Connecticut Rare Disease Forum – Hosted by The Jackson Laboratory & BioCT

Join us for an afternoon of industry-led discussions on innovation in rare disease diagnostics and treatments, along with the promising impact of these advancements on patient outcomes.

AGENDA

1:30-2:00 Registration

2:00-2:25 Welcome

• Jodie Gillon, President & CEO, BioCT

• Lon Cardon, PhD, President & CEO, The Jackson Laboratory for Genomic Medicine
• Alexion, AstraZeneca Rare Disease

2: 25–3:20 Panel 1: Research & Innovation, Diagnostics

This panel will provide the current state, challenges, and future directions in the context of rare diseases, discussing emerging trends and technologies in diagnostics, such as genomic sequencing, advancements in techniques, bioinformatics, and their potential impact on rare disease diagnosis and management.

Moderator: Lon Cardon, PhD, President & CEO, The Jackson Laboratory

Panelists:

• Charles Lee, PhD, FACMG, Scientific Director & Professor, The Jackson Laboratory for Genomic Medicine
• Banu Sankaran, PhD, MBA, Head of Diagnostics Strategy & Development, Alexion, AztraZeneca Rare Disease
• Michele Spencer-Manzon, MD, FABMG, Co-Director, Yale NORD Center of Excellence; Co-Chair, Connecticut-Rare Disease Advisory Council
• Dawn Cardeiro, MS, Director of Precision Medicine, Point32Health

3:20-3:30 Break

3:30-3:40 Video: Intro to the JAX Rare Disease Translational Center

3:40 – 4:15 Panel 2: Research & Innovation, Treatments

This panel will discuss the challenges and opportunities in discovering and developing pharmaceuticals for rare diseases, advancements in gene and cell therapies, and dialogue around innovation, collaboration, and patient-centric approaches.

Moderator: David Scheer, MS, President, Scheer & Company

Panelists:

• Brigette Roberts MD, CEO & Director, OrphAI Therapeutics
• Martin Mackay PhD, Co-Founder & Executive Chairman, Rallybio
• Jennifer Good, Co-Founder, President & CEO, Trevi Therapeutics
• Craig Miller, MS, Director, I&R Portfolio Strategy & Ops, Boehringer Ingelheim

4:15-4:30 Closing Remarks

4:30 Reception