Diseases such as sickle cell disease in which the person’s genes direct the production of abnormal hemoglobin can be corrected by editing the person’s genes. Seems futuristic, but it isn’t.

The team at RCM Health Consultancy led by Raymond Rupert, a patient advocate and healthcare consultant, advocated for an 11 year old girl from Barbados with sick cell disease.

Our job was to find a cure. One approach to finding a cure for sick cell disease was using a revolutionary gene editing tool called CRISPR.

Drs Emmanuelle Charpentier and Jennifer Doudna just won the Nobel prize for their discovery of CRISPR.

This tool makes it possible to alter the DNA of “germ line” cells that pass the human genetic code on to future generations.

CRISPR has been used by teams around the world in developing future therapies for very severe diseases such as sickle cell disease.

HCA Healthcare’s Sarah Cannon Research Institute Center and the Children’s Hospital at TriStar Centennial in Nashville, Tennessee, is a pioneer in treating patients with sickle cell disease with CRISPR.

In the CRISPR clinical trial, the treatment is called CTX001. It uses CRISPR cas9 technology to edit a gene called BCL11A and it turns that gene off so that adult hemoglobin is made.

Gene editing is the start of a dramatic change in how diseases such as sickle cell disease are treated in which the DNA within germ line cells can be re-engineered.

The team at RCM Health Consultancy led by Raymond Rupert, patient advocate, is keenly interested in advocating for patients whose diseases can be treated with CRISPR when CRISPR is more widely available.

Raymond Rupert, patient advocate and healthcare consultant.