Terminology
A structured collection of patient data used to understand disease progression over time
What is a Natural History Study?
A group of genetic disorders characterized by progressive muscle weakness and degeneration
What are muscular dystrophies?
The year that the Orphan Drug Act started?
Ronald Reagan was president
What is 1983?
This term is used when someone or something seems shady or untrustworthy
What is "SUS"?
The interdisciplinary field that applies computer science, mathematics, and biology to capture, interpret, and manage massive biological datasets. It is essential for identifying susceptibility genes and pathogenic pathways.
What is Bioinformatics?
A term that describes the presence of fluid accumulation, often seen in rare conditions like Fabry disease, where it can lead to organ enlargement or dysfunction. It is also seen with cardiovascular disease.
What is Edema?
A rare, inherited, and progressive neuromuscular disorder classified as a lysosomal storage disease and a glycogen storage disease (type II). This inherited disorder is caused by a deficiency in the enzyme acid alpha-glucosidase, leading to a buildup of glycogen in the muscles and heart, causing severe muscle weakness, respiratory issues, and heart problems. A Notre Dame alum has this.
What is Pompe Disease?
This federal database that lists ongoing clinical trials. You can access it online
What is clinicaltrials.gov?
term refers to showing off, usually in a way that's meant to impress others
What is "FLEX"?
This drug development approach focuses on developing treatments for a small # of individuals with a specific mutation rather than a larger population with the disease.
What is personalized medicine?
A term that means reduced ability to swallow and manage saliva or food
What is Dysphagia?
This rare genetic disorder involves the accumulation of lipids in various organs, including the spleen, liver, and brain, leading to neurological degeneration, organ enlargement and symptoms such as ataxia and vertical gaze palsy.
What is Niemann Pick Type C?
U.S. law, passed in 2018, allows terminally ill patients to access experimental treatments that have not yet been approved by the FDA, without needing to participate in clinical trials.
What is the Right to Try ACT?
This word is used to describe something that is exceptionally good, especially food. If a meal or snack is this, it means it’s delicious.
What is “bussin’” ?
This pizza is bussin
A way for individuals and families affected by rare diseases to highlight the human aspect of their experiences, helping to increase understanding and compassion for the community
What is storytelling ?
The term is used to describe the phenomenon where a person experiences difficulty in walking and maintaining balance, often seen in diseases affecting the nervous system
What is Ataxia?
A neurodegenerative disorder caused by a mutation in the HTT gene, this condition leads to progressive motor dysfunction, cognitive decline, and psychiatric symptoms, typically appearing in mid-adulthood; fatal
What is Huntington's Disease?
Landmark U.S. law, passed in 2016, aimed to accelerate the development of new treatments and cures by improving the efficiency of clinical trials, increasing funding for medical research, and expanding access to mental health services.
What is the 21st Century Cures Act?
To do something exceptionally well, especially in terms of style, confidence, or performance
What is “slay”?
This term refers to efforts and activities aimed at supporting and representing the needs and rights of individuals living with rare diseases
What is patient advocacy?
What is the Clinical Term for nosebleed?
Epistaxis
A progressive neurodegenerative movement disorder caused by a mutation in the FXN gene, providing instructions for production of Frataxin
What is Friedreich's Ataxia?
This nonprofit organization, founded in 2009, advocates for individuals with rare diseases and aims to accelerate the development of treatments and cures through policy and legislative advocacy.
What is the Everylife Foundation?
The term is used to describe the overall feeling, mood, or atmosphere of a place, event, or person
What is Vibe?
“this classroom has such a chill vibe”?
A global event observed on the last day of February, where patient advocates, families, and organizations come together to raise awareness about rare diseases and encourage support for research.
What is rare disease day?