PURA Syndrome 2022 Virtual Conference | June 10–13 & 18

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 Eastern Daylight Time (EDT). We have also provided Coordinated Universal Time (UTC) / Greenwich Mean time (GMT) below, but please check your local time zone to the EDT time listed to be sure you have the correct time. Schedule is subject to change.

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Friday, June 10, 2022

4:00 PM EDT


Virtual Scavanger Hunt

Gather your family and join us in a rollicking virtual ride around the world as we search for objects in the most likely and unlikely places! Don’t miss the fun and a chance to team up with other PURA families on this amazing adventure!

5:00 PM EDT


Virtual Cocktail Party

Saturday, June 11, 2022

10:00 AM EDT

2:00 PM UTC

Welcome and Opening Remarks

Amanda Shanks

10:15 AM EDT

2:15 PM UTC

Overview of the Research Sessions

Dr. Bettina Schmid

To view the video of this session, click the Opening Remarks video above and go to the 34:22 time mark.

11:00 AM EDT

3:00 PM UTC


The Kindness Method

Shahroo Izadi

*This session will NOT be recorded*

We’ve seen the kindness, support and compassion you show others. We see how you’ve championed your families and provided them with the affirmation that they’ve needed to adapt and thrive. We’d like to ensure that you’re giving yourself the same things and to give you an opportunity to turn more of that kindness on yourselves – goodness knows, you absolutely deserve it. In this session, Shahroo will demonstrate simple ways that you can create new behaviours of your choosing – ones that last. All you need to do is bring a notepad and pen, as well as some idea of a change you’d like to make. Shahroo then guides you step by step to complete a series of written exercises designed to help you get going – and stay going.

1:00 PM EDT

5:00 PM UTC

Introduction to the GRN (Global Research Network) 

Matt Guille

1:30 PM EDT

5:30 PM UTC

How to Read a Genetic Diagnosis: What do these Cryptic Letters and Numbers Mean?

Dierk Niessing

A genetic diagnosis is usually the start of your journey into the world of PURA. While the diagnostic letter from your geneticist contains important information, it seems to be more of a cryptographic puzzle than an understandable explanation. In this short video, Dr. Dierk Niessing will explain the logic behind it and show you how to interpret such a genetic diagnosis letter.

Submit a Question Here

1:45 PM EDT

5:45 PM UTC

Antibodies against PURA and PURB – Making the Invisible Visible

Sabrina Bacher
Sandra Burczyk
Carolin Ketteler

Antibodies are a crucial component of the immune system, which is a defence mechanism against bacterial and viral pathogens such as SARS-CoV-2. Antibodies can bind to intruding pathogens with high accuracy and mark them for their elimination. Scientists can utilize this feature of antibodies as biotechnological tool to tag cellular components they are interested in and make them visible under the microscope. In this presentation, we will demonstrate how antibodies are used to make the PURA protein or its close relative PURB visible within cells. With the help of a so-called fluorescence microscope, we can observe both proteins in cells. Because cells are divided into compartments with different functions, observing the respective location of these two proteins in the cell can give insights into their functions. Our studies revealed that PURA is primarily located in the cytoplasm and may contribute to transporting molecules across the cell. In contrast, PURB is strongly located in and around the nucleus. The nucleus contains the genetic information in form of DNA and harbors proteins necessary for maintaining DNA integrity and reading the information saved in the DNA strand. Hence, although very similar in their structure, PURA and PURB might take on different roles in the cell. These specific antibodies not only help us to understand PURAs and PURBs molecular function in the cell but also give us the opportunity to investigate patient cells and compare them to healthy cells with non-mutated PURA protein.

Submit a Question Here

4:00 PM EDT

8:00 PM UTC

Successful Feeding Therapy followed by Coffee with Rachael

Rachael Rose


Eating is fundamental to life and the parent-child connection is often formed during feeding times. When eating is difficult, feeding can become the worst part of your day. You may dread mealtimes. You may lay awake at night worrying that your child will never learn to eat.

In this talk, you will learn how children eat. You will also learn what feeding therapy should look like and what to expect from a feeding therapist. Finally, you will acquire techniques to make mealtimes less stressful and more inclusive for your child. You will see, through videos, how Rachael successfully taught one child with PURA to eat.

Sunday, June 12, 2022

9:30 AM EDT

1:30 PM UTC

Self-Care for Caregivers

Angels Ponce

In this talk we explore the importance of self-care when we have a child with special needs. The question to ask ourselves is, how are we caring for ourselves? What kind of care can we offer when we are tired or stressed? We cover the importance of recognizing that our needs are as important as those of the other people we love and are caring for. And one way to ensure that we are capable of caring for them is caring for ourselves in the same manner.

11:00 AM EDT

3:00 PM UTC

Building Your Team: Developing Effective Communication and Carryover

Dana Rosenbloom

The needs of children and families receiving therapeutic support can vary widely. However, the need for communication, consistency, and carryover are universal. During this workshop, you’ll learn the most effective and efficient strategies for working together with your child’s therapists and caregivers, in order to move away from the “silo approach.” We’ll discuss options for finding team members who believe in a collaborative approach and optimal ways for integrating their recommendations into your daily routine.

1:00 pm EDT

5:00 PM UTC

Putting on Your Armor: How to Push Back on Ableist Stigma in The Everyday

Professor Joseph Stramondo

It isn’t just a coincidence that disabled people and their families often have similar experiences of stigma when they go out into public. From Anchorage to Miami, we are ridiculed, mocked, and pitied. This may be surprising since the catch all category of “disability” is so broad and encompasses so many ways of experiencing the world. After all, being autistic is quite different from having a spinal cord injury and having epilepsy is an entirely different experience than having dwarfism. Nevertheless, one experience that we all share and seems to bind the disability community together is that of ableist stigma, the remarkably similar hostile reactions we receive from just existing in the world as disabled. This talk will explore the common characteristics of this stigma, some of its root causes, and strategies disabled people and our families can use when we are subject to it so often. Ultimately, it will be argued that the best thing we can do to resist stigma is create community among ourselves as disability activists and allies.

2:30 pm EDT

6:30 PM UTC

Building Confidence with Body Language and Communication Skills

Juliet Erickson

*This session will NOT be recorded*

This session will focus on a dynamic blend of discussion and data focused on critical communication insights, skills and strategies you can use right away. We will discuss the importance of communication style using the Four-Quadrants tool. You will learn about your personal communication style and how to better observe, identify, and respond to others to build rapport and trust more easily. Body language plays a critical role in your ability to communicate effectively and is key to managing every day and not so everyday situations. By exploring how we form impressions and how to use your body language, you will leave this session better able to communicate confidently, calmly, and persuasively when it matters most.

**In order to prepare for this session we ask that you go to her website at and take her 3 minute quiz to discover your own communication style.**

Monday, June 13, 2022

9:00 am EDT

1:00 PM UTC

Making an Impossible Gene Therapy Possible: Our Pre-clinical Journey for Rett Syndrome (RTT)

Dr. Sarah Sinnett

*This session will NOT be recorded*

RTT is a neurodevelopmental disorder caused by mutations in the dose-sensitive transcription regulator MeCP2. For years, researchers have pursued various strategies to maintain the efficacy of MECP2 gene therapy while mitigating deleterious side effects associated with supraphysiological MeCP2 expression. These challenges have proven to be a catalyst for innovation. Dr. Sinnett’s recent paper in Brain discusses how this innovation can pave the way for treating other rare disorders. Conflict of interest: Dr. Sinnett receives inventor royalties for published intellectual property discussed in this presentation.

10:00 am EDT

2:00 PM UTC

Roundtable Parent Discussion: The Impact of External Factors on Our Children’s Health and Behavior

Caroline Thorpe
Melissa Vaught

*This session will NOT be recorded*

Together we are stronger and we are always stronger when we share information. This session is an opportunity for parents or caregivers, to share and learn from each other about different experiences we have had in which external factors have been a key element in their PURA child’s health or behaviour.

To help us prepare for this interactive session, please submit any questions, successes, failures, or other personal experiences you have had as we all travel this PURA road together. Your insights will help start the conversations!

11:00 AM EDT

3:00 PM UTC

Feedback from the PURA Syndrome Global Patient Registry

Diana Baralle
David Hunt

The PURA syndrome global patient registry was formally launched in January 2022. Dr Hunt and Prof Baralle will explain why the patient registry is important, how it operates and what it is expected to achieve in the long-term. Although still in its infancy, some early feedback will be provided from the data collected over the first few months of operation.

12:30 PM EDT

4:30 PM UTC

Promoting Health, Healing, and Well-Being through Food is Medicine

Dr. Terry Hamlin
Jennifer Franck


Food is Medicine® is The Center For Discovery’s philosophy that brings together farmers, chefs and nutritionists to cultivate a food program that promotes health, healing, and quality of life among our students and those who reside here. Long ago, we understood the power of food and the relationship between health and nutrition, which has been at the forefront of our care model for decades. Now more than ever, as we continue our revolutionary research on the ways in which food can be employed to promote health, healing, and well-being, The Center for Discovery® is in a unique position to share this philosophy with the world.

2:00 pm EDT

6:00 PM UTC

The Great Therapeutic Possibility: Trials and Tribulations

Dr. Jessica Duis

Dr. Jessica Duis will present on the potential avenues of therapeutic development and where we might meet some challenges as the field inches towards personalized medicine.

3:30 pm EDT

7:30 PM UTC

Neonatal Hypotonia and the Diagnostic Quest: The Perspective of a Neonatalogist and Neuromuscular Specialist

Dr. Stanley Iyadurai
Dr. Rita Wyrebek


Neonatal hypotonia poses a challenging clinical dilemma owing to the multitude of possible diagnoses that can be either central or peripheral in nature. The first diagnostic modality available to the treating physician is the physical exam which can often help elucidate the underlying pathology, which is supported by the perinatal history, laboratory and genetic investigations, and brain imaging. Among the challenges faced by treating clinicians include: evolution of the neurological exam, multiple confounding factors in the perinatal history (infection, perinatal depression, resuscitation), long turnaround time of genetic tests, and nonspecific test results. We present the case of a child that was ultimately diagnosed with the rare PURA syndrome and demonstrated a typical constellation of clinical features such as hypotonia, apnea, hypoventilation, poor feeding and temperature dysregulation. The child underwent multiple diagnostic (video EEG, oropharyngeal swallow study, airway evaluations, polysomnogram, muscle biopsy, genetic testing, brain imaging) and therapeutic interventions (Nissen fundoplication, gastrostomy tube placement, pyridostigmine initiation) to progress with care and ultimately underwent an electromyography with nerve conduction study which was abnormal.

Tuesday, June 14, 2022

20:00 Madrid time

Meet-up – Spanish Speaking

*This session will NOT be recorded*

¿Eres de habla española? Únete a nuestro meet-up en la que tendremos a Angels Ponce como invitada. Tenemos la oportunidad de compartir con ella y poder hacer preguntas directamente a ella. ¡Es una oportunidad que no te puedes perder!

Wednesday, June 15, 2022

4:00 pm EDT

8:00 PM UTC

Meet-up: Caring Together

*This session will NOT be recorded*

Join Jesse Jude in her first meet-up to start off her amazing role with The PURA Syndrome Foundation and find out exactly what she will be doing for us all. You do not want to miss it.

Thursday, June 16, 2022

6:00 pm UK Time


*This session will NOT be recorded*

Join Mel Wardhaugh in this amazing meet-up to be able to share ideas and plans as to how she could help you all in the UK. So many ideas come to mind! Join her and don’t miss out on this opportunity to be a part of the start off of this adventure.

Saturday, June 18, 2022

11:00 AM EDT

3:00 PM UTC

Final Elements Panel

Bettina Schmid
David Hunt