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2021 Conference Agenda

The agenda will be updated regularly as we confirm additional speakers and session information. All times are Pacific Daylight Time.


THURSDAY, MAY 20

8:00-8:15 a.m. – Welcome & Sponsor Recognition – Patricia Wood, founder and president, NBIA Disorders Association


8:15-9:15 a.m. – Developing Your Super Power!  Advocating for your Child 

Keynote Speaker – Betsy Furler, Founder and CEO, For All Abilities
During her son Henry’s life, Betsy learned that she had to be his best advocate. Though given a shortened life expectancy, Henry lived a glorious life for almost 23 years – including being one semester away from a college degree. In this session, Betsy shares her tips and tricks on advocacy to navigate the tricky medical and educational systems that often want to limit children who are different than others.


9:30-10:30 a.m. – Stress Rx:  Stress Resilience and Sensory Care

Keynote Speaker – Cristol Barrett O’Loughlin, CEO, Angel Aid Cares
From having what seemed like the perfect family to losing three brothers, mental health advocate Cristol Barrett O’Loughlin draws on personal tragedy to ease the emotional suffering of others. Her inspiring stories of courageous #RareMothers, reveal the secrets to sustainable self-care and wellness. With the onslaught of COVID-19, we are collectively living with the realities and stressors of home/work life balance, homeschooling, medical uncertainty. Backed by University of California, San Francisco, stress research, Cristol illustrates the purpose of our pain. With guided meditations and her signature infectious enthusiasm, Cristol gently nudges us to move beyond asking, “Why me?” to “What can I do to help others by healing myself first?”


9:30-10:30 a.m. – MPAN families clinical group meeting with Drs. Susan Hayflick, Penny Hogarth, Jenny Wilson and Allison Gregory, genetic counselor
Leading experts on MPAN from the Oregon Health & Science University share information on the latest clinical information in treating MPAN disease symptoms and other therapies. They also answer questions conference participants submitted before the conference.


10:45-11:45 a.m. – Oral Health Q&A: Have your oral health  questions addressed by our panel of experts
Speakers: 
Dr. Mark Karakourtis, oral surgeon, Austin, Texas; Dr. Jerome McMahon, director of University of Cincinnati Medical Center Dental Center; and Dr. Nicole White, staff dentist, University of Cincinnati Dental Center


10:45-11:45 a.m.  – Meet Up for Young Adults with NBIA (social) – Facilitator:  Rowan Strange, Living our Visions Inclusively


10:45-11:45 a.m.  – Meet up for NBIA Grandparents, Extended Family Members and Close Friends


12-1:00 p.m. – Meet up for Families by Disorder
Opportunity to speak openly with others living with or caring for someone who has the same disorder. We ask that those with other affiliations, such as researchers, industry representatives, etc., not attend these sessions.

  • INAD/PLAN
  • BPAN
  • MPAN
  • FAHN

12-1:30 p.m. - PKAN families clinical group meeting with Drs. Susan Hayflick, Penny Hogarth, Jenny Wilson and Allison Gregory, genetic counselor.
Leading experts on PKAN from the Oregon Health & Science University share information on the latest clinical information in treating disease symptoms and other therapies. They also address questions  conference participants submitted before the conference.


FRIDAY, MAY 21

7:45-9:45 a.m. – BPAN families clinical group meeting with Drs. Susan Hayflick, Penny Hogarth, Jenny Wilson, Laura Adang, Ittai Bushlin and Allison Gregory, genetic counselor.
Leading experts on BPAN share information on the latest clinical information in treating disease symptoms and other therapies. They also answer questions conference participants submitted before the conference.


8:00-8:45 a.m.  – The History of Patient Engagement in Regulatory Affairs in the United States
Speaker:
Danielle Reinhart, MPH, vice president of data intelligence and governance at Unisys
In 2021, patient advocacy groups drive research and innovation in the rare disease space.  But that wasn't always the case. This presentation explores the history of patient advocacy in the United States and describes current opportunities for patient advocates to get involved in all aspects of rare disease research.


9:00-9:30 a.m. – Nutrition Discussion (G-Tubes) – Speaker TBD


9:30-9:45 a.m. – Meditation


9:45-10:30 a.m.  – Importance of Natural History Studies in Rare Diseases
Speaker: Dr. Eric Sid, Office of Rare Disease Research, -National Institutes of Health


10:45 a.m.-12:15 p.m. – INAD/PLAN families clinical group meeting with Drs. Paul Kotzbauer, Susan Hayflick, Penny Hogarth, Jenny Wilson and Allison Gregory, genetic counselor.
Leading experts on INAD/PLAN share information on the latest clinical information in treating disease symptoms and other therapies. They also address questions conference participants submitted before the conference.


10:45-11:45 a.m. – Creating a Future Care Plan
Speaker:
Mary Anne Ehlert, founder, Protected Tomorrows, Inc.
Protected Tomorrows, Inc. is dedicated to enhancing the lives of families with members who have special needs. Protected Tomorrows helps ensure the well-being of a loved one by creating a Future Care Plan™ that addresses the many concerns of these families, such as future care funding, government benefits, legal considerations, residential options, employment opportunities, recreational choices, education options and family communication.


10:45-11:45 a.m. – Meet-Up for PKAN Families - Facilitator: Sarah Doerr
Opportunity to speak openly with others living with or caring for someone who has the same disorder. We ask that those with other affiliations, such as researchers, industry representatives, etc., not attend these sessions.


10:45-11:45 a.m. - NBIA Adult Sharing Session – Tina Cadavid, LISW
(NBIA Adults only – no family members)


12:00-1:00 p.m. – Social Hour
Open time to talk and catch up with other NBIA families.


SATURDAY, MAY 22

8:00-9:30 a.m. – BPAN Research Update*

  • Young Ah-Seo, Ph.D., University of Michigan
  • Penny Hogarth, M.D., Oregon Health & Science University
  • Robin Ketteler, Ph.D., University College London
    *The agenda will be updated as other researchers confirm their participation.

8:00-8:45 a.m. – INAD/PLAN – Opportunities for Families in Research
Family/patient involvement is especially important in the quest to find treatments for rare disease. There are many ways PLAN/INAD families can get involved with research in order to help researchers and scientists better understand INAD and its impact on patients and families. Join us for an interactive discussion with Allison Gregory from Oregon Health and Science University, who will discuss the importance of the PLANready Natural History Study, and provide information about enrollment. Also, families will hear from Dr. Dan Paull, PhD at the New York Stem Cell Foundation Research Institute about the INAD Biobank, its impact on advancing research, and how to contribute to the collection of blood and tissue samples. There will also be time for Q & A from participants.


8:30-9:15 a.m. – Prairie Haus – From Vision to Reality: Charting a Family Led Path for Independence and Inclusivity
Speakers:
Susan Wallitsch and Mary Anne Oemichen
From Vision to Rendering to Reality: Join the co-founders of Home of Our Own, a non-profit corporation that was instrumental in creating Prairie Haus, a first of its kind integrated and affordable rental community in rural Wisconsin. Find out how this grass roots group of dedicated families began with an idea and the willingness to work hard, and ended up solving the problem of where their adult children with autism and other disabilities could live and comfortably call “home.” In this presentation, you will learn how the group formed and operated, how it created strategic partnerships to make this $9 million project a reality and what the future holds for Prairie Haus’ residents.


9:00-9:30 a.m. – INAD/PLAN – RT001 Development Efforts and the INAD Rating Scale (INAD-RS)
A phase 2/3 of a study* to evaluate the safety and efficacy of Retrotope’s investigational drug candidate RT001 in patients with INAD is underway. Dr. Paldeep Atwal and Sarah Endemann from Retrotope will be joining us to discuss RT001’s mechanism of action and provide an overview of the clinical trial study design. They will also share information about their INAD prospective natural history study and their efforts to develop the INAD-RS, a novel neurological assessment scale for INAD, that demonstrates strong correlation with disease severity and disease progression. *Clinical trial results are not expected until mid-2021. No questions will be answered pertaining to the results of the study.


9:15-9:30 a.m. – Meditation


9:30-10:15 a.m. – Path to Success:  Advocating for your Child at School
Speakers:  Valerie Theile, M.Ed, and Lenora Nardelli, M.Ed, School Intervention Specialists, Cincinnati Children’s Hospital Medical Center
Across the United States and around the world, school systems look different. The path to navigate these school systems and advocate for a child’s school success can sometimes be a long and windy road, with the possibility of road bumps, detours and even dead ends. Come travel the road to success as we explore tools and resources to help you be your child’s best advocate. The panel discusses types of supports and educational plans needed for success, as well as ways to creatively collaborate with the school when roadblocks arise.  Speakers also discuss how to maintain a positive relationship amid challenging situations.


9:45-11:00 a.m. – INAD/PLAN – Research Overview and Updates Panel with Q&A opportunity for Families
In this panel session, INAD/PLAN families will hear directly from scientists who are actively conducting research towards understanding the disease mechanisms of INAD and advancing therapeutic treatments for PLAN/INAD.  Panelists include: Drs. Manju Kurian and Ahad Rahim from UCL, who will provide an update on their gene therapy research; Drs. Hugo Bellen and Guang Lin from Baylor College of Medicine, who are working to understand the pathogenic mechanisms of INAD in order to advance gene and cell therapies and towards the development of treatments via compound screening in fly, mouse and cell models. And Dr. Dan Paull, PhD from the New York Stem Cell Foundation Research Institute will be joining to share updates on the CRISPR gene editing and compound screening initiatives being worked on in collaboration with the INADcure Foundation.


9:45-11:15a.m.  – PKAN Research Update

  • Susan Hayflick, M.D., Oregon Health & Science University (OHSU)
  • Suzanne Jackowski, Ph.D., Scientific Advisory Board, CoA Therapeutics
  • Suh Young Jeong, Ph.D., OHSU
  • Penny Hogarth, M.D., OHSU

10:15-10:30 a.m. – Yoga


10:30-11:15 a.m. – Adaptive DevicesSpeaker TBD


10:30-11:30 am. – Meet Up for NBIA Siblings (up to age 10)


10:30-11:30 a.m. – Meet Up for NBIA Siblings (age 10+)


11:30-12:15 p.m. – Storytelling and Advocacy 101: Turn your story into action!
As a rare disease family/patient, you have a unique story to tell. Through storytelling and advocacy, we can raise awareness, educate the public, and influence policy makers to help spur meaningful action. Join Lindsey Cundiff from Rare Disease Legislative Advocates (RDLA), a program of the EveryLife Foundation for Rare Disease, to learn about issues impacting rare diseases, the many types of advocacy, and tips for sharing your personal stories. Learn how you can get started and where to find helpful resources designed to help get your message out – all in a way that is comfortable to you!


12:00-1:30 p.m. – MPAN Research Update*

  • Susan Hayflick, M.D., Oregon Health & Science University
  • Marta Skowronska, M.D., Ph.D., Institute of Psychiatry and Neurology, Poland
  • Susanne Schneider, Ph.D., University College London
    *The agenda will be updated as other researchers confirm their participation

12:30-1:30 p.m. – NBIA Disorders Association 25th Anniversary Celebration
Join DJ Mike Cohn for a dance party extravaganza. Prizes will be awarded to best dancers and NBIA dancers' video will be shown.


SUNDAY, MAY 23

8:00-9:00 a.m. – FAHN Research Update

  • Susan Hayflick, M.D., Oregon Health & Science University
  • Jinkai Luo, M.D., University Medical Center, Rostock, Germany
  • Sunita Venkateswaran, M.D., University of Ottawa, Canada

8:00-9:00 a.m. – Fundraising and Awareness Campaigns in a Virtual World
Speakers:  Amber Denton, chair, NBIA Disorders Association Development Committee and Allison DiPerte, Social Media & Fundraising Manager, INADCure Foundation

Did you know that you can help NBIA Disorders Association and the INADcure Foundation with their mission to cure all NBIA disorders? This work is not possible without critical fundraising and awareness campaigns from our families and their communities. This session will give you virtual tools and strategies to begin or grow your fundraising endeavors. Learn how to use social media, affiliate marketing and personal connections to help you reach your goals and direct critical resources to the NBIA Disorders Association and the INADcure Foundation. 

 

9:00-10:00 a.m. -  FAHN families clinical group meeting with Drs. Sunita Venkateswaran, Susan Hayflick, Jenny Wilson and Allison Gregory, genetic counselor. 

Leading experts on FAHN share information on the latest clinical information in treating disease symptoms and other therapies. They also address questions conference participants submitted before the conference. 


 9:15-10:00 a.m. – Helpful Apps for Children and Families with Special Needs
Speaker:  Daryn Ofczarzak, M.A., CCC-SLP, Speech and Language Pathologist, Easter Seals of Greater Houston
Get a brief introduction to apps for communication, entertainment, education and mental health for children with special needs and their families.  In addition, hear tips and tricks on how to use these apps and a tour of bridgingapps.org resources (undefined), including the App Search Tool to help you find apps for you and your family)


10:15-10:45 a.m. – Small Molecule and Gene-based Therapeutic Strategies for PKAN
Speaker:
Choukri Ben Mamoun, Ph.D., Yale University
Dr. Mamoun won the “Best Presentation” award in Yale Lifesciences PITCHFEST 2020 for his work on a possible cure for pantothenate kinase-associated neurodegeneration (PKAN).


11:00 a.m.-12:00 p.m. – Research Overview
Speaker:  
Dr. Susan Hayflick, director, NBIA Disorders Association Scientific & Medical Advisory Board
Dr. Hayflick  provides an overview of the research  taking place in all NBIA disorders  and discusses how research in one area impacts other disorders.


12:00-12:15 p.m. – Closing - with Conference Video Highlights

 
Memorial Tribute available for viewing anytime during the conference

2021 Conference Menu