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Patients with rare diseases are a unique patient population not only because of their medical challenges, but also because they are often burdened by the difficulty of finding a diagnosis. Those impacted by rare diseases are struggling to manage their (or their child’s) condition. Without knowing the root cause of their disease, they often feel lost and frustrated in this situation. Receiving a diagnosis is crucial as it can lead to more targeted treatments, slow the disease progression, and contribute to the patients’ sense of control over their condition. Diagnosis also grants patients access to certain services and support systems that can improve their disease management. The search for diagnosis can be extremely long and difficult and is referred to as a diagnostic odyssey. Currently, the average duration of the diagnostic odyssey for rare genetic conditions is 4.8 years, during which patients and their families are heavily burdened emotionally, physically, and financially. This is also a burden on the healthcare system and society as a whole.

Students:

Mrs. Renee Hofstedter

BA Psychology, MS Education

Bnos Bais Yaakov
High School Biology Teacher

Ms. Weixi Li

HBSc. Molecular Biology

Mrs. Anat Segal-Shalev

BSc. Pharm

Roche
Quality Assurance Pharmacist

Capstone Supervisor:

Prof. Joseph Ferenbok

PhD
Translational Research Program, Temerty Faculty of Medicine, University of Toronto
Revolutionary Translator, Director

Capstone Advisory Committee:

Nicholas

MSc, MSc, CCGC, CGC
UHN
Genetic Counsellor

Prof. Lucy

MSc, PhD
Medicine and Molecular Genetics
Genetic Disorder Translator, IMS Liaison & Graduate Coordinator

Robin

PhD, ScM
SickKids
Scientist

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Mrs. Renee Hofstedter

BA Psychology, MS Education

Bnos Bais Yaakov
High School Biology Teacher

Ms. Weixi Li

HBSc. Molecular Biology

Mrs. Anat Segal-Shalev

BSc. Pharm

Roche
Quality Assurance Pharmacist
{!{types field=’problem’}!}{!{/types}!}

Patients with rare diseases are a unique patient population not only because of their medical challenges, but also because they are often burdened by the difficulty of finding a diagnosis. Those impacted by rare diseases are struggling to manage their (or their child’s) condition. Without knowing the root cause of their disease, they often feel lost and frustrated in this situation. Receiving a diagnosis is crucial as it can lead to more targeted treatments, slow the disease progression, and contribute to the patients’ sense of control over their condition. Diagnosis also grants patients access to certain services and support systems that can improve their disease management. The search for diagnosis can be extremely long and difficult and is referred to as a diagnostic odyssey. Currently, the average duration of the diagnostic odyssey for rare genetic conditions is 4.8 years, during which patients and their families are heavily burdened emotionally, physically, and financially. This is also a burden on the healthcare system and society as a whole.

Capstone Supervisor:

Prof. Joseph Ferenbok

PhD
Translational Research Program, Temerty Faculty of Medicine, University of Toronto
Revolutionary Translator, Director

Capstone Advisory Committee:

Nicholas

MSc, MSc, CCGC, CGC
UHN
Genetic Counsellor

Prof. Lucy

MSc, PhD
Medicine and Molecular Genetics
Genetic Disorder Translator, IMS Liaison & Graduate Coordinator

Robin

PhD, ScM
SickKids
Scientist