All you need to know about CRELD1, the rare condition affecting only three children in the UK

Any changes to the CRELD1 gene can cause an extremely rare genetic disorder. Credit: Creld 1 Warriors

CRELD1

CRELD1 is one of the rarest genetic conditions in the world. There are currently only 3 children in the UK diagnosed with the condition and 28 worldwide.

CRELD1 stands for Cysteine Rich with EGF Like Domains 1.

It’s a protein coding gene and new evidence now proves that any changes to that gene cause an extremely rare genetic disorder.

These changes trigger a wide range of complications including heart issues, seizures, respiratory issues and neuromuscular complications.

Currently there is no known cure.

The complex condition has many symptoms, but the seizures are the most debilitating, and some children have up to 200 a day.

But it also causes heart issues, developmental and cognitive delay, hearing loss, immature eye development, respiratory issues and immune dysfunction.

Symptoms

According to Creld 1 Warriors new types of sequence changes in different parts of the CRELD1 gene can cause an extremely rare genetic disorder, when both copies of the gene don’t function properly.

This manifests as a wide range of neurodevelopmental disorders, ranging from mild movement disorders to severe developmental and cognitive delays.

There are six things that are known to be associated with CRELD1-related disorder:

  • ​Heart issues - atrioventricular septal defect (AVSD)

  • Neuromuscular issues

  • Seizure activity

  • Global developmental delay and cognitive delay/ learning differences

  • Respiratory issues

  • Immune-related issues.

Genomic testing for people in the south east is run by Guy's and St Thomas' NHS Foundation Trust Credit: Google Maps

Research for a cure

There is currently no known cure for CRELD1.

Last year the findings of a study were published which revealed changes to the CRELD1 gene are the cause of an extremely rare genetic disorder.

The discovery is thanks to the tireless work of the Clatworthy family.

They have been part of the research study with Yale University School of Medicine, GeneDx and several UK Clinical Geneticists including Professor Sanjay Sissodiya from University College London and Dr Frances Elmslie from St. George’s Hospital in London.

The findings of the study involved researchers utilizing next-generation DNA sequencing, gene knockdown, and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells.

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