Genetic Based Rare Diseases

About genetic-based rare diseases

There are 3  billion letters in every individual's DNA code. Differences in some of the letters on your DNA code determine how you look. Other differences may affect your risk of certain diseases.

Your underlying risk of common disease like Type 2 diabetes or heart disease are determined by a combination of variation in lots of letters in your DNA code.

Tèa has a rare error in just 1 error in her 3 billion letter DNA code. That's like looking for a needle in a haystack.

Finding the genetic cause of rare diseases

Until now, it has been difficult to find the underlying cause of most rare diseases. This means that patients and their families are often left with an indefinite or, at best, suggested diagnosis.

Tèa's rare disease was diagnosed using a technique called next generation (Next Gen) DNA sequencing. This allows researchers to very rapidly real all the letters of the DNA code that make up the blue print for life.

The cost of NextGen sequencing has been dramatically reduced by new technologies since the first human genome was sequenced just over a decade ago.

Tèa's DNA was sent overseas to be sequenced. Now the team at Genetic Services of WA has access to the technology to allow the sequencing to be done here in Perth.

At present, the genetic basis to rare diseases is only identified in approximately 25-35% of cases where NextGen sequencing has been performed. This is for reasons that include limitations of current computational tools.