A UNSW Sydney-led team of scientists has made an advance that could eventually lead to a cure for sickle cell anaemia and other blood disorders.
By introducing a beneficial natural mutation into blood cells using the gene-editing technique CRISPR, a UNSW Sydney-led team of scientists has been able to switch on production of foetal haemoglobin – an advance that could eventually lead to a cure for sickle cell anaemia and other blood disorders.
People with thalassaemia or sickle cell anaemia have damaged adult haemoglobin – the vital molecule that picks up oxygen in the lungs and transports it around the body – and they require life-long treatment with blood transfusions and medication.
However, people with these diseases who also carry the beneficial natural mutation – known as British-198 – have reduced symptoms, because the mutation switches on the foetal haemoglobin gene that is normally turned off after birth.
The extra foetal haemoglobin in their blood, which has a very strong affinity for oxygen, does the work of the defective adult haemoglobin.
“With CRISPR gene-editing we can now precisely cut and alter single genes within our vast genome,” says study senior author and UNSW molecular biologist Professor Merlin Crossley.
“Our laboratory has shown that introducing the beneficial mutation British-198 into blood cells using this technology substantially boosts their production of foetal haemoglobin.
“Because this mutation already exists in nature and is benign, this ‘organic gene therapy’ approach should be effective and safe to use to treat, and possibly cure serious blood disorders. However, more research is still needed before it can be tested in people,” he says.
The study by scientists from UNSW, the Japanese Red Cross Society and the RIKEN BioResource Centre in Japan, is published in the journal Blood.
The beneficial British-198 mutation, which was first identified in a large British family in 1974, involves a change in just a single letter of the genetic code.
Carriers of this mutation have foetal haemoglobins levels as high as 20% of total haemoglobin, while most people’s foetal haemoglobin levels fall to about 1% of total haemoglobin after birth.
The researchers also discovered how this British-198 mutation works. They found it creates a new binding site for a protein called KLF1 that turns blood genes on.
Mutations affecting adult haemoglobin production are among the most common of all genetic variations, with about 5% of the world’s population carrying a defective gene.
“To turn the new gene editing approach into a therapy for blood disorders, the British-198 mutation would have to be introduced into blood-forming stem cells from the patient,” says Professor Crossley.
“A large number of stem cells would have to be edited in order to repopulate the patients’ blood with genetically enhanced cells.”
The Latest on: Genome therapy
- Gene therapy restores hearing in mice with congenital genetic deafness on February 19, 2019 at 10:20 am
In collaboration with the universities of Miami, Columbia and San Francisco, scientists from the Institut Pasteur, Inserm, CNRS, Collège de France, Sorbonne University and the University of Clermont A... […]
- CRISPR/Cas9 therapy can suppress aging, enhance health and extend life span in mice on February 19, 2019 at 8:52 am
Researchers have developed a new gene therapy to help decelerate the aging process. The findings highlight a novel CRISPR/Cas9 genome-editing therapy that can suppress the accelerated aging observed i... […]
- Novel gene therapy approach creates new route to tackle rare, inherited diseases on February 19, 2019 at 7:34 am
"Our unique gene therapy approach takes advantage of the ... gos' and hopefully one day may be used to correct defective genetic sequences in people." The process of turning genetic code into ... […]
- Sales of Philadelphia-born gene therapy product hit $27M during first year on February 19, 2019 at 7:07 am
Spark said it has shipped 75 vials of Luxturna, a one-time gene therapy used to treat adult and pediatric patients with vision loss caused by inherited retinal dystrophy from a genetic mutation. The i... […]
- World's first gene therapy operation for common cause of sight loss on February 19, 2019 at 6:35 am
The virus contains a modified DNA sequence, which infects cells, called the retinal pigment epithelium (RPE), and corrects a genetic defect that causes AMD. Ideally if successful, gene therapy ... […]
- Therapeutic implications of germline genetic findings in cancer on February 19, 2019 at 3:11 am
Cancer is a genetic disease. To date, translational cancer genomics has focused largely on somatic alterations, driven by the desire to identify targets for personalized therapy. However, therapeutica... […]
- Healthcare Researchers Crunch Genetic Data And Build Businesses on Oracle Cloud on February 19, 2019 at 2:00 am
But the road from designing a genetic test or therapy to using it to help patients is long and steep, with one of the first barriers being the mountain of data contained in the genomes they seek to st... […]
- Experimental gene therapy treatment used to try to stop most common cause of blindness in aging people on February 18, 2019 at 11:38 pm
Robert MacLaren, at the University of Oxford, helped administer the treatment. He also administered the first gene therapy for a rare genetic cause of blindness, choroideremia, last year. He told the ... […]
- Single CRISPR treatment can safely and stably correct genetic disease on February 18, 2019 at 10:54 am
The CRISPR genome editing remained stable and, in some cases, even strengthened over the course of a year. One could imagine delivering the therapy to infants as a method of circumventing or modulatin... […]
- Gene therapy firm to add 200 jobs, invest $60M in Durham county facility on February 18, 2019 at 9:29 am
AveXis’ initial product candidate, AVXS-101, provisionally known as ZOLGENSMA (onasemnogene abeparvovec-xioi), is an investigational gene replacement therapy to treat spinal muscular atrophy (SMA) Typ... […]
via Google News and Bing News