Author Interviews, Cancer Research, Genetic Research, JAMA, Personalized Medicine, Vanderbilt / 18.03.2023
Prostate Cancer: Vanderbilt Study Evaluates Clinical Usefulness of Polygenic Risk Score
MedicalResearch.com Interview with:
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Dr. Mosley[/caption]
Jonathan Mosley, MD, PhD
Associate Professor
Division of Clinical Pharmacology
Departments of Internal Medicine and Biomedical Informatics
Vanderbilt University Medical Center
MedicalResearch.com: What is the background for this study?
Response: Prostate cancer is an important source of morbidity and mortality among men. Earlier detection of disease is essential to reduce these adverse outcomes. Prostate cancer is heritable, and many single nucleotide polymorphisms (SNPs) associated with disease risk have been identified. Thus, there is considerable interest in using tools such as polygenic risk scores, which measure the burden of genetic risk variants an individual carries, to identify men at elevated risk of disease.
Dr. Mosley[/caption]
Jonathan Mosley, MD, PhD
Associate Professor
Division of Clinical Pharmacology
Departments of Internal Medicine and Biomedical Informatics
Vanderbilt University Medical Center
MedicalResearch.com: What is the background for this study?
Response: Prostate cancer is an important source of morbidity and mortality among men. Earlier detection of disease is essential to reduce these adverse outcomes. Prostate cancer is heritable, and many single nucleotide polymorphisms (SNPs) associated with disease risk have been identified. Thus, there is considerable interest in using tools such as polygenic risk scores, which measure the burden of genetic risk variants an individual carries, to identify men at elevated risk of disease.
Dr. Tsirigos[/caption]
Aristotelis Tsirigos, Ph.D.
Professor of Medicine and Pathology
Co-director, Precision Medicine
Director, Applied Bioinformatics Laboratories
Dr. Kleiman[/caption]
Norman Kleiman, PhD, MS
Department of Environmental Health Sciences
Mailman School of Public Health
Columbia University, New York, NY
MedicalResearch.com: What is the background for this study?
Response: The 1986 Chornobyl nuclear disaster caused the evacuation of 300,000 persons from the cities and villages surrounding the nuclear power plant complex. Pets and belongings were left behind, and the Soviet authorities ordered all animals within the Chornobyl Exclusion Zone killed. Some dogs evaded destruction, and some 300+ descendants of these animals live primarily at two locations today, immediately surrounding the Nuclear Power Plant (NPP) complex and about 10 km away in Chornobyl city. What is relatively unknown to the general public is that Chornobyl is not a desolate, abandoned wasteland. Some thousands of individuals work there every day in continuing cleanup activities and at two new fuel reprocessing facilities built near the damaged reactor. These areas have been substantially remediated, and the average radiation levels are relatively modest. The dogs, which, while feral, are accustomed to human interaction, live near the workers and are not currently exposed to high radiation levels. In contrast to lower radiation levels, there is a toxic mixture of heavy metals, organics, pesticides, and unknown chemicals left over from years’ long cleanup efforts and the decay of a large former military-industrial complex at the NPP.
Since 2016, the NPP authorities have brought in teams of veterinarians and volunteers to spay, neuter, and vaccinate the dogs to protect the workers and deal with a growing population. At the same time, some scientists joined the teams to obtain various kinds of biospecimens (hair, urine, feces, blood, saliva, parasites) to examine the animals’ health and learn how this toxic environment may have affected them or their offspring. Since dogs are human companion animals and live closely with us, any information we learn about health risks to the dogs may be relevant to protecting human workers and inform us about the kinds of health risks posed by ecological and environmental disasters in the future.
Dr. Roca[/caption]
Anna Roca PhD
MRC Unit The Gambia at the London School of Hygiene and Tropical Medicine
Fajara, The Gambia
MedicalResearch.com: What is the background for this study?
Response: Context specific interventions are needed to decrease the high burden of severe neonatal morbidity and mortality in sub-Saharan Africa. Severe bacterial infections are a main cause of neonatal mortality in the continent. Oral intra-partum azithromycin is a cheap intervention easily scalable. Before embarking on this trial, we conducted a proof-of-concept trial that showed the intervention reduced maternal and neonatal bacterial carriage of the most prevalent bacteria causing neonatal sepsis in the continent.
Dr. Khullar[/caption]
Dhruv Khullar, M.D., M.P.P.
Director of Policy Dissemination
Physicians Foundation Center for Physician Practice and Leadership
Assistant Professor of Health Policy and Economics
Weill Cornell Medicine, NYC
MedicalResearch.com: What is the background for this study?
Response: From prior research, we know that there are racial/ethnic differences in the acute impact of COVID-19, including higher rates of hospitalization and death among Black and Hispanic individuals compared to white individuals. Less is known about whether there are differences in the rates or types of long COVID by race and ethnicity.
Alexia Aguilar[/caption]
Alexia Aguilar
Geisinger Commonwealth School of Medicine
Scranton, PA
MedicalResearch.com: What is the background for this study?
Response: Traditional antidepressants like Zoloft and Lexapro have three major drawbacks.
Dr. Martens[/caption]
Christopher R. Martens PhD
Assistant Professor
Director, Delaware Center for Cognitive Aging Research
Department of Kinesiology & Applied Physiology
University of Delaware
Newark, DE
MedicalResearch.com: What is the background for this study?
Response: One of the main issues with Alzheimer's disease is an impaired ability to make energy in the brain. NAD+ is critically involved in the creation of energy within cells and there is strong evidence that nicotinamide riboside (NR), a precursor to NAD+, can restore brain function in mice that exhibit similar characteristics as people with Alzheimer's disease.
We had previously studied the effects of NR in healthy older adults and wanted to see whether it is even capable of getting into brain tissue. We used remaining blood samples from our original study and measured the amount of NAD+ within tiny "vesicles" in the blood that we are quite confident originated from the brain and other neural tissue
Dr. Stevermer[/caption]
James Stevermer, M.D., M.S.P.H.
Vice chair for clinical affairs
Professor of family and community medicine
University of Missouri
Medical director of MU Health Care Family Medicine–Callaway Physicians,
Dr. Stevermer joined the U.S. Preventive Service Task Force in January 2021.
MedicalResearch.com: What is the background for this study?
Response: Genital herpes is a common sexually transmitted infection (STI) that unfortunately has no cure and cannot accurately be detected in people who do not have signs of the condition. The current screening tests have limitations and there is a high chance that test results will say a person has the condition when they do not. In addition, the available treatments are focused on managing symptoms and preventing the condition from reoccurring. As a result, the Task Force concluded that the harms of screening outweigh the benefits.
Dr. Goodrich[/caption]
Jesse Goodrich PhD
Assistant Professor
Department of Population and Public Health Sciences
Keck School of Medicine
University of Southern California
MedicalResearch.com: What is the background for this study?
Response: Per- and poly-fluoroalkyl substances (PFAS) are a group of persistent chemicals that are known to interfere with hormones and metabolism. In our previous research, we have found that PFAS exposure is associated several specific diseases, especially in children and adolescents. These include obesity, type 2 diabetes, liver disease, and even liver cancer. However, we are still only just starting to fully understand all of the health effects of the many different PFAS in existence. Previous studies have focused primarily on one or two main PFAS. However, there are over 9,000 known PFAS, and people are exposed not just to a single PFAS but to mixtures of many PFAS. Importantly, the combination of these chemical exposures may affect us differently than single exposures alone.
To address this challenge, we used an innovative approach to study design to examine how exposure to PFAS impacts biological processes which may underly the development of many different diseases in adolescents and young adults. To do this, we first measured thousands of naturally occurring chemicals, known as metabolites, in people's blood. Then, using a new biostatistical method developed by our team, we identified how exposure to a mixture of several PFAS impacted each individual chemical. Finally, we used this information to determine which biological processes are changed by PFAS exposure.
Dr. Mahdavi[/caption]
Dr. Sara Mahdavi, PhD
Clinical Scientist and Clinical Instructor
Research Appointment in the Faculty of Medicine
University of Toronto
Toronto, ON
MedicalResearch.com: What is the background for this study?
Response: This was a long-term study spanning 16 years and began with a population of young adults who were medically assessed on a regular basis. It was remarkable to see just how striking the effects of coffee were in the group that had the susceptible genetic variant, what we termed “slow caffeine metabolizers” yet no effect whatsoever in those who did not were termed “fast metabolizers”.
Kenya Colvin[/caption]
Kenya Colvin, MBS
Department of Medical Education
Scranton, PA
MedicalResearch.com: What is the background for this study?
Response: Vaccine hesitancy is a major driver of COVID-19 vaccination disparities between minority and non-Hispanic White communities. Our goal was to understand what factors influenced vaccine hesitancy among individuals in Eastern Pennsylvania to identify more effective ways to promote vaccine uptake within minority communities.
Dr. Pierce[/caption]
Karen Pierce, Ph.D.
Professor, Department of Neurosciences, UCSD
Co-Director, Autism Center of Excellence, UCSD
MedicalResearch.com: What is the background for this study?
Response: The mean age of ASD diagnosis and eventual treatment remains at ~52 months in the United States1 - years beyond the disorder’s prenatal origins2, and beyond the age when it can be reliably diagnosed in many cases3.
Currently the only way to determine if a child has autism spectrum disorder (ASD) is to receive a developmental evaluation from an experienced clinician (usually a licensed clinical psychologist). There are often long waiting lists, and only a small number of clinicians have the experience required to make early-age (i.e., between 12-36 months) diagnoses of ASD. Thus, there are many places in the country as well as world wide wherein children wait months or years to receive a formal diagnosis due to a lack of available expertise. Moreover, diagnostic evaluations are expensive and usually cost the parent and/or insurance approximately ~$2,000 or more per evaluation. Finally, clinical evaluations usually take between 2-3 hours to complete and result in fatigue for both the parent and toddler.
Eye-tracking, which generates biologically-relevant, objective, and quantifiable metrics of both visual and auditory preference profiles in babies and toddlers in just minutes, is a technology that can dramatically change how ASD is diagnosed.
Dr. Zhongshang Yuan[/caption]
Yuan, Zhongshang PhD
Department of Biostatistics
School of Public Health
Shandong University
Jinan, Shandong, China
What is the background for this study?
Response: Comorbidities and genetic correlations between gastrointestinal tract diseases and psychiatric disorders have been widely reported, with the gut-brain axis (GBA) hypothesized as a potential biological basis. However, it is unclear the degree to which the shared genetic determinants contribute to these associations underlying GBA.
