A medical condition that affects a small percentage of the population, often characterized by limited research, lack of treatment options, and unique challenges for patients and caregivers.

Orphan Disease:

Another term for a rare disease, referring to the limited attention and resources allocated to these conditions due to their low prevalence.

Prevalence:

The proportion of individuals in a population affected by a particular rare disease at a specific point in time.

Undiagnosed Rare Disease:

Conditions that have not been formally identified or classified, posing additional challenges for patients and healthcare providers.

NORD (National Organization for Rare Disorders):

A non-profit organization dedicated to advocating for individuals with rare diseases and promoting research and awareness.

Patient Advocacy Groups:

Organizations formed by patients, families, or caregivers to raise awareness, provide support, and advocate for research and treatments related to specific rare diseases.

Inherited Rare Disease:

Conditions passed down from one or both parents through genetic transmission, resulting in a higher risk within certain families.

Exome Sequencing:

A genetic testing method that focuses on sequencing the protein-coding regions of an individual’s DNA, often used to identify rare disease-causing mutations.

Symptomatic Treatment:

Therapies aimed at alleviating the symptoms of a rare disease rather than addressing the underlying cause, often the primary approach due to limited treatment options.

Global Genomic Data Sharing:

Collaborative efforts to share genetic data globally, enhancing research and understanding of rare diseases across diverse populations.

Diagnostic Odyssey:

The often lengthy and challenging process of diagnosing a rare disease, involving multiple medical consultations, tests, and evaluations.