Health and Medicine
Identifying the cause of an illness in a sick baby or child is not always easy, particularly if the disease is rare. Throughout his career, Dr Michael Wangler, at the Baylor College of Medicine and Jan and Dan Duncan Neurological Research Institute, has investigated rare childhood diseases. Combining his expertise in paediatrics and genetics, Dr Wangler utilises genomics, metabolomics and the humble fruit fly to identify the genes responsible for rare and undiagnosed diseases to improve both diagnosis and treatment.
Radiation therapy is an effective and widely used method of treating cancer, and as with any treatment, it is essential to get the right dose. However, Dr Stephen Kry from The University of Texas MD Anderson Cancer Center has found widespread errors in the systems that calculate the doses patients receive. Through his research, he has helped to identify where these errors occur, how common they are, and provide possible solutions. He hopes that his work will go on to improve the quality and efficacy of radiotherapy for many cancer patients.
Dr Peter Bretscher – A Substantiated Framework for the Prevention and Treatment of Immune System-Related Diseases
Immunity is generated normally against invaders, such as viruses and cancer cells, but not against parts of the body to which the immune system belongs. In 1970, Dr Peter Bretscher and Dr Melvin Cohn proposed a theory to account for how this is achieved. Importantly, immune responses against invaders can take one of two main forms, and Dr Bretscher (currently at the University of Saskatchewan) also proposed an explanation for how the choice of immunity is made. These two proposals are supported by diverse findings. Here, we outline and justify these proposals and explain how they lead to strategies to prevent and treat diverse diseases.
Dr Lakshmi Mahadevan – Mental Health First Aid: Bridging the Gap between Rural Communities and Access to Care
In the USA, poor mental health and opioid addiction are prominent and widespread. With a lack of understanding and resources in many rural areas in Texas, many people facing mental health and addiction challenges do not know where to turn. Dr Lakshmi Mahadevan at Texas A&M AgriLife Extension Service is helping to train up rural communities in Mental Health First Aid (MFHA) so that they can provide better care for those in need.
Dr Y-H Taguchi – In Silico Drug Discovery for COVID-19 Using an Unsupervised Feature Extraction Method
In silico drug discovery is useful for screening and identifying large numbers of drug candidate compounds in a way that is not possible using classical experimental approaches. Dr Y-H Taguchi at Chuo University, Japan, has developed a computational technique known as ‘tensor decomposition-based unsupervised feature extraction’. He has successfully applied this as an in silico phenotype-based drug discovery method to repurpose known drugs for severe acute respiratory syndrome coronavirus 2 and has successfully identified various known anti-viral drugs as viable candidates for the successful treatment of COVID-19.
Dr W. Kent Anger | Dr Fayssal M. Farahat | Dr Pamela J. Lein | Dr Diane S. Rohlman – Establishing the Neurotoxic Impact of Chlorpyrifos Exposure in Workers
Chlorpyrifos (CPF) is one of the most commonly used pesticides in the world. Agricultural workers in Egypt have relatively high levels of exposure to it when working in the cotton fields but until now, the neurotoxic impact of this has been uncertain due to a lack of evidence linking CPF dose and neurotoxicity. Dr W. Kent Anger, Dr Fayssal M. Farahat, Dr Pamela J. Lein and Dr Diane S. Rohlman have brought together their respective research expertise to collaborate on this issue. Their findings have the potential to greatly improve the long-term health of employees working with pesticides.
Human immunodeficiency virus (HIV) touches the lives of millions of people all over the world. Successful antiretroviral drugs allow patients to live longer and healthier lives, without the threat of acquired immunodeficiency developing. However, as with all viruses, HIV can mutate and become resistant to once-effective therapies. Dr Eric Freed at the USA’s National Cancer Institute focuses on elucidating the late stages of HIV replication and how the virus becomes resistant to antiretroviral drugs. His promising results are paving the way for developing new drugs that can combat HIV drug resistance.
Dr Joseph Jerry – Variation in DNA Repair Mechanisms Can Influence Effects of Oestrogen and Environmental Chemicals on Breast Cancer Susceptibility
All women are exposed to oestrogen from puberty through menopause. Oestrogen is a natural hormone that is important for breast development and the maintenance of tissues in women but is also linked to an increased risk of breast cancer. As many as 1 in 8 women in the USA will be diagnosed with breast cancer over their lifetime, and the majority of these breast cancers are sensitive to oestrogen. Dr Joseph Jerry and his collaborators at the University of Massachusetts are studying the environmental exposures and genetic differences that alter the consequences of exposure to oestrogens.
Professor Gemmy Cheung – The Translational Asian Age-related Macular Degeneration Program: Improving Age-related Macular Degeneration Outcomes
Age-related macular degeneration (AMD) is an increasingly common disease that causes significant visual impairment. The implications include socioeconomic burdens for individuals and the population as a whole. Working to elucidate the issues surrounding AMD is Professor Gemmy Cheung, who holds senior roles at the Singapore National Eye Centre and the Singapore Eye Research Institute. She has brought together a group of expert scientists to form the Translational Asian Age-Related Macular Degeneration Program. The team is elucidating the mechanisms behind AMD to develop novel therapies, cultivate diagnostics and develop tools to better understand the impact of the disease from patients’ perspective.
Dr Robert Dolin | Dr Srikar Chamala | Dr Gil Alterovitz – vcf2fhir: Bridging the Gap Between Genomics and Healthcare
On molecular scales, the responses of our bodies to particular medical treatments are deeply engrained in our unique genetic codes. Yet so far, the advanced computer science technologies used to study patient responses and molecular-scale mechanisms have remained entirely independent from each other. Now, Dr Robert Dolin of Elimu Informatics, Dr Srikar Chamala at the University of Florida, and Dr Gil Alterovitz at Brigham and Women’s Hospital, address this issue through vcf2fhir: a resource capable of converting between the file formats used by both fields. Through future improvements, his team’s approach could soon transform the ways in which crucial clinical decisions are made.
Dr Robyn S. Klein – Regulation and Loss of Neuroprotection in Viral and Autoimmune Diseases of the Central Nervous System
Viral and autoimmune diseases of the central nervous system (CNS) are often characterised by the onset of inflammation leading to neurological dysfunction, including impairment to memory and other cognitive domains. Dr Robyn S. Klein at the Washington University School of Medicine in St. Louis, leads a team that specialises in neuroinflammatory diseases of the CNS. In recent years, they have investigated the regulation of blood-brain barrier permeability in autoimmune diseases and viral infections with pathogens such as the West Nile virus.
Every year, approximately 700,000 new diagnoses of squamous cell carcinoma, a type of skin cancer, are reported to dermatologists in the USA alone, constituting the second most common form of cancer. Treating pre-cancerous skin cells with a therapeutic topical cream could significantly reduce the number of harmful cells, potentially inhibiting the growth of squamous cell carcinoma. Dr John T. Seykora and his team from the University of Philadelphia have been researching the biology of skin squamous cell carcinoma and related precursor lesions to identify new therapeutic targets that could be treated using topical approaches with exciting results.
Damage and disease of the cornea are some of the leading causes of sight loss. This can often be remedied is through a transplant with a healthy cornea from a donor. However, donors are few and far between, so innovative solutions are required. Dr Zi-Bing Jin from the Beijing Institute of Ophthalmology in China is working on this with some exciting results. Utilising specific small molecules to control cell differentiation, he has discovered a new method for creating the necessary cells for corneal transplant, without the need of a cornea donor.
Dr Simon Graham – Making Magnetic Resonance Imaging Examinations Safer for Patients with Deep Brain Stimulation Implants
Deep brain stimulation (DBS) is an increasingly popular treatment for abnormal brain circuits found in epilepsy, obsessive-compulsive disorder, Parkinson’s disease and other conditions. Magnetic resonance imaging (MRI) examinations are part of the medical workup to implant DBS devices correctly, and can be used after the procedure to assess potential complications, provide long-term follow-up or evaluate new disease. At present, however, MRI of patients with DBS implants may introduce a significant risk of heating brain tissue. Dr Simon Graham, at the Sunnybrook Research Institute in Toronto, investigates how MRI can be optimised to keep DBS patients safe.
While alcohol is often consumed to help us relieve stress and relax, excessive consumption can negatively impact the way that our brains process and cope with stress, leading to further difficulties. Dr Lara Hwa from the Department of Psychology and Neuroscience at Baylor University is investigating the link between external stressors and stress signalling in the brain to understand how these processes govern excessive drinking.
The Wasting and Stunting Technical Interest Group: Generating Evidence to Challenge the Divide in Nutrition
Despite improvements in children’s nutrition over the past few decades, undernutrition remains a huge threat to the health and life of infants and young children worldwide. Health and nutrition actors have usually approached the problems of children being wasted, (thinner than they should be) and children who are stunted (shorter than they should be) as different outcomes of undernutrition with different causes and different interventions. Facilitated by the Emergency Nutrition Network (ENN), since 2014 the Wasting and Stunting Technical Interest Group (WaSt TIG) has challenged this view, and has begun to work to provide evidence for a unified approach to tackling these two outcomes of undernutrition.
Great advances in the field of science and medicine have seen treatments and cures developed for some of the worst diseases ever known. Despite this, the potentially devastating, but sadly common occurrence of preterm birth is not yet preventable. Dr Iain Buxton at the University of Nevada, USA, has been studying the role of the smooth muscle of the uterus to elucidate its role in preterm labour and birth. His research is paving the way for the development of much-needed interventions to prevent early birth.
Mutations affecting the expression of cone photoreceptors can lead to retinal degeneration, which in many cases can result in a permanent loss of vision. However, preclinical models for human retinal degenerative diseases are lacking. Dr Zi-Bing Jin and his colleagues study rhesus macaque models of achromatopsia (a congenital disorder characterised by an inability to distinguish colours) and oculocutaneous albinism (characterised by a disorder of melanin synthesis, leading to loss of visual acuity). The animal models utilised in the Jin laboratory offer important opportunities for studies on disease mechanisms as well as therapeutic development.
Dr Susanne M. Jaeggi, Dr Anja Pahor and Dr Aaron R. Seitz – Moving Beyond ‘One-size-fits-all’ Brain Training Solutions
Brain training allows us to improve our cognition in the same way that gym workouts improve our physical health. The ultimate goal is transferable learning, which improves performance in real-world activities beyond the original training tasks. Dr Susanne M. Jaeggi, Dr Anja Pahor and Dr Aaron R. Seitz from the University of California Irvine and Riverside, are collectively driving forward exciting advances in brain training, as well as addressing the controversy surrounding its effectiveness and limitations. Above all, they aim to understand the key ingredients for creating successful interventions.
Incessant ‘beeps’ from medical devices are an all-too-common feature of hospital environments. Whether monitoring patient vital signs or warning of imminent emergencies, they form an integral part of modern clinical practice. For historical reasons, these devices generally communicate using simplistic beeps. This creates significant problems for both clinicians (who can struggle to differentiate the messages) and patients (who find them annoying and frustrating). Dr Michael Schutz from McMaster University is applying insights from musicians’ use of sound to improve the quality of the auditory signals used in the life saving devices filling hospitals around the world.
Water is vital to sustaining human life and the contamination of drinking water can lead to disease and death. Dr Steve E. Hrudey from the University of Alberta’s Division of Analytical & Environmental Toxicology has identified the challenges of providing safe drinking water and clarified misconceptions regarding threats to drinking water safety. Based on his research findings, he has provided critical recommendations for the provision of safe drinking water to protect public health.
A transcription factor known as Early B-Cell Factor 1 (EBF1) is key to the formation of fat cells, called adipocytes. Although it is also active in mature adipocytes, the function of EBF1 at this stage has been unclear. Dr Michael Griffin at Sam Houston State University in Texas is investigating how EBF1 is involved in the process of adipose tissue inflammation caused by obesity. This type of inflammation is believed to be the underlying cause of a multitude of diseases ranging from diabetes to cancer.
Professor Patricia Leahy-Warren – Exploring Models of Nursing and Midwifery in the Community: International and National Perspectives
Across the world, primary care is increasingly being embraced as central to healthcare services. Effective delivery requires an efficient and cost-effective community-based model of care. However, no single overarching model of nursing and midwifery practice in the community exists in the literature. A collaboration of experts, headed by Professor Patricia Leahy-Warren from the Catherine McAuley School of Nursing and Midwifery at University College Cork in Ireland, is addressing this complex but critical gap to guide the development of nursing and midwifery in the community in Ireland.
Dr Natalia Sira – A Holistic Approach to Health Necessitates a Deeper Understanding of Human Development
Connecting body and mind through the consideration of both the physical and psychological components of health helps determine our reactions and developmental behaviour. Furthermore, the ways in which we achieve our optimal developmental potential manage how well we can adapt and cope with changes in our environment, deal with stresses in life and maintain overall well-being. Dr Natalia Sira from East Carolina University is improving patient care by taking a holistic and individualised approach to health outcomes, treatment and rehabilitation, focusing on the role of family relationships, developmental needs and spirituality as important components of coping mechanisms.
Cancer is a leading cause of death worldwide and understanding the development of the disease is essential for prevention and treatment. Dr T. Colin Campbell from Cornell University’s Division of Nutritional Sciences proposes the intriguing theory that cancer is not primarily a genetic disease but a nutrition-responsive disease. By conducting numerous animal and human studies, he is providing convincing evidence on the importance of diet, particularly the consumption of animal-based protein, in the development of cancer.
Environmental factors and genetics both play a part in how our brains function, whether that be in a healthy or disordered manner. Understanding the processes by which mental health disorders arise is an important step in developing effective therapies. Dr Jyoti Mishra founded NEATLabs at the University of California, San Diego, to work towards this goal. Her exciting research is advancing cognitive brain mapping to investigate brain functions as well as novel digital therapeutics that are personalised to individual needs.
Posttraumatic stress disorder (PTSD) is a prevalent psychiatric condition, significantly impacting the lives of millions of people globally. Sadly, symptoms often persist despite treatment. A better understanding of the brain abnormalities involved in PTSD is crucial to improving therapy development. Dr Israel Liberzon and his colleagues at the Texas A&M Health Sciences Centre have been working to uncover the dysfunctional neural networks that contribute to PTSD symptoms to inform the development of more effective interventions.
The incidence of pancreatic disease, including pancreatitis and pancreatic cancer, is on the rise, but currently, preventative measures and effective treatments are scarce. Dr Stephen Pandol at the Cedars-Sinai Medical Center in Los Angeles is working to change this. Dr Pandol carries out broad and far-reaching research, ranging from how lifestyle factors impact pancreatic disease to the molecular and cellular mechanisms behind pancreatic cancer resulting from obesity. His dedicated work has led to significant progress in the field and is driving forward the potential for better patient outcomes.
Neurodevelopmental disorders (NDDs) are a complex group of diseases that profoundly impact the human population, emerging during brain development but often affecting individuals throughout their lives. Human models of NDDs are needed, as many aspects of both the human genome sequence and brain development are human-specific and not recapitulated in animal models. Dr Kristen Kroll, in the Department of Developmental Biology at Washington University School of Medicine, has spent her career modelling neural development and identifying how its disruption can contribute to NDDs.
Decades of research indicate that mental health conditions and psychiatric disorders have a strong genetic basis. Expanding our understanding of mental health by encompassing a more systemic approach may help us improve both diagnosis and treatment. Dr. Chunyu Liu and his team from SUNY Upstate Medical University are using big data to discover the genetic and molecular changes in the brain that occur with different psychiatric disorders. His studies are helping us understand the diversity of human behaviour and develop new methods to treat mental health conditions.
Attention disorders range from attention deficit hyperactivity disorder to multitasking difficulties due to aging. Regardless of the cause, such difficulties can have a negative impact on peoples’ lives. Dr Adam Gazzaley from the University of California San Francisco has carried out extensive research exploring how customized technology can be utilized to strengthen attention capabilities in individuals across the lifespan. His work has driven him to develop innovative technology companies and software as well as educate us on the benefits of experimental medicine.
The presentation and characteristics of cancer in dogs often resemble those seen in people. This observation led Dr Elinor Karlsson, based at the University of Massachusetts Medical School and the Broad Institute of MIT and Harvard, to consider whether these pets could be a good model to study the disease in humans. Dr Karlsson, along with an established multidisciplinary team of collaborators, is working to identify the similarities between cancers in humans and dogs and translate this into better therapeutic approaches for both species.