Ms. Weixi Li

HBSc. Molecular Biology

Research Interests:

My current research interest lies in development and commercialization of pharmacogenomic devices. I’m interested in pinpointing translational barriers within and hope to implement use it as a tool to prevent adverse drug reactions in patients.

Brief Bio:

I’m interested in pinpointing translational barriers within and hope to implement use it as a tool to prevent adverse drug reactions in patients.

Capstone Project:

Rare disease patients do not receive timely genetic diagnosis due to many barriers. Despite the abundant data published about the diagnostic odyssey, most of it presents the perspectives of stakeholders other than the patients, such as health care providers and researchers.

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.

Ms. Weixi Li

HBSc. Molecular Biology

Research Interests:

My current research interest lies in development and commercialization of pharmacogenomic devices. I’m interested in pinpointing translational barriers within and hope to implement use it as a tool to prevent adverse drug reactions in patients.

Brief Bio:

I’m interested in pinpointing translational barriers within and hope to implement use it as a tool to prevent adverse drug reactions in patients.

Capstone Project:

Rare disease patients do not receive timely genetic diagnosis due to many barriers. Despite the abundant data published about the diagnostic odyssey, most of it presents the perspectives of stakeholders other than the patients, such as health care providers and researchers.

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.