New tools to help diagnose cancers and rare genetic diseases in children
Most people take it for granted that, should they or their child develop a medical condition, they will be quickly and accurately diagnosed – the first step to getting effective treatment. But that is not always possible, particularly in the case of childhood cancers and other rare genetic diseases.
To help address this shortcoming, lead author Patricia Sullivan (pictured) and Luminesce Alliance Advanced Genome and Transcriptome Analytics project team (part of Children’s Cancer Institute Computational Biology Group) have led the publication of three important pieces of research in high-impact international journals.
The suite of new insights and tools available help scientists to identify splice altering variants and whether a variant in a key gene contributes to the disease. This can be a decisive factor in diagnosis and treatment, particularly in cancer and rare genetic diseases.
These new resources assist scientists to identify mutations or changes in a patient’s genes (known as ‘genetic variants’) that may be causing a medical condition or, in the case of a cancer, driving the growth of that cancer.
This information is especially vital for uncovering the cause of rare inherited diseases that often leave patients, parents and their clinician searching for answers.
For childhood cancers, knowledge of the specific genetic variants found in a cancer can now guide clinicians to choose the most effective treatment tailored to the individual child in their care.
Congratulations to the authors on developing this new suite of tools and resources, accessible worldwide at the links below:
Luminesce Alliance has supported the publication of more than 200 children’s precision medicine research papers.
This article is published with the kind permission of Children’s Cancer Institute. You can view the original article here.