Today, I attended the Genetic Alliance workshop to talk about genome editing and what this means for cancer and rare diseases such as mine. There were 250 applications nation wide and I was shortlisted as part of 17 to be an ambassador for this project.
This isn't linked to my day job but my voluntary work with the sickle cell community in the U.K.
My friend, Sajid was also there to represent Thalassemia, another similar genetic blood disorder like sickle cell. I adore Sajid. He is so damn witty.
So, basically you have a complete set of genes in almost every healthy cell in your body. One set of all these genes, (plus the DNA between the genes), is called a genome. 23 of our chromosomes make up these genomes.
Genomics is the study of genomes.
If we get the Genomics medical treatment right, the U.K.could be the first in the world to revolutionize treatments for genetic diseases. Now there is a thin line between diseases you are inherently born with and those you acquire later in life and a good example of this is HIV. You could inherit it from birth or acquire it. Cancer could be in this category too.
One of the challenges is finding actual conditions that are specifically caused by flawed genetic coding to be able to apply genomes sequencing treatment to an individual. There is of course, all the ethical ramifications and controversies (media being one) that come with global trials such as this.
Former Facebook President, Sean Parker is funding this in the States. He compares this trial to the "Manhattan Project".
The Chinese are pioneering phases of gene editing.
In the U.K., we are.
It seems to be a global competitive process in modern medicine. But why shouldn't it?
There are over 6,000 rare diseases in the world and so many children and adults are still undiagnosed.
It's one thing to have a genetic condition and be diagnosed and it's another thing all together not to know what you suffer from and therefore have no access to treatment.
I was lucky to be diagnosed a couple of months after my birth when my mum couldn't understand after she had fed me and changed my nappies and I would still be quite distressed and cry uncontrollably. Until one day, the midwife asked her to bring me in for tests (it was Guy's hospital then) and voila, "ma'am your baby has sickle cell"! Early 80s? Go figure!
4 million diagnosed people with sickle cell globally.
So the next step (after the the first breakthrough of British scientists creating and completing the genetic code of every human being) is to revolutionize genetic treatments further.
These geniuses have started the 'reading' of the human genome which forms our DNA, letter by letter and this process is called sequencing.
Fetal gene therapy (and the controversial eugenics) are other trials that are ongoing but all have one similar theme- correction!
I love people in the Sciences.
Why am I interested?
At least 80 percent of rare diseases are genomic with half of new cases found in children. Knowledge of the whole genome sequence may identify the cause of some rare diseases and help point the way to new treatments for these devastating conditions – sickle cell is quite straightforward.
Now some people may argue that sickle cell was borne from the mutation of hemoglobin genes in geographical areas quite tropical and high in malaria, which somehow means carriers of the traits are immune to malaria and there are other similar conditions too quite similar in analogy. However, I believe that there has to be some advancements to life as we evolve which corrects or re-writes these spelling genetic codes with less interference on our DNA.
As most rare diseases are inherited, the genomes of the affected individual (usually a child) plus two of their closest blood relatives will be included to pinpoint the cause of the condition.
There is a real opportunity here for people like me living with sickle cell and generations to come to benefit from what could be a new discovery of our DNA coding and how it could potentially be a life saving reality for people with genetic disorders and cancers.
I have followed this subject since the U.K. Government announced its funding for the programme under the NHS. I even applied for a job in NHS England to be a programme manager as part of their team.
I am now pleased to be involved with this revolutionary process and what could become a phenomenal reality for future generations. Who knows?
Watch this space.
We will be opportune to visit the genomics lab in Kings Cross shortly. No one gets easy access there btw.
My highlight today was being able to meet a number of people with other rare genetic conditions across England and it was such an eclectic crowd this afternoon and a learning curve for me too.
Each of us looked so great that I couldn't physically see the condition that any of them suffered from and that's one of the beauties of life. You see people everyday and you don't know what they may be going through or internalizing.
Written Jan 28th 2017