PURA Syndrome 2023 Conference | June 23–25

Over the conference weekend, 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 UTC +1 (Coordinated Universal Time) / GMT +1 (Greenwich Mean time) below, but please check your local time zone to the time listed to be sure you have the correct time. Schedule is subject to change.

Submit a Question

Friday, June 23, 2023

2:00-6:00 PM UTC+1/GMT+1

Check in and Greetings

4:00-6:00 PM UTC+1/GMT+1

Afternoon Tea and Meet and Greet

4:00 PM UTC+1/GMT+1

Virtual Meet and Greet

This session has been created so our virtual conference participants have the opportunity to meet or catch up with each other in a social environment. We will
spend this session getting to know each other and sharing our stories and experiences. We would also like to receive feedback from our PURA community to
help us move forward together. We can’t wait to see you all.

6:00-7:00 PM UTC+1/GMT+1

Do you sometimes mix up what genes and proteins do? Do you need a really simple explanation of the cause of the PURA syndrome? Then this is the right session for you! Join us on a very basic tour through our genome, the protein machines that shape us humans, and the question of what has gone wrong in the genome of a PURA patient. Don’t worry, we will try to keep it as simple as we can! In addition, we will have a brief announcement on the Patient Registry and Biobank.

7:00-8:30 PM UTC+1/GMT+1

Welcome Dinner

8:00 PM UTC+1/GMT+1

PURA Community Social Time

Saturday, June 24, 2023

8:00 – 9:30 AM UTC+1/GMT+1


For registered hotel guests only

Research Sessions I: 8:45 am to 10:45 am

What the PURA Foundation is doing to support research and how you can be a part of it

Introduction and Overview of the GRN
Dierk Niessing

Understanding Patient Variants and Atomic Resolution
Robert Janowski

In patients with PURA Syndrome, almost every pathological sequence variation results in the full spectrum of disease symptoms. This observation is surprising as the sequence variation’s type and position in other genetic disorders often dictates the resulting disease symptoms. We investigated the effects of different PURA Syndrome-causing sequence variations on the function of the PURA protein. Analyses of the protein at atomic resolution allowed us to provide an explanation for why almost all mutations of patients show the full penetrance of symptoms in PURA syndrome.

Aquatic Model Organisms
Bettina Schmid

Animal models are an important tool to study disease mechanisms and to search for cures. Aquatic animals, such as fish and frogs are genetically easily accessible to generate disease models and are similar to humans in the way their body works. We will present our latest findings on the frog and a fish model for PURA syndrome.

Big Data for Small Variants with Big Impact
Kathi Zarnack

Small mutations in the DNA sequence, such as those observed in the PURA gene, can have profound consequences on the human body. However, the intricate molecular networks within cells make it challenging to grasp the individual effects of these mutations. Recent breakthroughs in DNA sequencing technology now enable the generation of vast amounts of data, comprising millions of data points. I will explain what type of data we can generate and why computational tools are indispensable to navigate this sea of information, empowering us to decipher complex molecular interactions and identify key regulatory mechanisms.

10:45 AM UTC+1/GMT+1


Research Sessions II: 11:00 am to 12:00 pm

PURA Syndrome – Emerging Clinical Features, Treatment Approaches and Therapy Development
Dr. Jim Dowling (via zoom)

Since the elucidation of the first patients with PURA Syndrome, numerous additional cases have been described that provide a more complete picture of the clinical aspects of the condition. This includes the continued identification of new and additional features of the disease, such as the emerging phenotypes attributable to dysfunction of the peripheral nervous system and the skeletal muscle. In this presentation, I will highlight both the core and newly appreciated aspects of the syndrome. In addition, the presentation will reflect on the correlation with genetic findings, and discuss potential therapeutic avenues currently available to mediate some of the aspects of the condition. Lastly, I will discuss novel pre clinical treatment initiatives, including our work related to developing a multi species drug discovery and development pipeline.

Registry and Biobank: Where Are We?

David Hunt
Dierk Niessing

12:00-1:30 PM UTC+1/GMT+1


2:00-3:15 PM UTC+1/GMT+1

Acceptance: The Good the Bad and the Ugly

Eva Kittay

This session will not be available via zoom and will not be recorded.

In this session we invite parents and family caregivers to gather in small group discussions where we can share both our PURA joys and the inevitable difficult moments. Having a PURA child often intensifies experiences of parents generally, and in ways that few without these experiences understand. The hard moments may be for example times when we struggle with acknowledging our child will not have the typical trajectory of most children, nor will we have the course we expected as parents. They may be times we’ve faced the lack of acceptance of friends or, more painfully, other family members. Then there are the medical issues that often accompany the PURA Syndrome, such as scoliosis, temperature control, seizures, and the difficulties in dealing with doctors, nurses and therapists who don’t understand our children. At the same time, our beautiful, atypical children will be a source of great joy, something that those outside our circle often fail to appreciate. Our children are different, as are we as parents, but together we can not only share our pleasure and pride in them, but also voice our concerns and offer support to each other. Together we can be stronger, for the sake of our children and for ourselves. Please join us.

3:30-4:30 PM UTC+1/GMT+1

PURA, Power and Social Change

Julie Battilana (via zoom)

In this talk, Julie Battilana, whose sister Emilie was diagnosed with PURA a few years ago, will discuss how her experience growing up with her remarkably inspiring sister set her on a journey to support social change makers through her research and academic work. Through her teaching at Harvard and as the Founder and Faculty Chair of the Social Innovation and Change Initiative, Professor Battilana has taught and worked closely with hundreds of change makers and leaders in social innovation across multiple sectors over the past years. Building on this work and nearly two decades of researching the politics of change in organizations and society, she will share her insights into what it takes to succeed in pushing for change. Specifically, she will discuss what power really is and what it is not, as well as how to identify your own sources of power. This discussion will help you understand and navigate power in your relationships, organizations, and society and see power not as dirty business, but instead as energy that can be used for good.

4:45-5:30 PM UTC+1/GMT+1

Gene Therapy

Dr. Darek Gorecki

Gene therapy aims to cure or mitigate disease features. It is versatile, with applications aimed at previously untreatable recessive and dominant genetic diseases, various cancers and vaccination, that has received considerable attention because of COVID. The field has made significant progress, and gene therapy will have positive impacts on the lives of patients. Yet, a number of hurdles remain to be overcome. The progress, prospects and challenges will be discussed.

5:30-6:30 PM UTC+1/GMT+1

Outdoor Session: We Walk Together


This session will not be available via zoom and will not be recorded.

7:00-8:30 PM UTC+1/GMT+1


8:00 PM UTC+1/GMT+1

PURA Community Social Time

Sunday, June 25, 2023

8:00-9:30 AM UTC+1/GMT+1


For registered hotel guests only

9:00-10:30 AM UTC+1/GMT+1

Final Elements Panel

10:30-11:30 AM UTC+1/GMT+1

Parenting a Disabled Child in a World of Disabling Barriers

Tom Shakespeare (via zoom)

What barriers do children with disabilities face? What do parents need to know or soon discover? This session will explore how to be a good advocate for a child with complex disability, and how to overcome as many as possible of the barriers that the world creates.

11:30 AM-12:00 PM UTC+1/GMT+1

PURA Foundation Update

12:15-1:30 PM UTC+1/GMT+1

Lunch with Final Remarks and Closing