CORDSA
What is our topic for the rare disease gala this year?
Rare autoimmune disorders.
How many autoimmune diseases have been identified? (Will accept answers +/- 10)
~100
When is rare disease day this coming year?
February 28, 2025
How long does it take, on average, to receive a diagnosis for a rare disease?
5 years or more.
This is often from lack of research, knowledge, or experience within the medical and research community since rare diseases will often present unusual symptoms or test results.
Which chromosome is affected by 9P Minus Syndrome?
Chromosome 9.
It is the result of a genetic deletion resulting in developmental delays, cognitive disabilities, organ issues such as heart defects, growth delays, and behavioural challenges.
When was CORDSA formed as a student group?
2017
Do autoimmune diseases occur more often in females or males?
Females.
They account for ~ 80% of all autoimmune diseases. For example, lupus and rheumatoid arthritis.
What is considered a rare disease?
If it affects fewer than 1 in 2000 people in their lifetime.
What percentage of rare diseases have treatments available?
About 5%. The remaining 95% have no treatment since they are not being studied by researchers.
Where does Non-Hodgkin Lymphoma cancer start?
In the lymphocytes (WBCs) most commonly found in the lymph nodes, spleen, and bone marrow.
This will often result in swollen lymph nodes, fevers, weight loss, chronic fatigue, among many other symptoms.
What are our objectives/goals in CORDSA?
Advocating and raising awareness for rare disorders on and off the U of A campus
Generating funding for research; treatment helping those in need; research; health promotion and education
Reaching out and participating within community events linked to the purpose
As of 2019, how many Canadians have been diagnosed with autoimmune disorder?
2 million.
Some of the more prevalent diseases are lupus, rheumatoid arthritis, multiple sclerosis, Crohn's disease, and Sjögren's syndrome.
How many rare diseases are there so far?
~7,000
What is the best test to diagnose rare diseases?
Whole-genome sequencing.
This is essentially analyzing an individual’s entire genome using sequencing and bioinformatic methods to identify mutated nucleotides (locations) in important genes.
What is the cause of Turner's Syndrome?
Chromosomal abnormality in the X chromosome (missing or incomplete) during cell division and is a spontaneous/random event.
What does the Zebra symbolize?
“Sometimes when you hear hoofbeats, it really is a zebra.” When you hear hoofbeats you normally assume it is a horse, however rare disease patients are the occasional zebras in the bunch.
Asherson’s syndrome is an extremely rare autoimmune disorder affecting ___ ?
Blood/ blood-coagulation.
In other words, the formation of several blood clots (thromboses) which can lead to a serious risk of organ failure and potentially death.
What percentage of rare diseases are genetic? (hint: more than 50%)
~72%.
They often arise from random mutation(s) to a gene(s) and commonly arise early in childhood. Some genetic diseases can also be passed down.
What is a treatment method for rare diseases?
Diet therapy, surgery, medication, bone marrow transplantation, antibody therapy, enzyme replacement therapy, gene therapy, stem cell therapy, and chemotherapy.
What ethnic demographic (group of individuals) is more commonly diagnosed with Stevens-Johnson Syndrome?
Han Chinese individuals because many carry specific gene markers that tend to increase the risk of SJS. For example, the HLA-B*1502 allele.
What was our name before it was CORDSA?
NORDSA! We were previously an affiliate student group with the National Organization for Rare Disorders (NORD).
Graves' disease is an immune system condition that affects the _____ ?
Thyroid gland.
The immune system targets it, which results in a significant overproduction of thyroid hormones which often causes heart problems, weak bones, breakdown of muscle tissue, eye disease, and skin disease.
What are some challenges people with rare disease experience?
• Difficulty in obtaining an accurate diagnosis (this can take years, which can be critical for stopping/decreasing the progression of a disease)
• Few treatment options
• Little or no research being done on the disease
• Difficulty finding physicians or treatment centers with experience for a particular disease
• Paying for treatments that are generally more expensive than those for common diseases
• Reimbursement issues with medical/private insurance (in countries where healthcare isn’t free)
• Difficulty accessing medical, social, or financial services or assistance because those making
the decisions are not familiar with the disease
• Feelings of isolation and of having been abandoned or “orphaned” by our health care system
What percentage of rare disease treatments that exist in the USA and Europe DO NOT make it to Canada?
~40%.
-This is often a result of differences in:
-Regulatory/approval processes for new treatments
-The clinical evidence requirements that Canada requires
-Market size which affects pharmaceutical investment decisions
-etc
What is a symptom of Systemic Lupus Erythematosus (SLE)?
Joint pain, swelling, extreme fatigue, skin rashes, headaches, hair loss, chest pain, and light sensitivity.