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WES uncovers mutations for rare paediatric diseases

Using whole-exome sequencing (WES), researchers have identified underlying variants in children with rare genetic paediatric diseases.

Rare genetic paediatric diseases

Although rare genetic diseases are individually uncommon, they collectively impact significant numbers worldwide. There are approximately 7,000 rare diseases that affect around 250 million people. These disorders encompass a spectrum of complex clinical manifestations that can be difficult to diagnose and pinpoint causation.

Unfortunately, clinics within developing countries are not currently equipped with technologically advanced health facilities to effectively diagnose and treat rare disease patients. In Bangladesh, genetic tests are not widely used in a clinical setting and are mostly used in research. The current standard of care in most developing nations does not include first-tier genetic testing.

WES is both an effective and efficient method to detect genetic defects underlying hereditary diseases. Early diagnosis of rare diseases can shorten a patients’ diagnostic odyssey and also lead to early targeted therapeutic intervention.

WES in Bangladesh

In this study, published in npj Genomic Medicine, researchers performed WES in five unrelated patients from Bangladesh with rare genetic diseases referred for clinical assessment. These patients were referred due to complex clinical presentation.

The team reported seven extremely rare recessive variants that are potentially causal in a range of genetic diseases. These specifically included DHH-associated 46,XY gonadal dysgenesis, GNPTAB-associated mucolipidosis II alpha/beta, BBS1-associated Bardet–Biedl Syndrome, SURF1-associated Leigh Syndrome and AP4B1-associated spastic paraplegia-47. Their analysis detected three homozygous and two compound heterozygous variants. All mutations were also validated by Sanger Sequencing.

This study adds to the genetic landscape of rare genetic diseases. It is also the first report elucidating the genetic profile of rare genetic disease in the Bangladesh population. Most importantly, these findings add to the ongoing evidence demonstrating the utility of WES as a first-line diagnostic approach in patients lacking a clear diagnosis. This approach can also facilitate the identification of rare genetic diseases, accelerate rare disease research and ultimately help implement precision medicine.

Image by Thor Deichmann from Pixabay

More on these topics

Genetic Variants / Rare Diseases / WES