Schedule

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.

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.

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.

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.

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.

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.

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.