Families and researchers fight rare disease together

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Professor Diana Baralle’s research team is joining forces with affected families and other researchers to improve the diagnosis of a rare genetic disorder that affects the brain.

In 2014, a child came to Professor Baralle’s clinic with severe developmental delay whose parents were looking for a diagnosis. Through a genetic research study, she found the child had a mutation in the PURA gene, a gene not previously associated with human disease.

After speaking to doctors with similar patients, she discovered other patients with mutations in this gene shared similar traits, and along with Dr Hunt, went on to describe a new rare genetic disorder - PURA syndrome.

Since then, her team has worked with researchers to build an international network and with affected families to set up a patient foundation, and are now setting up a global patient registry of PURA patients to help find out more about the condition and improve diagnosis and management.

About PURA syndrome

Newborn babies with this PURA syndrome tend to be very floppy, which can lead to problems with breathing and feeding, and excessively sleepy, to the point that they won’t wake for feeds. They have severe developmental delay, meaning it takes them longer than usual to walk and talk.

“Many of them never walk, many of them don’t talk and they can have seizures,” explains Professor Baralle, professor of genomic medicine and consultant in clinical genetics.

Working together

The PURA Syndrome Foundation, now a registered charity, has grown from just a handful of cases in the UK and USA to an international community with over 295 patients.

It hosts an annual conference for clinicians, scientists and families, where they come together to discuss ways of managing the condition and the latest research.

The research network has teams in the USA, UK, Germany, the Netherlands and Denmark, each investigating a different aspect of the condition. They collaborate to share their resources and results so they can understand more about the condition.

Making a difference

Through the work of the foundation and network, researchers and families have been able to come together to improve the lives of the children with PURA syndrome.

"My involvement with an international foundation that advocates research into my daughter’s condition has allowed my family to more effectually focus our attention and efforts in management of her condition,” said Dominic Spadafore, father to Vincenza (pictured).

“She is thriving more and lives a better life because of the collaboration between the research community and the foundation."

Posted on Monday 15 July 2019