Aging, Author Interviews, Emergency Care, Lifestyle & Health, Orthopedics / 26.04.2023

MedicalResearch.com Interview with: Ridge Maxson M.D. Candidate, Class of 2024 Johns Hopkins University School of Medicine MedicalResearch.com: What is the background for this study? What are the main findings? Response: Dog walking is an increasingly popular mode of physical activity for adults in the US, but its injury burden and associated risk factors are not fully understood. This study found that the 3 most common injuries sustained by adult dog walkers in the US were finger fracture, TBI, and shoulder sprain or strain. Dog walking-related injuries sent approximately 423,000 adults to US EDs between 2001 and 2020, with an annual average of more than 21,000 visits. During that 20-year period, the estimated annual injury incidence increased by more than 4-fold. Among injured dog walkers, older adults and women were particularly vulnerable to serious injury, such as fracture and TBI. (more…)
Author Interviews, Duke, OBGYNE / 26.04.2023

MedicalResearch.com Interview with: TEAM FEMTECH Feng Yi Low, MD student (Class of 2024), Duke-NUS Medical School Casey Ang Fann Ting, Biomedical Engineering student, College of Design and Engineering, National University of Singapore (NUS) Anar Sanjaykumar Kothary, MBA student, NUS Business School   MedicalResearch.com: What is the background for this innovation? What is the problem you sought to mitigate? Response: A safe and low cost solution to reduce the incidence of moderate to severe vaginal tears during childbirth. Vaginal tears are a serious complication during delivery. 90% of women will experience it during childbirth. It is even more prominent in the Asian context as Asian women are 74% more likely to experience tearing due to various factors such as their skin composition as well as stature to name a few. (more…)
Author Interviews, Breast Cancer, JAMA, Race/Ethnic Diversity / 25.04.2023

MedicalResearch.com Interview with: Mahdi Fallah, MD, PhD Study and Group Leader Risk Adapted Prevention (RAD) Group Division of Preventive Oncology National Center for Tumor Diseases (NCT) German Cancer Research Center (DKFZ) Heidelberg, Germany   MedicalResearch.com: What is the background for this study? Response: Breast cancer is a significant public health problem, being the most commonly diagnosed cancer and the second leading cause of cancer death in women in the US. Breast cancer screening from age 50 has been associated with a reduction in mortality and is recommended by the US Preventive Services Task Force. However, there is a significant disparity in mortality rates between Black and White individuals, with Black women having a higher death rate, especially before age 50. The current one-size-fits-all policy for breast cancer screening may not be equitable or optimal, and risk-adapted starting ages of screening based on known risk factors, such as race and ethnicity, may be recommended to optimize the benefit of screening. Our study aimed to provide evidence for a risk-adapted starting age of screening by race and ethnicity. (more…)
Author Interviews / 25.04.2023

MedicalResearch.com Interview with: Mariah W Panoussi, BS, MBS Second-year medical student at Saba University School of Medicine, Saba, Dutch Caribbean Department of Medical Education Geisinger Commonwealth School of Medicine Scranton, PA MedicalResearch.com: What is the background for this study? Response: Clinical guidelines currently state that the atypical antipsychotic clozapine effectively treats patients with treatment-resistant schizophrenia (TRS) 1. TRS occurs in up to one-third of patients with schizophrenia.2,3 However, there is evidence that demonstrates a lack of clozapine utilization by providers.2 This underutilization has been attributed to clozapine’s numerous adverse effects, in particular agranulocytosis.4 Other barriers include close monitoring for agranulocytosis, changes in administration and registry programs, as well as concerns regarding physician’s attitude toward and knowledge about clozapine.4,5 These barriers have thus caused a sizable variation in clozapine usage throughout the US. Using Medicaid data from 2015-2019, we conducted a secondary data analysis to examine the varied usage of clozapine in the US Medicaid programs.6 (more…)
Author Interviews, Urinary Tract Infections, Urology / 24.04.2023

MedicalResearch.com Interview with: Dr Jacqueline Stephens MPH, PhD Epidemiologist &  Senior lecturer Flinders University MedicalResearch.com: What is the background for this study? What are the main findings? Response: An increase in the volume of evidence published in the peer-reviewed literature on this topic prompted an update of this Cochrane Review. (more…)
Author Interviews, COVID -19 Coronavirus, Herpes Viruses, HIV, HPV, Infections, STD / 24.04.2023

MedicalResearch.com Interview with: Manoj Gandhi, MD PhD Senior Medical Director of Genetic Testing Services, Thermo Fisher Scientific. Dr. Gandhi has been working to advance the quality of medical care globally. Using his knowledge of Clinical Medicine and Molecular Biology/Pathology, he is focused on bridging these two fields and bringing innovative solutions that help advance science, the practice of medicine with the ultimate goal of impacting patient lives, whether it be in Infectious Diseases or Oncology or Personalized Medicine. This approach allows him to explore creative ways to utilize technology to help better identify diseases and improve the direction and value of treatment. MedicalResearch.com: What are the most common STIs prevalent in the US and worldwide today? Response: By far, the most common STIs in the US and worldwide is Human Papillomavirus (HPV) that can cause cervical cancer in women and Herpes Simplex Virus (HSV) that is the cause of genital herpes. Outside of these two major causes of STI, the others that are very common are Chlamydia, Gonorrhea, Trichomoniasis and Syphilis. It is important to note that the reported cases represent only a subset of the individuals with an infection as many may be asymptomatic and could be spreading these STIs to others. HIV is another STI that is common but usually rests in its own category due to its impact. (more…)
Author Interviews, Neurological Disorders, Parkinson's / 24.04.2023

MedicalResearch.com Interview with: Alberto J. Espay, MD, MSc, FAAN Professor of Neurology Director and Endowed Chair Gardner Family Center for Parkinson's disease and Movement Disorders University of Cincinnati Academic Health Center MedicalResearch.com: What is the background for this study? Response: This study was meant to address the gap that current oral levodopa formulations do not suffice to lessen motor fluctuations in people with Parkinson’s disease. IPX203 is a unique extended-release formulation of levodopa. (more…)
Author Interviews, Cancer Research, JAMA, NCI, Ovarian Cancer / 21.04.2023

MedicalResearch.com Interview with: Lauren Hurwitz, PhD Postdoctoral Fellow Division of Cancer Epidemiology & Genetics National Cancer Institute MedicalResearch.com: What is the background for this study? What are the main findings? Response: Prior studies have demonstrated that frequent (i.e., daily or near daily) use of aspirin is associated with a lower risk of developing ovarian cancer. We sought to determine if this risk reduction is also observed for individuals with greater genetic susceptibility to ovarian cancer, who may benefit more from preventive interventions. Our study found that individuals who took aspirin frequently had a lower risk of ovarian cancer, regardless of whether they had higher or lower genetic susceptibility to ovarian cancer. (more…)
Author Interviews, Genetic Research, PNAS, UCSD / 20.04.2023

MedicalResearch.com Interview with: Chinmay Kalluraya a Selma and Robert Silagi Award for Undergraduate Excellence winner UC San Diego and now a graduate student at MIT and Matt Daugherty  Ph.D Associate Professor University of California, San Diego Department of Molecular Biology, School of Biological Sciences La Jolla CA, 92093-0377 MedicalResearch.com: What is the background for this study? Would you explain the role of retinoid-binding protein? eye, visionResponse: We were broadly interested in discovering instances of bacterial genes that have been acquired by diverse animal genomes over millions of years of evolution by the process of horizontal gene transfer (HGT). Since these events are quite rare and most previous discoveries have been serendipitous, we developed computational methods to identify genes acquired by HGT in animals. One of the exciting discoveries from our work was that vertebrate IRBP appeared to have originated in bacteria and is now a critical component of the vertebrate visual cycle, so this paper focuses on that one discovery. IRBP or interphotoreceptor retinoid binding protein is an important protein present in the space between two major cell types in our eyes, photoreceptor cells and RPE cells. Our ability to see involves an intricate set of steps where light is first sensed by causing a change (isomerization) in the chemical structure of molecules in the eye called retinoids. This sensing of light occurs in our photoreceptor cells. Following this change in the chemical structure, the retinoid needs to be recycled back to the chemical structure that can again sense light. This recycling occurs in RPE cells. IRBP performs the essential function of shuttling retinoids between the photoreceptors and the RPE cells, which allows the cycle of sensing and regeneration to work. Supporting its importance, mutations in IRBP (also known as retinol binding protein 3 or RBP3) can cause several severe human eye diseases. (more…)
Author Interviews, Education, Pediatrics / 19.04.2023

MedicalResearch.com Interview with: Larissa K. Samuelson, PhD Professor Developmental Dynamics Lab     School of Psychology; UK 14th for Research Quality Psychology, Psychiatry, and Neuroscience University of East Anglia, United KingdomLarissa K. Samuelson, PhD Professor Developmental Dynamics Lab School of Psychology; UK 14th for Research Quality Psychology, Psychiatry, and Neuroscience University of East Anglia, United Kingdom MedicalResearch.com: What is the background for this study? Response: Words direct the attention of infants, children and adults to mentioned objects in the environment. When someone says “Can you find the candy,” you look to the candy sitting on the counter. This fact is the basis of many tests of infant cognition in laboratories. To find out if a child knows the word “bike” we put a picture of a bike and a truck on a TV screen, say the word “bike” and see if they look at the correct object. There is also evidence that words can direct attention even if you don’t know what they mean yet. For example, in studies of learning in the lab novel made up words like “modi” can direct children’s attention to specific features of objects. One particular example of this is the “shape bias”. If a two-year-old is shown a novel object and told a novel name, for example “This is my blicket,” and then asked, “Can you get your blicket” and shown one object that matches the named one in shape and another that is made from the same material, they will attend to the one that matches in shape. Researchers think the naming event “This is my…” cues children to look at things that are the same shape because they already know many names for things in sets that are similar in shape; cups are all cup-shaped, keys are all key-shaped, spoons are all spoon-shaped, etc. Prior research suggests there may be differences in the way children who struggle with language decide what a new word means. For example, children with Developmental Language Disorder do not pay attention to the same things when learning new words as children with typical language development. These children do not look to an object that matches a named exemplar in shape when asked to “get your blicket”. But you can’t diagnose children with DLD until they are 3 or 4. We want to see if we can identify these children earlier, so they can get early support. (more…)
AACR, Author Interviews, Cancer Research / 18.04.2023

MedicalResearch.com Interview with: Matthew H. Taylor, MD Earle A. Chiles Research Institute Providence Cancer Institute Portland, OR MedicalResearch.com: What is the background for this study? What is the importance of ILT4 or LILRB2 in tumor growth?
  1. ILT4, also known as LILRB2, is expressed on myeloid cells, including monocytes, DCs, macrophages and neutrophils. LILRB2 expressing myeloid cells promote tumor immune evasion and contribute to anti-PD1 resistance, making this a promising target to reverse myeloid-mediated immune suppression in the TME.
  2. IO-108 is a fully human IgG4 therapeutic antibody that binds to LILRB2 with high affinity and specificity, and blocks binding of LILRB2 to multiple cancer-relevant ligands. This blockade causes re-programming of immune suppressive myeloid cells to pro-inflammatory in the tumor microenvironment leading to the activation of T cells.
  3. This first-in-human, open-label Phase 1 study of IO-108 as monotherapy or in combination with pembrolizumab was designed to learn about safety, tolerability and preliminary efficacy of IO-108 as monotherapy or in combination with a PD-1 inhibitor in patients with advanced, metastatic solid tumors. The study was also designed to find a dose of IO-108 that is safe and efficacious to be tested in patients with various solid tumors.
(more…)
ADHD, Author Interviews, JAMA, Pediatrics, University of Michigan / 18.04.2023

MedicalResearch.com Interview with: Sean Esteban McCabe, PhD Director, Center for the Study of Drugs, Alcohol, Smoking and Health Department of Health Behavior and Biological Sciences University of Michigan School of Nursing Ann Arbor, MI MedicalResearch.com: What is the background for this study? Response: Prescription stimulant therapy for ADHD helps millions of people, including in my own family, and students, friends and colleagues. It's critical to balance the need for access to these medications while reducing the risk for misuse. This is more important than ever now because there have been recent increases in the prescribing of stimulant therapy for ADHD. There is a need to understand the prevalence of stimulant therapy for ADHD and prescription stimulant misuse in U.S. middle and high schools. (more…)
Author Interviews / 13.04.2023

Medicalresearch.com Interview with: Edward Liu, BA Second year medical student Department of Medical Education Geisinger Commonwealth School of Medicine Scranton, PA Medicalresearch.com: What is the background for this study? Response: The United States’ opioid epidemic continues to rise because of increasing opioid use and availability, contributing to prescription opioid misuse, mortality, and rising cost.1 The worsening health and economic impact of opioid use disorder in the US warrants further attention on the adverse effects and distribution pattern of commonly prescribed opioids like oxycodone (OxyContin), fentanyl (Duragesic), and morphine (MS-Contin). Using the Automated Reports and Consolidated Ordering System (ARCOS) database,2 a comprehensive data collection system of pharmacies and hospitals distribution of Schedule II and III controlled substances in the US with the FDA Adverse Event Reporting System (FAERS)3 has never been done before. This approach may provide a more complete picture of the risks of prescription opioids which can include drowsiness, nausea, and potentially fatal respiratory depression.  (more…)
Author Interviews, Prostate Cancer / 05.04.2023

MedicalResearch.com Interview with: Freddie C. Hamdy FRCS, FMedSci Nuffield Professor of Surgery, University of Oxford Jenny L. Donovan PhD, FMedSci Professor of Social Medicine, University of Bristol     MedicalResearch.com: What is the background for this study? Response:  Prostate cancer is a common malignancy in men. Prostate cancer diagnosis is made largely through opportunistic screening with a PSA (Prostate Specific Antigen) blood test, followed by prostate biopsies. The ProtecT study, funded by the National Institute for Health and Care Research in the UK, is the largest randomised trial of treatment in screen-detected localised prostate cancer. The study began by testing 82,429 men between the ages of 50 and 69 years, across nine UK centres with a PSA blood test, followed by biopsies of the prostate if the PSA level was elevated. 2,664 men with clinically localised prostate cancer were found. From these, 1,643 (62%) agreed to be randomised to Surgery (radical prostatectomy to remove the prostate gland), Radiotherapy (external beam with a period of hormone treatment beforehand), or Active Monitoring (where men received regular checks and further investigations, with change to radical treatment as necessary). The men were carefully followed up for an average of 15 years. In parallel, the side-effects of treatments and quality of life of these men was investigated using patient-reported outcomes included in an annual study questionnaire completed for at least 12 years. (more…)
Alzheimer's - Dementia, Author Interviews, Brigham & Women's - Harvard, Gender Differences, JAMA, Menopause / 03.04.2023

MedicalResearch.com Interview with: Rachel Buckley, PhD ​Assistant Professor Department of Neurology Massachusetts General Hospital/Harvard Medical School MedicalResearch.com: What is the background for this study? Response: While a fair amount of studies have focused on the effects of menopause and hormone therapy on risk of dementia, far fewer studies have tested their association with the biology of Alzheimer’s disease, namely amyloid and tau. This is critical to know given that it still remains unclear what might be the driving mechanism of the menopause transition on risk for dementia. This is what our study set out to investigate. This study is one of the first to report a link between women’s age at menopause and tau in the brain, which we measured with positron emission tomography neuroimaging. We found that in multiple areas of the brain that tend to be most likely to show higher tau in women than men, women with earlier age at menopause and elevated levels of amyloid showed higher levels of tau than those who reported an average age at menopause (~50 years in the United States). Women who reported premature menopause (<40 years at menopause onset) exhibited a much higher risk of tau in the brain. This supports the notion that longer exposure to estrogen throughout life might be protective against Alzheimer’s disease. (more…)
Author Interviews, Genetic Research, Neurological Disorders, Novartis / 29.03.2023

MedicalResearch.com Interview with: Sitra Tauscher-Wisniewski, MD Vice President Clinical Development & Analytics Novartis Gene Therapies MedicalResearch.com: What is the background for this study? Would you briefly describe the condition of Spinal muscular atrophy (SMA)? Response: At the 2023 Muscular Dystrophy Association Conference, we presented new data from two of our  Long-Term Follow-Up (LTFU) studies, LT001 and LT002, which show the continued efficacy and durability of Zolgensma across a range of patient populations, with an overall benefit-risk profile that remains favorable. LT001 is a 15-year ongoing observational LTFU study following the Phase 1 START patients, who were the very first patients to receive our gene replacement therapy. LT-002 is a voluntary Phase 4 15-year ongoing follow-up safety and efficacy study of Zolgensma IV and investigational intrathecal (IT) OAV101 in patients previously treated in the Phase 3 IV studies (STR1VE-US, STR1VE-EU, STR1VE-AP, SPR1NT) and the Phase 1 IT study (STRONG). Spinal muscular atrophy (SMA) is a rare, devastating genetic disease that leads to progressive muscle weakness, paralysis, and when left untreated in one of its most severe forms (SMA Type 1), permanent ventilation or death in 90% of cases by age 2. It is caused by a lack of a functional survival motor neuron 1 (SMN1) gene, and in the most severe forms results in the rapid and irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement. (more…)
Addiction, Author Interviews, Genetic Research, Nature / 29.03.2023

MedicalResearch.com Interview with: Alexander S. Hatoum, PhD Research Assistant Professor Institute for Behavioral Genetics Washington University in St. Louis     MedicalResearch.com: What is the background for this study? Response: It is well known that someone with one substance use disorder will have another sometime in their lifetime or concurrently.  Further, individuals that do manifest two or more substance use disorders in their lifetime have the most morbid conditions. However, research often ignores the comorbidity and focuses on diagnosis of one substance use disorder at a time (i.e. opioid use disorder or alcohol use disorder). We set out to identify the biology behind the cross-substance liability. (more…)
Author Interviews, Critical Care - Intensive Care - ICUs, JAMA / 29.03.2023

MedicalResearch.com Interview with: Kelly Potter, PhD, RN, CNE T32 Postdoctoral Scholar CRISMA Center, Department of Critical Care Medicine University of Pittsburgh MedicalResearch.com: What is the background for this study? Response: While it is well-recognized that survivors of critical illness often experience persistent problems with mental, cognitive, and physical health, very little is known about how these problems (collectively known as post-intensive care syndrome (PICS)) affect resumption of meaningful activities, such as driving. (more…)
Annals Internal Medicine, Author Interviews, CDC, Infections / 29.03.2023

MedicalResearch.com Interview with: Dr. Meghan Lyman MD Medical Officer in the Mycotic Diseases Branch CDC MedicalResearch.com: What is the background for this study? Response: Candida auris (C. auris) is a fungus considered an urgent public health threat because it is often multi-drug resistant and spreads easily in healthcare settings.  CDC has been conducting tracking cases and is concerned about increasing numbers and geographic spread of C. auris cases in recent years, suggesting increased transmission.  Because C. auris cases and resistance are rising in the U.S., immediate public health actions to stop this threat are critical. (more…)
Author Interviews, Immunotherapy, Rheumatology / 29.03.2023

MedicalResearch.com Interview with: Siri Lillegraven MD MPH PhDVice director, REMEDY Center for treatment of Rheumatic and Musculoskeletal Diseases Leader, Unit for Clinical Research, Diakonhjemmet HospitalAssociate professor, Institute of Health and Society, Faculty of Medicine University of Oslo   MedicalResearch.com: What is the background for this study? Response: Rheumatoid arthritis, or RA, is a chronic disease, with joint inflammation as the primary manifestation. Due to advances in RA therapy and care, an increasing number of patients achieve sustained remission without joint damage progression and functional loss. For these patients, dose-reduction of disease modifying anti-rheumatic drugs (DMARDs), or complete withdrawal of therapy could be favorable due to potential reductions in adverse events, burden of taking medication, and healthcare costs. Current treatment recommendations suggest that tapering of conventional synthetic DMARDs could be considered in patients in sustained remission, but there is a lack of data to guide treatment decisions. (more…)
Author Interviews, Biomarkers, Cancer Research, Genetic Research / 27.03.2023

MedicalResearch.com Interview with: Florence Le Calvez-Kelm, Ph.D. Genomic Epidemiology Branch International Agency for Research on Cancer Lyon, France and Trevor Levin Ph.D. Founder and CEO of Convergent Genomics that produces the Uroamp assay San Francisco, CA     MedicalResearch.com: What is the background for this study? Response: Bladder cancer is one of the most expensive and challenging to diagnose and treat. Therefore, identifying cost-effective urine bladder cancer biomarkers to complement or replace the gold-standard invasive and costly cystoscopy for the early detection and monitoring of this highly recurrent disease is crucial. At the international Agency for research on Cancer (IARC-WHO), we have developed a simple urine-based assay TERT promoter mutations, the most common mutations in bladder cancer, and showed that the urine biomarker could detect bladder cancer patients at diagnosis but many years prior to clinical diagnosis. However, in this study, we wanted to see whether a more comprehensive genomic profiling of urine samples collected years prior to clinical diagnosis of bladder cancer could identify even more patients before they develop any symptoms. The study was based on the UroAmp test, a general urine test that identifies mutations in 60 genes, developed by the Oregon Health Science University spin out company, Convergent Genomics. Drawing on previous research to identify genetic mutations linked to bladder cancer, the research team narrowed the new test down to focus on mutations within just ten genes. Working with colleagues from the Tehran University of Medical Sciences in Iran, they trialled the potential new test using samples from the Golestan Cohort Study, which has tracked the health of more than 50,000 participants over ten years, all of whom provided urine samples at recruitment. Forty people within the study developed bladder cancer during that decade, and the team were able to test urine samples from twenty-nine of them, along with samples from 98 other similar participants as controls. (more…)
Addiction, Author Interviews, CDC, PLoS, Race/Ethnic Diversity, UCLA / 23.03.2023

MedicalResearch.com Interview with: Maria-Rita D'Orsogna Ph.D. Professor, Mathematics California State University, Northridge Adjunct Associate Professor Department of Computational Medicine at UCLA MedicalResearch.com: What is the background for this study? Response: Drug overdose deaths have been increasing in the USA for the past two decades. A ‘third wave’ of overdose fatalities started in 2013, with a shift from prescription opioids towards synthetic ones, in particular illicit fentanyl. To examine trends in drug overdose deaths by gender, race and geography in the United States during the period 2013-2020, we used an epidemiological database provided by the Centers for Disease Control and Prevention, extracting rates by race and gender in all 50 states plus the District of Columbia. We considered the impact of four main drug categories psychostimulants with addiction potential such as methamphetamines; heroin; prescription opioids and synthetic opioids such as fentanyl and its derivatives. (more…)
Author Interviews, Cancer Research, Immunotherapy, Melanoma, Science, UT Southwestern / 22.03.2023

MedicalResearch.com Interview with: Andrew Y. Koh, M.D. Associate Professor, Pediatrics and Microbiology University of Texas Southwestern Medical Center Director of Pediatric Cellular and ImmunoTherapeutics Program University of Texas Southwestern Medical Center and Children's Health MedicalResearch.com: What is the background for this study? Response: We asked the basic question how does a bacteria in your gut help your immune system fight a cancer outside the gut (extraintestinal tumor).  Based on work that our group and others have published in the infectious diseases, microbiology, and inflammation fields, we knew that certain conditions (e.g. inflammation, infection) promote gut microbiota to move from the gut to the mesenteric lymph nodes.  So we hypothesized that immune checkpoint therapy (which essentially induces inflammation to promote tumor killing) might induce gut microbiota translocation to the mesenteric lymph nodes and that this might be the first step by which gut bacteria can engage with host immune cells.  (more…)
Author Interviews, Blood Pressure - Hypertension, Environmental Risks / 22.03.2023

MedicalResearch.com Interview with: Kazem Rahimi FRCP, DM, MSc, FESC Professor of Cardiovascular Medicine and Population Health University of Oxford Consultant cardiologist Oxford University Hospitals NHS Trust   MedicalResearch.com: What is the background for this study? Response: The prevalence of hypertension has been rising worldwide. To mitigate the burden, identifying the modifiable environmental risk factors of hypertension and developing preventive interventions constitute important public health priorities. Despite the biological plausibility of the link between road traffic noise and the risk of hypertension, the quality of relevant evidence has been low, and the role of air pollution has been uncertain. (more…)
Author Interviews, Genetic Research / 21.03.2023

MedicalResearch.com Interview with: Ernest Turro, PhD Associate Professor Genetics and Genomics Sciences The Turro group runs a research program on statistical genomics, with a dual focus on rare diseases and blood-related traits at the Icahn School of Medicine Mount Sinai Health System   MedicalResearch.com: What is the background for this study? Would you describe the Rareservoir database? Response:   The main motivation for our work is that only half of the approximately 10,000 catalogued rare diseases have a resolved genetic cause (or aetiology). Patients with these diseases are unable to obtain a genetic diagnosis which could otherwise inform prognosis, treatment for themselves and affected relatives. One route towards resolving the remaining aetiologies is to enroll large numbers of rare disease patients into research studies so that statistical analyses can be performed comparing the genetic with the clinical characteristics of the study participants. One major endeavour, the 100,000 Genomes Project (100KGP), sequenced the genomes and collected clinical phenotype data for 34,523 UK patients and 43,016 unaffected relatives across 29,741 families. The scale of this study is unprecedented, partly thanks to the ever-decreasing cost of DNA sequencing (25 years ago, it cost $1bn to sequence a whole genome, while now it costs only a few hundred dollars). Working with such large datasets is notoriously cumbersome. To overcome this, we developed a computational approach (the Rareservoir) that distills the most important information into a relatively small database, allowing us to apply our statistical methods nimbly. We noted that the "genetic variants" that cause rare diseases are typically kept rare in the human population by natural selection because affected individuals tend to have few children, if any. This meant that we could discard the genetic information corresponding to variants that are common in the human population without throwing away the key disease-causing variants. By focussing on these "rare variants", we were able to perform our analyses using a small database (a `Rareservoir’), only 5.5GB in size, hastening our progress significantly. (more…)
Author Interviews, Exercise - Fitness, Mental Health Research / 20.03.2023

MedicalResearch.com Interview with: Dr Helen Keyes  PhD, AFBPsS, SFHEA Head of School  Psychology & Sport Science Anglia Ruskin University Cambridge MedicalResearch.com: What is the background for this study? What types of sporting events? Response: The data were collected as part of a large government study looking at a range of measures on health and activities across the UK population. Our study honed in on aspects of wellbeing – life satisfaction, loneliness, happiness, anxiety, a sense that life is worthwhile – as well as whether participants had attended a live sporting event in the last year. The data collected did not differentiate between different types of sport – the positive effects that we report for wellbeing are population-wide across a whole range of sports, from attending a local football match all the way up to elite sporting events. (more…)
Author Interviews, Cancer Research, Genetic Research, JAMA, Personalized Medicine, Vanderbilt / 18.03.2023

MedicalResearch.com Interview with: 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. (more…)
Author Interviews, Gastrointestinal Disease / 17.03.2023

MedicalResearch.com Interview with: Richard E. Moses, D.O., J.D. Gastroenterologist, Associate Vice President, Mirikizumab Indication Lead Global Medical Affairs, Eli Lilly and Company MedicalResearch.com: What is the background for this study? Would you briefly describe how mirikizumab works in UC?  Response: First, this study specifically evaluated mirikizumab, a humanized IgG4 monoclonal antibody that selectively targets the p19 subunit of IL-23 and inhibits the IL-23 pathway. Inflammation due to over-activation of the IL-23 pathway plays a critical role in the pathogenesis of UC. Regulatory decisions for mirikizumab as a potential treatment for adults with moderately to severely active UC in the U.S., E.U and other countries around the world are expected in 2023. If approved, mirikizumab has the potential to be the only UC treatment that selectively targets the p19 subunit of IL-23. Gastroenterologists today benefit from having data from a range of endpoints, which can help them determine appropriate treatment options depending on their specific patients' needs and symptoms. In addition to clinical response and clinical remission – which are often used to determine the effectiveness of a treatment – we can also use combined endpoints like histologic-endoscopic mucosal improvement (which gauges remission and treatment effectiveness), histologic-endoscopic mucosal remission (the reduction of underlying inflammation visible endoscopically) and inflammatory biomarkers faecal calprotectin (fCal) and C-reactive protein (CRP) to inform our treatment strategies. This analysis focused on patients treated with mirikizumab from the induction study who received intravenous mirikizumab every 4 weeks until Week 12 (LUCENT-1), and patients who responded to mirikizumab during 12-week induction period who were re-randomized for the maintenance period, receiving subcutaneous mirikizumab every four weeks up to Week 40 (LUCENT-2) for 52 weeks of continuous treatment. This study explored the relationship between achieving histologic-endoscopic mucosal improvement (HEMI), histologic-endoscopic mucosal remission (HEMR) and improvement of biomarkers fCal and CRP levels at Weeks 12 and 52. (more…)