Lecture Notes: A Journey Through Genetic Prion Disease and Scientific Endeavor

Introduction

• Speaker's Story: Received a predictive genetic test report 13 years ago.
• Red Pill-Blue Pill Moment: Life-changing discovery about genetic risk.

Two Key Moments

Moment One (August 2009)

• Event: Marriage to Eric.
• Highlight: Eric reads from the speaker's diary from age 13 during the wedding speech.
• Family Reactions: Laughter and heartfelt moments with her mother.

Moment Two (Six months later)

• Event: Mother falls severely ill with mysterious, rapidly progressing symptoms.
• Effects: Dementia-like symptoms, confusion, and hallucinations.
• Outcome: Mother passes away without a clear present-tense goodbye.

Discovery of Genetic Prion Disease

• Autopsy Results: Mother had genetic prion disease.
• Speaker's Risk: 50-50 chance of having inherited the mutation.
• Decision: Both the speaker and Eric choose to find out the truth.

Life After Diagnosis

• Test Result: The speaker has the mutation.
• Prion Disease: Always fatal and hits in adulthood, leading to death within months.
• Response: Transition into science to understand and find a cure for prion disease.

Scientific Journey

• Initial Steps: Self-education through Wikipedia and Google, consulting scientist friends.
• Career Shift: Leaving professional careers to pursue lab jobs and PhDs.
• Current Role: Leading a research lab devoted to developing prion disease therapy.

Understanding Prion Disease

• Unique Pathogen: Caused by a rogue protein (PrP) that misfolds and corrupts others.
• Scientific Breakthrough: Single-molecule imaging allows direct observation of the misfolding process.
• Therapeutic Approach: Focus on early prevention by depleting the PrP protein before it becomes pathogenic.
• Challenges: Developing practical medicines that are safe, manufacturable, and effective.

Philosophy and Approach

• Prevention Over Treatment: Aim to prevent disease before symptoms manifest rather than stabilizing mid-crisis.
• Innovation Needs: Trials in healthy individuals for prevention, not just in symptomatic patients.

Broader Impacts and Personal Reflections

• Relevance to Other Diseases: Insights gained from prion disease could apply to other protein-related diseases.
• Balancing Act: Scientific audacity and humility in tackling complex brain diseases.
• Daily Life in the Lab: Building multiple approaches in parallel due to pressing time constraints.
• Family and Legacy: Using IVF with genetic testing to prevent passing on the mutation.
• Life Perspective: Making grace out of difficult circumstances and appreciating unexpected journeys.

Final Thoughts

• Jeopardy as Motivation: Racing against uncertain time to find a cure.
• Inspirational Outlook: Turning a personal tragedy into a mission to help others.

QA Portion

• Wider Application: Insights from prion disease research may benefit other medical conditions involving rogue proteins.

Conclusion: Emphasis on the need to prevent neurodegenerative conditions and to take bold, innovative steps in the pursuit of scientific discovery.