MedicalResearch.com Interview with:
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Ben Petrazzini[/caption]
Ben Omega Petrazzini, B.Sc.
Associate Bioinformatician
Ron Do Laboratory
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Dr. Ron Do[/caption]
Ron Do, Ph.D.
Professor, Department of Genetics and Genomic Sciences
Director, Center for Genomic Data Analytics
Associate Director in Academic Affairs, The Charles Bronfman Institute for Personalized Medicine
Charles Bronfman Professor in Personalized Medicine
Icahn School of Medicine at Mount Sinai
MedicalResearch.com: What is the background for this study?
Response: Rare coding variants directly affect protein function and can inform the role of a gene in disease.
Discovery of rare coding variant associations for coronary artery disease (CAD) to date have only had limited success. Genetic studies typically use standard phenotyping approaches to classify cases versus controls for CAD. However, this phenotyping approach doesn’t capture disease progression or severity in individuals.
We recently introduced an in-silico score for CAD (ISCAD) that tracks CAD progression, severity, underdiagnosis and mortality (Forrest et al.
The Lancet, 2023, PMID 36563696). ISCAD was built using a machine learning model trained on clinical data from electronic health records (EHR). Importantly, ISCAD is a quantitative score that measures CAD on a spectrum. The quantitative nature of the score provides an opportunity to discover additional rare coding variant associations that may not have been detected with the standard case-control phenotyping approach.
Here in this study, we performed a large-scale rare variant association study in the exome sequences of 604,915 individuals for ISCAD, a machine learning-based score for CAD.
Dr. Patel[/caption]
Rima Patel, MD
Assistant Professor, Division of Hematology/Oncology
The Tisch Cancer Institute
Icahn School of Medicine at Mount Sinai
MedicalResearch.com: What is the background for this study?
Response: The 21-gene Oncotype DX Recurrence Score (RS) and 70-gene MammaPrint (MP) assays provide prognostic information for distant recurrence and are used to guide chemotherapy use in hormone receptor (HR)-positive, HER2-negative early breast cancer (EBC). Previous reports have demonstrated racial differences in the prognostic accuracy of the RS. In both the TAILORx and RxPONDER trials, Black women with low genomic risk (RS 0-25) had a higher recurrence risk than White women. In another study using the NCDB database, 
Dr. Shah[/caption]
Silvi Shah, MD,MS,FASN,FACP
Associate Professor
Internal Medicine | College of Medicine
University of Cincinnati College of Medicine
MedicalResearch.com: What is the background for this study?
Response: AKI (Acute Kidney Injury) is a major contributor to end-stage kidney disease (ESKD).
About a third of patients with ESKD recover kidney function due to AKI. The study looked at the health outcomes of 22,922 patients from the U.S. Renal Data System from 2005 to 2014 to construct a clinical scoring system to predict kidney recovery within 90 days and 12 months after the start of dialysis for kidney failure patients due to acute kidney injury (AKI)
Dr. Kosinski[/caption]
Dr. Larry Kosinski, MD
Gastroenterologist and 
Dr. Alexis[/caption]
Andrew F. Alexis, MD, MPH
Vice-Chair for Diversity and Inclusion
Department of Dermatology
Dermatologist
Center for Diverse Skin Complexions
Weill Cornell Medicine – NY
MedicalResearch.com: What are the main types of skin cancer? Is the incidence changing?
Response: The 3 main types of skin cancer are melanoma, squamous cell carcinoma (SCC) and basal cell carcinoma (BCC). Skin cancer is the most common cancer in the United States1 and 1 in 5 Americans will develop skin cancer in their lifetime. (2)
The overall incidence has changed as follows:
• Melanoma: Rates doubled over past 30 years from 1982 to 2011.3 It differs by age group.
o Adolescents and adults age 30 and younger: incidence rate is declining
o Older age groups (e.g. 80 and older): incidence rate is increasing
• Squamous Cell Cancer:
o Incidence increased 263% between 1976-1984 and 2000-20104
• Basal Cell Cancer:
o Incidence increased 145% between 1976-1984 and 2000-20104
Dr. Parekh[/caption]
Ankit Parekh, PhD
Director of the Sleep And Circadian Analysis (SCAN) Group
Assistant Professor of Medicine
(Pulmonary, Critical Care and Sleep Medicine)
Icahn School of Medicine at Mount Sinai
MedicalResearch.com: What is the background for this study? What are the main findings?
Response: Sleep apnea is associated with incident cardiovascular disease, and is a common chronic condition affecting over a billion people worldwide. In diagnosing and treating sleep apnea, it is imperative to establish the type of sleep apnea—whether it is obstructive or central sleep apnea. The differential contribution of central vs. obstructive sleep apnea toward incidental cardiovascular disease in those with significant sleep apnea has not been well studied.
Our group has developed an automated algorithm that deduces on a breath-by-breath level whether reductions in airflow are predominantly due to obstructive or central phenomena. Our algorithm uses several features that are known to be key in distinguishing the type of events and derives a probability of obstruction across each “small” (reduced amplitude) breath. The breath-by-breath probability is then used to determine whether a patient’s burden of sleep apnea is predominantly obstructive or central.
In this work, we analyzed sleep study data from The Osteoporotic Fractures in Men (MrOS) cohort (N=2793) consisting of elderly men, across two visits separated on average by 6.5 years, and derived the probability of obstruction on a breath-by-breath level. The median probability of obstruction for each subject was computed and analyzed against outcomes of cardiovascular disease. We also assessed the stability of the metric in those without any prevalent cardiovascular disease. We find that median probability of obstruction was stable across the two visits, and those with any incident cardiovascular disease had a lower median probability of obstruction: patients with incident cardiovascular outcomes had a significant burden of sleep apnea that was predominantly “central” in nature.
Dr. Haigh[/caption]
Cathryn Haigh, Ph.D.
In recent years, our communities have faced unprecedented challenges to public health and hygiene, especially after the most recent global pandemic. Beyond the immediate crises, longstanding issues like poor dietary choices and the rising stress levels in people worldwide have further highlighted the critical need for robust health and hygiene practices.
These concerns, while global in scale, demand local solutions—initiatives that begin in our own neighborhoods. Promoting health and hygiene at a community level not only addresses these urgent issues but also sets the foundation for broader national change. This article offers ten tips for anyone eager to lead such transformative efforts within their community, underscoring that even the smallest steps can pave the way to significant health improvements for all.
