30 years on from discovering the gene

Feature - N/A - 08/09/2019

On this day thirty years ago, two scientific reports were published describing the CFTR gene, the gene that causes cystic fibrosis (CF). Its discovery led to advances in the care and treatment of people with CF, but some of its secrets are still to be uncovered. Here are five things that are happening as a result of those important reports.

1. Testing for CF at birth

Parents of every baby born on the NHS are offered a series of new born screening tests. This includes taking a blood test when the baby is a few days old to test for rare diseases (known as the ‘heel prick test’). In 2007 testing for CF was included as part of this test. The Trust campaigned for CF to be included in the heel prick test and it wouldn’t have been possible at all without the discovery of the gene.

2. Testing for CF when having children

If CF runs in the family, it’s possible for couples to be tested to see if they carry the CF gene before trying for a baby. If both parents are carriers, they may choose to have a special type of IVF called ‘PGD’ or ‘PGH’ where only unaffected embryos will be implanted. PGD or PGH techniques are only possible thanks to the discovery of the CF gene. Read more in the family planning section of our website.

3. Precision medicines

Precision medicines are drugs (such as ivacaftor, lumacaftor and tezacaftor) that can treat people with CF with specific CF genotypes. The development of these drugs wouldn’t have been possible before the discovery of the CFTR gene. In addition, the way these drugs are designed to act on the CFTR protein was very novel to the pharmaceutical industry, and helped them to develop a new mould for future drug development beyond cystic fibrosis.

4. Gene therapy

Within a year of the CF gene being discovered, there was a lot of optimism that CF could be treated with gene therapy. Sadly, gene therapy is not yet a reality. One of the difficulties has been working out the best way to deliver the gene in the body. It is an area of research that the Trust has invested in in the past and continues to fund in the hope that one day a viable gene therapy treatment can be developed.

5. Therapies for rare mutations

The current licenced precision medicines and those being considered for approval can treat around 95% of people with cystic fibrosis. However, this leaves around 5% of people with CF with extremely rare gene mutations (sometimes genotypes belonging to less than 5 people in the UK) for whom these drugs don’t work. The Trust is actively funding a number of research projects to develop alternative ways to treat these forms of CF, including designing drugs to affect other proteins that could compensate for the lack of CFTR, and funding gene editing studies with the aim of correcting the mutations.

For more information on how the gene was discovered, and what the CF gene discovery has led to, see the articles ‘The CF gene turns 30’ and ‘How the CF Gene helped shape research’ in the Spring 2019 issue of CF Life magazine.