Nursing's Role in Advancing Care for Rare Genetic Diseases

Andrew A Dwyer1, Suja Somanadhan2

  • 1William F. Connell School of Nursing, Boston College, Chestnut Hill, MA 20476, USA; P50 Massachusetts General Hospital - Harvard Center for Reproductive Medicine, Boston, MA, USA.

Related Concept Videos

Nursing Ethical Principles II01:27

Nursing Ethical Principles II

Ethical principles are essential in guiding nurses to fulfill their responsibilities, focusing on the quality of nursing care and decision-making. These principles, including autonomy, beneficence, non-maleficence, justice, and fidelity, shape the ethical framework within healthcare settings.
Consider the following scenario, which illustrates how these principles are applied in the care of Mr. John, a fifty-year-old teacher diagnosed with metastatic liver cancer.
Initially, Mr. John's...
895
Issues And Trends In Healthcare Delivery System01:29

Issues And Trends In Healthcare Delivery System

The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
Cost Containment
Payment for healthcare services has historically promoted adoption of costly and often unnecessary or inefficient...
5.5K
Aims Of Nursing01:29

Aims Of Nursing

Nursing involves independent, cooperative, person-centered care for people of all ages, families, groups, and communities. Nurses assist the sick or the well person in all settings. Nursing includes promoting health, preventing illness, and caring for ill, disabled, and dying people. Health promotion encourages people to take responsibility for their health. It focuses on the healthy behavior of individuals, families, and the community and the factors that impact their health. Examples of...
12.2K
Specialized Care Centers and Settings-II01:30

Specialized Care Centers and Settings-II

Rural Health Centers
Rural health centers are specialized care facilities in remote locations with very few medical personnel. The primary care providers who run the centers are mostly Registered Nurse Practitioners. Here, emergency treatment is provided to critically ill or injured patients before they are transferred to the closest hospital. Fortunately, due to advancement in technology, many rural healthcare facilities and professionals have easy access to diagnostic and treatment...
682
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
25.0K
Translation01:31

Translation

Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
14.2K