Invisible No More: How Redefining Rare Diseases Can Advance Health Equity

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

Primary care promotes wellness and prevents disease. This care includes health promotion, education, protection (such as immunizations), early disease screening, and environmental considerations. Settings providing this type of healthcare include physician offices, public health clinics, school nursing, and community health nursing.
In 1978, international leaders convened in Alma-Ata, Kazakhstan, for what would be a pivotal event in global health. The Alma-Ata Declaration was the first to call...

The factors influencing the health-illness continuum can be internal or external and may or may not be under conscious control. They are related to the following eight human dimensions, and each dimension is interrelated to one other.

Disease surveillance is the systematic collection, analysis, and interpretation of health data essential to the planning, implementation, and evaluation of public health practice. This process integrates data dissemination to entities responsible for preventing and controlling disease, injury, and disability. Surveillance systems provide crucial information for action, helping public health authorities make informed decisions to manage and prevent outbreaks, ensure public safety, optimize...

Health promotion allows a person to control the determinants of health, resulting in an improved health status. It enhances the quality of life and reduces premature deaths. Health promotion and illness prevention programs help people make beneficial choices to reduce the risk of disease and disabilities. There are three health promotion and illness prevention levels: primary, secondary, and tertiary prevention.
In primary prevention, actions taken before disease onset prevent the disease from...

Health is a condition of the body, mind, and spirit where an individual remains free from illness. Similarly, wellness is an active state, including living a lifestyle that promotes physical, mental, and emotional health. Physical health is critical for the overall well-being and can be affected by lifestyle, activity level, diet, and behavior. The highest attainable standard of health is a fundamental and universal human right. Consider Lisa, a fifteen-year-old born with congenital...