2017 International RASopathies Symposium Agenda

8:00-10:00pm

Dessert and Scientific Poster Session (Scientists and advocacy/family groups)
Goal: Encourage collaboration between researchers and families in a nonclinical setting

7:00-8:00 am

Breakfast (Crystal D)

9:00-5:00 pm

Family Photo Shoot in and around meeting areas – Rick Guidotti

8:00-10:00 am

Session 1: What Defines a RASopathy?
Moderator: Martin Zenker, MD
Goals: Hear from patients and families about their experiences living with a RASopathy.
Lay the scientific foundation for a comprehensive and accurate understanding of the current definition of a RASopathy.

8:00-8:30 am

Four Individuals/Caregivers: Perspectives from the Home Front

8:30-9:00 am

Frank McCormick, PhD, FRS: Molecular primer on the Ras signaling pathway

9:00-9:30 am

Katherine A. Rauen, MD, PhD: The RASopathies

9:30-10:00 am

Discussion (Clinical Diagnosis, Phenotype-Centered vs. Molecularly Defined)

10:00-10:10 am

Break

10:10 am-12:00 pm

Session 2: Syndromic and Sporadic Cancers of the Ras Pathway
Moderator: Karen Gripp, MD
Goal: Examine cancer types and mechanisms in individuals with RASopathies

10:10-10:50 am

KEYNOTE: Nancy Ratner, PhD: Preclinical studies to guide NF1 clinical trials

10:50-11:10 am

Corinne Linardic, MD: Pediatric sarcomas, rhabdomyosarcoma

11:10-11:30 am

Hélène Cavé, PharmD PhD: Myoproliferative neoplasms (JMML) in RASopathies

11:30-11:50 am

Brigitte Widemann, MD: Clinical trial updates, NF1 Plexiforms and MPNSTs

11:50 am-12:00 pm

Discussion

12:00-1:00 pm

Lunch and Learn: Rick Guidotti: Positive Exposure (Crystal D)

1:00-4:30 pm

Session 3: Human Development: Effects on Organ Systems
Moderator: Bruce Korf, MD, PhD
Goal: Learn how RASopathy mutations affect developing tissues, organs, and body systems

1:00-1:40 pm

KEYNOTE: Marco Tartaglia, PhD: RASopathy genetics, new mutations, congenital defects

1:40-2:00 pm

NERVOUS SYSTEM

1:40-2:00 pm

Erika Yeh, PhD (Weiss Lab): From skin cells to neurons

2:00-2:20 pm

Erik Ullian, PhD: How do astrocytes affect brain function in RASopathies?

2:20-2:40 pm

Giuseppe Zampino, MD: Penn MDBR 2015 Grantee – Pain in RASopathies: new investigative techniques and treatments

2:40-2:50 pm

Discussion

2:50-3:00 pm

Break

3:00-3:40 pm

CIRCULATORY SYSTEMS

3:00-3:20 pm

Bruce Gelb, MD: Human inducible pluripotent stem cells for the study of heart defects

3:20-3:40 pm

Max Itkin, MD: Imaging of the central lymphatic system in patients with Noonan syndrome using Dynamic Contrast Enhanced MR Lymphangiography

3:40-4:00 pm

GASTROINTESTINAL SYSTEM

Cheng Sun, PhD (Kontaridis Lab): Penn MDBR 2014 Grantee – Using human inducible pluripotent stem cells to delineate the cause of gastrointestinal abnormalities in RASopathy disorders

4:00-4:10 pm

Discussion

4:10-4:20 pm

Break

4:20-5:50 pm

Session 4: Developmental Perspective: Modeling RASopathies in Animals and in Silico
Moderator: Suma Shankar, MD, PhD
Goal: Discuss nonhuman model experimental systems and how they are used to study RASopathies

4:20-4:40 pm

Stanislav Shvartsman, PhD: Quantitative biology of RASopathies

4:40-5:00 pm

Ethan Perlstein, PhD (Perlara): Rare disease drug discovery using whole animal disease models

5:00-5:20 pm

Edward Stites, MD, PhD: Computational analysis of pathological Ras mutants

5:20-5:40 pm

Annette Schenck, PhD: Habituation learning in Drosophila – a high-throughput platform to identify drugs that ameliorate cognitive and behavioural problems in Rasopathies

5:40-5:50 pm

Discussion

5:50-6:30 pm

Break

6:30-8:30 pm

Networking Dinner with Cash Bar

7:00-8:00 am

Breakfast Meeting: How Do You Define a RASopathy? (Crystal D)

8:00-9:30 am

Session 5: Ras Pathway Mechanics
Moderator: Martin McMahon, PhD
Goal: To discuss molecular mechanisms of Ras pathway signaling: How do crystal structures and dynamic imaging shed new light?

8:00-8:20 am

William Huang, PhD: Membrane signaling dynamics

8:20-8:40 am

John Albeck, PhD: Quantifying the cellular effects of Ras pathway mutations with live-cell imaging

8:40-9:00 am

Deborah Morrison, PhD: Divide and Conquer: Targeting Raf Regulatory Interactions

9:00-9:20 am

Marc Therrien, PhD: Allosteric control of RAF activation by dimerization

9:20-9:30 am

Discussion / Break

9:30-11:00 am

Session 6: Potential Therapeutics
Moderator: David Stevenson, MD
Goal: Discuss promises and challenges of Ras pathway therapeutic drug development

9:30-9:50 am

Brage Andresen, PhD, FRCPath: Splice switching oligonucleotides (SSOs) for HRAS exon 2 skipping

9:50-10:10 am

Steven Fruchtman, MD (Oncovera Therapeutics): Rigosertib for JMML

Christopher Gibson, MD, PhD (Recursion Pharmaceuticals): Image-based high throughput screens for rare disease therapeutics

10:30-10:50 am

Philip Stork, MD: Penn MDBR 2016 Grantee – What can Ras-dependent cancers teach us about Rasopathies?

10:50-11:00 am

Discussion / Break

11:00 am-12:30 pm

 11:00-11:30 am

 Junior Investigator Poster Finalists: Three 10-minute presentations, winner announced

11:30-12:20 pm

 KEYNOTE: Frank McCormick, PhD, FRS: Targeting Ras and NF1-related malignancies

 12:20-12:30pm

 Discussion and Next Steps
Frank McCormick, PhD, FRS, Katherine A. Rauen, MD, PhD, Lisa Schoyer, MFA

12:30-1:30 pm

BREAKOUT SESSIONS

• RASopathy Family Groups
  • CFC and NS:  Bruce Gelb, MD, and Katherine A. Rauen, MD, PhD (Coral C)
  • CS: Karen Gripp, MD, David Stevenson, MD, and Bronwyn Kerr, MBBS (Coral A)
• NIH Q&A: William C. Timmer, PhD, NCI Program Director (Labrid B)

 12:30-4:00 pm

 NF Network’s Post-Symposium Family Meeting (Coral B)

 2:30-4:30 pm

 RASopathy Advocacy Organizations’ Meeting on Approaching Data Collection and Sharing (Labrid B)

2:30-6:00 pm

Post-Symposium Events for CFC and NS families