thickness (an important indicator of prognosis) of the melanomas diagnosed in those patients who were screened to those who were not screened.
Brett King, MD, PhD, FAAD
Associate Professor of Dermatology
Yale School of Medicine
MedicalResearch.com: What is the background for this study?
Response: Alopecia areata is an autoimmune disorder marked by disfiguring, non-scarring hair loss, and there are no therapies approved by the U.S. Food and Drug Administration for treatment of the disease. JAK inhibitors are showing promise for treatment of severe alopecia areata. In this work, the pooled results of two phase 3 clinical trials of the JAK inhibitor baricitinib were reported out to 52 weeks.
Dr. Klimis-Zacas[/caption]
Dorothy Klimis-Zacas, MS, PhD, FACN
Professor of Clinical Nutrition
School of Food and Agriculture
Graduate Faculty
School of Biomedical Sciences
Associate Faculty, Institute of Medicine
Fulbright Fellow
University of Maine Orono, Maine 04469
MedicalResearch.com: What is the background for this study?
Response: Bioactive compounds such as polyphenols have been documented to have wound healing properties . In the Klimis-Zacas laboratory, phenolic extracts (PE) from wild blueberries (WB) were reported to promote angiogenesis in HUVEC cells via cell migration, angiogenesis, through VEGF/P13K/AKT pathway documented that the PE, primarily composed of chlorogenic acid significantly promoted cell migration and closure speed of wound by 38% above the control as well as angiogenesis and gene expression for proteins critical for cell movement while the anthocyanin fraction inhibited the above processes (5,6).
Ali M. Fazlollahi[/caption]
Ali M. Fazlollahi, MSc, McGill Medicine Class of 2025
Neurosurgical Simulation and Artificial Intelligence Learning Centre
Department of Neurology and Neurosurgery, Montreal Neurological Institute and Hospital
Faculty of Medicine and Health Sciences
McGill University, Montreal, Canada
MedicalResearch.com: What is the background for this study?
Response: COVID-19 disrupted hands on surgical exposure of medical students and academic centres around the world had to quickly adapt to teaching technical skills remotely. At the same time, advances in artificial intelligence (AI) allowed researchers at the Neurosurgical Simulation and Artificial Intelligence Learning Centre to develop an intelligent tutoring system that evaluates performance and provides high-quality personalized feedback to students. Because this is the first AI system capable of providing surgical instructions in simulation, we sought to evaluate its effectiveness compared with learning from expert human instructors who provided coaching remotely.
Dr. Ying-Hui Fu[/caption]
Ying-Hui Fu, PhD
Professor, Neurology
Weill Institute for Neurosciences
UCSF
MedicalResearch.com: What is the background for this study?
Response: Most people are aware that a lack of sleep is associated with all sorts of health issues. However, familial natural short sleeper (FNSS) individuals sleep 4-6.5 hours a night most of their live and stay healthy. We set out to determine whether natural short sleep mutations can offer protection from various diseases. We chose Alzheimer as an example to start.
Dr. Palatini[/caption]
Paolo Palatini, M.D.
Professor of Internal Medicine
University of Padova
Padova, Italy
MedicalResearch.com: What is the background for this study?
Response: Up to now doctors measured blood pressure (BP) on standing only in elderly people on pharmacological treatment with the purpose of detecting orthostatic hypotension. In young-to-middle-age people BP is currently measured only in the lying or the sitting posture.
Our starting point was that young borderline hypertensive people have an increased sympathetic activity and thus they might be hyperreactive to physical stimuli such as assuming the orthostatic posture which may be deleterious in the long run. This hypothesis was tested in the HARVEST, a study initiated in Italy in 1990, in which over 1200 young patients screened for stage 1 hypertension were enrolled.