Famous people with rare diseases
This famous singer and songwriter, diagnosed with cystic fibrosis, was the lead vocalist for the band The Doors.
Who was Jim Morrison?
This is a common symptom of Niemann-Pick Type C, where patients experience difficulty in movement and coordination.
What is Ataxia?
This method of studying health information over time from patient charts and records is crucial for understanding the progression of rare diseases.
What is a natural history study?
This gene therapy technique, which involves editing genes at specific locations in a patient's DNA, has shown promise in treating rare diseases like sickle cell anemia and beta-thalassemia.
What is CRISPR-Cas9?
The one pet peeve that Prof. Calhoun takes time to create a slide for on the first day of class?
What is no computers or phones during guest lectures?
Sarah Hyland the Modern Family actress has had a long struggle with kidney dysplasia, a rare congenital disorder where the kidneys are not properly developed. How did they treat her?
What is a kidney transplant?
This organ is often enlarged in people with Niemann-Pick Type C, which can cause abdominal discomfort and digestive problems. THis organ stores and filters blood and makes white blood cells that protect you from infection
What is the spleen?
Approved in 2017, Spinraza was the first FDA-approved treatment for this rare neuromuscular disease, marking a major milestone in antisense oligonucleotide therapy.
What is Spinal Muscular Atrophy?
This groundbreaking drug, approved by the FDA, is the first to treat spinal muscular atrophy, a rare genetic disorder.
Question: What is Spinraza?
Professors know when students are multitasking—especially when they’re doing this instead of taking notes on their laptop
What is online shopping, watching Netflix or doing other coursework?
What rare disease does Celine Dion have?
rare, progressive neurological disorder characterized by muscle stiffness and painful spasms
What is Stiff Person Syndrome?
A significant symptom of Niemann-Pick Type C that can affect a person’s vision and is often associated with eye movement issues is called this.
What is supranuclear vertical gaze palsy? will accept vertical gaze palsy
Researchers studying rare diseases often use this type of model—derived from patient cells and reprogrammed to become any cell type—to study disease mechanisms and test treatments.
What are induced pluripotent stem cells (iPSCs)?
This rare condition involves the body’s inability to break down the amino acid phenylalanine, leading to brain damage if not managed through diet. It was the first disease to be put on the newborn screening panel
What is Phenylketonuria or PKU?
This classic move involves a student showing clear signs of exhaustion—drooping eyelids, head bobbing—and occasionally snoring
What is falling asleep in class?
Olympic swimmer Matt Biondi's daughter was diagnosed with this neurodegenerative disease, a rare and often fatal genetic disorder that causes the body to accumulate cholesterol and other lipids, leading to severe neurological and liver complications
What is NP-C?
This diagnostic test, which is used to confirm a diagnosis of Niemann-Pick Type C, can detect abnormalities in lipid storage in cells
What is a skin biopsy or fibroblast culture?
To accelerate research in rare diseases, scientists and advocacy groups increasingly use these online tools that gather data directly from patients and families.
What are patient registries or patient reported outcome measures?
This rare disease is caused by the degeneration of brain cells and is typically diagnosed in mid-adulthood, leading to severe physical and mental decline. It causes a slow breakdown of specific nerve cells in the brain. Symptoms usually start between the ages 35 and 40.
What is Huntington's Disease?
This behavior disrupts the class, draws attention, and is often paired with the loud unzipping of a backpack and a dramatic entrance.
What is showing up late to class?
The Back to the Future star was diagnosed with Parkinson’s disease at age 29. He has since become a vocal advocate for Parkinson's research through his foundation
WHo is Michael J Fox?
What is the name of the Director of the Ara Parseghian Medical Research Fund, here at Notre Dame?
Who is Sean Kassen, PhD?
This type of individualized clinical trial, often used in rare disease research, tests the effect of a treatment on a single patient, offering personalized insights when large trials aren't feasible.
What is N of 1 trial?
This genetic disorder causes muscles to weaken and waste away over time (progressive loss of muscle) , and it is one of the most common genetic disorders in boys
What is Duchenne Muscular Dystrophy?
This is the worst thing you can be holding when you arrive late for class
What is a full cup of coffee?