Schedule

PURA Syndrome 2021 Virtual Conference | June 5–12

 

Over the conference week, we’ll engage in a lot of discussions and have opportunities to ask important questions. We’ll draw on the collective experience and insights of our scientists and families through open dialogue. We’ll have open and important conversations, learn from the experts and each other and uncover the inspiring people who are part of our community. All times listed are in ET. Schedule is subject to change.

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Saturday, June 5, 2021

12:00 PM

Opening Performance

 

12:30 PM

Welcome and Opening Remarks

Amanda Shanks

1:00 PM

Overview and Introduction to the Global Research Network

Dierk Niessing

1:30 PM

Do you always mix up what genes and proteins do? Do you need a really simple explanation of what the cause of the PURA syndrome is? Then this is the right session for you! Join the Niessing lab on a very basic tour through our genome, the protein machines that shape us humans, and the question what has gone wrong in the genome of a PURA patient. We will also tell you a little bit about why stem cells are so cool and other aspects we find really interesting. Don’t worry, we will try to keep it as simple as we can!

3:00 pm

What You Need in Your Toolkit – PURA 101

Lisa Johnson
Jennifer Bierling
Jennifer Herold
Barbara Melendi
Kate Smith
Phil Smith

Looking for advice and inspiration about parenting with PURA? Join us as we share some tips and things we’ve learned along the way- what we’ve tried, what worked and what didn’t turn out so great! This session is ideal for new families and all families looking to add to their own toolkits.

4:30 pm

Virtual Pub Night

 

Grab your favorite beverage or mix up a special conference signature cocktail and join us at the virtual pub to greet old friends, researchers and welcome new families. Join all the conversations as you “bar hop” between virtual rooms. Each room will be hosted by a PURA parent, one of our researchers or a PURA board member.

Sunday, June 6, 2021

11:00 AM

Welcome Coffee for New Families and Old Friends

Trade your pint for coffee, a mimosa or other desired beverage and welcome our new families to this extraordinary community of support and inspiration.

12:00 PM

The Power of YOUR Story

Parvarthy Krishnan

The Power of YOUR Story: Have you ever wondered what advocacy means? Have you ever wondered how to make the most of this rare life you live? Join in for this talk to learn about what being an advocate means and how YOU can make a difference in this world by sharing your story!

1:00 pm

Introduction to Epilepsy

Richard Leventer

2:00 pm

PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Katrine Johannesen
Guido Rubboli

The aim of this study was to define and expand the phenotypic spectrum of PURA syndrome by collecting data, including EEG, from a large cohort of affected patients. Data on unpublished and published cases were collected through the PURA Syndrome Foundation and the literature. Data on clinical, genetic, neuroimaging and neurophysiological features were obtained. In total, a cohort of 142 patients was included.

3:30 pm

Epilepsy Questions and Answers

Richard Leventer

Monday, June 7, 2021

10:00 AM

Regional Meet Ups

 

Spanish Speaking, Caroline Thorpe
English Speaking (UK), Mel Wardhaugh
Italian Speaking, Francesca Greco
German Speaking, Jennifer Herald
French Speaking, Vivien Cressent

12:00 PM

When the Stress of the NICU/PICU Goes Away, Trauma May Last

Casey Jones

This is a pre-recorded session. Please submit questions here and they will be answered via email following the conference.

1:00 pm

We Go Together: Music and Books

Melissa Reinhardt

“Mrs. Melissa” Reinhardt, MSEd, MT-BC, Neurologic Music Therapist looks forward to virtually sharing theme based music activities including listening, making music, movement, singing and songwriting. This session will provide opportunities to involve the whole family and will focus on learning creative ways to use music in everyday activities to promote engagement, interaction and learning in a creative and expressive manner. Ways to adapt music based activities for children of different ages/abilities will also be presented. Participants will learn ways to incorporate music into family/group activities to promote early literacy skills. This session is ideal for younger children.

 

2:00 pm

Genetics, Known Facts and New Insights

Diana Baralle
David Hunt

3:00 pm

Patient Registry and Biobank

Diana Baralle
David Hunt

4:30 pm

The Power of Therapy – A Multidisciplinary Approach

Lisa Murphy
Melissa Vaught
Todd Vaught

5:30 pm

Regional Meet Up – U.S.

 

Tuesday, June 8, 2021

12:00 PM

JPC Community Farms – A Place That Makes a Difference in People’s Lives

Julie Connaughton
Paul Connaughton

1:30 PM

Music for Connection and Communication I

Miriam Tart

“Mrs. Miriam” Tart, MMT, MT-BC looks forward to connecting with teens and their families to utilize music and music improvisation in a hands-on learning environment that engages the senses and promotes communication and wellness. Additionally, these sessions will encourage families to explore their own musical identities as individuals and a family unit to promote connection and growth. Family will explore ways to utilize rhythm and music to promote movement for health and wellness.

2:00 pm

Getting Into Your Child’s World: Speech and Language Therapy

Rachael Rose

Difficulty learning to verbally communicate is a key characteristic of PURA syndrome. Parents and speech therapists alike are learning how to encourage verbal communication in the PURA population. Every member of the PURA community is unique and each is writing their own story, but they need a team. In this talk, you will learn how you can build the right speech therapy team for your child. You will learn the hierarchy of speech and language development. You will be introduced to speech therapy techniques that apply to your child. Finally, you will be provided with a guide for choosing the right speech-language pathologist for your child.

4:30 pm

Advocacy Advice: “No” is Just the Beginning

Lisa Johnson
Joanna Horsnail
Heather Bowie
Brett Morris

In this session we will discuss the ways parents and other caretakers can seek the necessary resources for their children – and even how to change the landscape when there are barriers to getting the things that you need.

5:30 pm

Meet Up: Residential Options – The Emotional, Practical and Logistical Considerations and Perspectives

Kristin Erickson
Melissa Vaught 

In this meet up, Kristin and Melissa will discuss how and why they chose the long term care options they did for their PURA child. Designed as an open and honest conversation, we welcome your thoughts and participation in a private forum. This session will not be recorded.

Wednesday, June 9, 2021

11:00 AM

Financial Planning

Anthony Ruzzo
Nicholas Lambros

12:30 PM

From Chaos to Connection: Finding Connection with Your Partner in Stressful Times

Lori Epting

The research is clear and consistent in teaching us that stressors in our lives can have a detrimental impact on our relationships. Fortunately, research also teaches us that there are ways to stay secure and connected in our intimate relationship with our partners even in times of significant stress. In her practice as a couples counselor, Lori has worked with hundreds of couples through some of the most significant life stressors to help their relationships become and stay a place of comfort, support and connection. In the session particpants will learn 1.) Common relationship struggles couples experience when they face significant life stressors, 2.) Tools and strategies couples can use in their everyday lives to effectively communicate and resolve conflict 3.) How to respond to stress in a way that connects partners rather than letting the stressors divide them and 4.) Additional resources to help strengthen and build connection for the years to come.

2:00 pm

Stem Cells and Beyond – What We Know About PURAs Function in the Cells

Sabrina Bacher
Lena Molitor

We will present ongoing research in our lab at the Helmholtz Zentrum München – German Research Center for Environmental Health. Our overall goal is to uncover and understand the molecular mechanisms that underlie PURA syndrome. Towards this aim, we have generated cells that lack PURA and compare them to healthy control cells. We analyze PURAs interactions within the cell and try to understand the cellular function of PURA by depleting it. Additionally, we have obtained skin cells from PURA patients that we can now transform to stem cells, so called induced pluripotent stem cells (iPSCs). These iPSCs are a nice model system to understand developmental differences between PURA patient cells and control cells.

4:30 pm

Thursday, June 10, 2021

12:00 PM

The Impact of Our Stories – Perspectives from PURA Siblings

Leo Kittay
TJ Vaught
Sam Napolitano
Emily Overfield

1:30 PM

Music for Connection & Communication II

Miriam Tart

“Mrs. Miriam” Tart, MMT, MT-BC looks forward to connecting with teens and their families to utilize music and music improvisation in a hands-on learning environment that engages the senses and promotes communication and wellness. Additionally, these sessions will encourage families to explore their own musical identities as individuals and a family unit to promote connection and growth. Family will explore ways to incorporate preferred music and use music improvisation to promote communication.

2:00 pm

Take the Lead – Understanding the Benefits of Hippotherapy as a Treatment Tool

Kelly Coney Pacious

This presentation will define hippotherapy and will clarify common misconceptions that occur when comparing hippotherapy to therapeutic riding services. The benefits of utilizing hippotherapy as a treatment tool will be investigated as well as what hippotherapy may look like as part of a comprehensive physical therapy, occupational therapy or speech-language pathology plan of care. Lastly participants will be provided with information connecting them to resources for more information on hippotherapy as a treatment strategy as well as qualified professionals in their area providing services.

3:00 pm

Model Organisms

Annie Godwin

4:30 PM

Watch Party: From the Edge of Hope

Dan Salvo
Laura King Edwards

A film about rare disease and the heroes going to the ends of the earth to create hope where none existed. Follow the bold adventures of a father climbing mountains for his dying boys, a woman running marathons blindfolded in honor of her sister, and a father biking solo across the country and back to raise awareness for the disease that stole his 1-year-old son.

Friday, June 11, 2021

12:00 PM

Finding Your True Self: A Personal Story

Caroline Thorpe

Finding Your True Self; A Personal Story, is a programme developed to embark us on a life journey of personal growth – to provide us with our own toolkit to help us come in contact with our real, true selves and deal with the daily challenges life throws at us more effectively. Join Caroline Thorpe as she discusses her personal journey and explains how the tools she used may help others preserve their own mental health.

2:30 pm

Musical Learning: Supporting Connection & Growth

Melissa Reinhardt

“Mrs. Melissa” Reinhardt, MSEd, MT-BC, Neurologic Music Therapist looks forward to virtually sharing theme based music activities including listening, making music, movement, singing and songwriting. This session will provide opportunities to involve the whole family and will focus on learning creative ways to use music in everyday activities to promote engagement, interaction and learning in a creative and expressive manner. Ways to adapt music based activities for children of different ages/abilities will also be presented. Participants will learn how to use themes in planning music based activities to reinforce cognitive skills.

4:30 pm

Trivia Night

International Trivia Slam, Watson Adventures

This is the team building trivia game for people who don’t like trivia games—and for those who love trivia games. In multiple rounds, teams will tackle a variety of challenges that emphasize teamwork. Even if you think you don’t know the answer at first, a little brainstorming often produces the correct answer—or a darn good guess! It’s even more fun when your guesses pay off. But this game involves more than just trivia questions! Our host/emcee will also guide you through visual puzzles and a scavenger-hunt round. Along the way, you’ll discover some of our PURA families hidden talents and unusual expertise. Best of all, you’ll laugh as much as you ever have in your own home or socially distanced event. Please sign up to attend!

Saturday, June 12, 2021

12:00 PM

Final Elements Panel

Dierk Niessing
Matt Guille

1:00 PM

Closing Remarks

Amanda Shanks