Family Meeting Agenda

Research

The most up-to-date information in lay terms on the progress of all of the AHCF and Collaborative funded research projects!

Dr. Al George – Northwestern University
Will present an update on promising findings from both the AAV and ASO projects in his lab:
- The first is relevant to the efficacy of the vector for the AAV project. Dr. George’s lab found that the vector was successful in cultured neurons.
- The second finding is relevant to the use of ASOs as an effective therapy. This finding reflects the significant potential of ASOs to treat AHC.
Dr. Nutan Sharma & Dr. Laurie Ozelius – Massachusetts General/Harvard
- Longitudinal Natural History presentation – what phase of development is it in, and what is next?
- Research Clinic – Thursday all day by appointment. Old families update their records, new families become part of the AHC Clinical registry and biobank.
Nina Frost, BA, MPhil– Hope For Annabel President
- Update on currently funded research projects, Jax labs, Dr. Liu-Harvard, Dr. Clapcote – England
- Introduce CZ grant
- Development of new research projects
- Investigation into new research areas and describe research infrastructure
Dr. Matthew Campbell – Ireland
- 20% without mutation – intro to lab
Dr Natalia Morsci
- Animal Models – will provide families an introduction to AHC animal models (more than a mouse)

Physician’s panel – Saturday – Led by Dr. Kathryn Swoboda, including Dr. Marcio Sotero, Dr. Ken Silver, Dr. Al George, Dr. Hendrik Rosewich, Dr. Nutan Sharma, Dr. Sho Yano, Dr. Terry Sanger – Parents Q & A on AHC-related questions including Dystonia, Genetics, and Epilepsy.
Office Hours – Thursday – Open to all AHC families, caregivers, and physicians, we will be holding designated informal group discussions with various experts on Dystonia, Genetics, Neurology, and Epilepsy.
Sarah Spurling – MS Ph.D. LP HSPP “Navigating the psychosocial impacts of Chronic illness”.

Eloise Theisen – MSN, NP, AGPCNP-BC – “Using Cannabinoids for symptom management”
Alice Belgrade – MSEd, LCPC, BCBA- “Zooming to understand behavior in AHC”
Cate Cohen – BA, MBA “Care for the Caregiver” ”Mechanisms and ways to manage parent’s health in the chaos of AHC!
April Hawk – BS, MA “Coping with the AHC Diagnosis, experiencing the stages of grief”
Lauren Kronisch – MS RD LD “The Ketogenic Diet and an Overview of Available Evidence for Keto in Epilepsy and AHC”
Ryan Andrasco – Sibling Session – “ My sister/brother has AHC, and this is what I think!
Myra Medina PT, DPT – Physical Therapy when the kids aren’t looking!
Socialize and share ideas at the Meet & Greet Pizza Party, Ice Cream Social, and Foundation Family Luncheon!

Joshua Marszalek, AHCF President –Board of Directors – Come meet your fellow AHC families who represent you!
AHCF Committees- Team Leaders – Our Volunteers – The crucial role they play in the Foundation and the entire AHC community.
Gene Andrasco AHCF Treasurer – Research, Family Support & Education – How we are able to do what we do!
Kate Byrne – Race to END AHC!
Joshua Marszalek – What’s next for AHCF?