Four-week-old Tommy Parry is one of only 23 in the world ever to be born with the mitochondrial gene, which impairs his ...

Study highlights use of techniques such as long-read genome sequencing, optical genome mapping, and RNA sequencing for rare disease diagnosis.

GeneDx CEO Katherine Stueland likes the potential of newborn testing, but she says her Stamford, Connecticut, company is ...

A study led by UCL found that individuals with rare diseases were five times more likely to die from Covid-19 than the ...

In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches—gene therapy and ...

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost.

The fatty membrane surrounding every living cell is a vibrant environment where countless biological processes take place.

In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches -- gene therapy ...

Citation: Long read sequencing reveals more genetic information while cutting time and cost of rare disease diagnoses (2025, January 24) retrieved 7 February 2025 from https://medicalxpress.com ...

Long-read sequencing is being harnessed to improve the rate of rare disease diagnosis. Researchers at the University of California Santa Cruz (CA, USA) have demonstrated that long-read sequencing (LRS ...

Rare diseases are typically due to genetic causes. These causes are more and more often identified using genome sequencing techniques. Genome sequencing examines the entire genome of an individual ...