What exactly is gene therapy and gene editing, how do they differ and crucially how do they treat disease?

Gene therapy and gene editing are treatments that use our own cells to correct mistakes in our DNA letters that cause disease. The exact approach used depends on the condition and the type and number of mistakes in question. This takes us from first generation gene therapy for rare genetic disorders that only need one faulty gene to be corrected to the use of advanced gene editing techniques that modify multiple genes in complex cancers.  Since the discovery in 2013 of the Crispr/Cas9 technology, which cuts and pastes our DNA much like a word processor, the field has been advancing at breakneck speeds. The ease and precision of this new technology means that excited scientists are working late into the night: inserting, deleting, inactivating and generally moving our genes around like never before. Such developments can be applied to numerous fields, thus creating a new industry that can not only better treat humanity but better feed and fuel our world as well.




Scientists first started thinking about rewriting our genes half a century ago but it wasn’t until 1990 that the first gene therapy was officially tested on a patient. It initiated the first wave of gene therapy treatments that has enabled scientists to correct faulty cells so completely that today such patients are able to live normal lives.

To do this, scientists withdraw the patient’s faulty cells and in the lab they take the DNA letters of a normal gene and put them into a virus. As naked DNA cannot be directly injected into humans, viruses are used because they naturally take their DNA into human cells when infecting them. Once some nifty genetic engineering has removed the virus’s dangerous properties, they become the perfect delivery vehicle for the corrected genes.

Therefore, the virus containing the corrected genes infects the patient’s faulty cells. In doing so, it literally dumps the correct genetic cargo to where the patient’s DNA letters are kept in the cell’s control centre, known as its nucleus. Scientists specifically target stem cells: they are the mother cells of the body and can develop into many different kinds of cells and self-renew. This means they act like factories of cells, constantly churning out normal cells for the entire life of the patient.



Once this infection process, known as transduction, has been done with billions of cells, the doctor reinfused them back into the patient. These corrected cells flood the patient’s blood system and correct the disease. This first generation of gene therapy can treat numerous inherited diseases where there is just one faulty gene. Several of these kinds of treatment are already in human trials, others are reaching the marketplace and one has been approved for government funding in European countries.

Gene therapy process diagram.jpg

Such gene therapies can vary in their technique. One such treatment that has helped restore sight to blind patients, doesn’t take the diseased cells out of the patient (known as autologous ex vivo gene therapy) but injects normal genes (also using the virus delivery vehicle) directly under the retina inside the eye. Although it is not yet considered to be a curative treatment, the improvements seen by thirty-one patients in a study are such that it been FDA approved. With those previously blind suddenly able to play sports and read books, customers were ready and waiting when the treatment, called Luxturna, became available this month. Scientists in London and Oxford have even managed to get virus corrected cells into a liquid aerosol so that it can be breathed into the lungs to treat Cystic Fibrosis. If all goes to plan, patient trials will get underway within the next two years. Other methods of gene therapy are being tested all the time and cover a huge range of conditions beyond genetic diseases including: HIV, arthritis and even spinal cord injuries, to name a few. But one advancement that is gaining huge ground is gene editing.


Recently scientists have discovered pioneering gene editing techniques, whereby instead of merely dumping the corrected DNA letters roughly in the correct place in the cell’s nucleus (on a strip of DNA know as a chromosome), and hoping that they are taken up, they are using molecular scissors which can cut out the faulty DNA letters and paste in the corrected ones in exactly the right spot. This is an important breakthrough for many diseases where there are several DNA faults as it means they can be corrected more precisely. Furthermore, it also lends itself to more complicated gene modifications for more complex diseases, like cancer.

Scientists in London dramatically saved the lives of patients with final stage leukaemia using molecular scissors called TALENS (transcription activator-like effector nucleases). As this blood cancer had totally ravaged the patients’ own immune cells, it was hugely beneficial that donor’s immune cells were used for the treatment. First, the scientists reprogrammed the cells to recognise and destroy the leukaemia. With a second edit, they removed any genes that could cause the donor cells to be rejected by the patient: all with the help of a virus delivery vehicle. Four treated patients who were at death’s door are in remission today making this a landmark moment for both cancer and gene editing.

The unprecedented precision another gene editing technique called Crispr/Cas9 (clustered regulatory interspaced short palindromic repeats), means that for the first time scientists are able modified human reproductive cells (egg, sperm and embryos). We now have a way to change the DNA of our off-spring, who controversially, have no say in whether they want these changes. This is all very well when obliterating a fatal heredity disease, but other conditions like Dwarfism and Down Syndrome are less clear cut. Sufferers, like the famous actress Kiruna Stamell, oppose it; stating that they would not be themselves if they had been altered from the offset. 

This also gives rise to genetic engineering for enhancement purposes as well; giving people extra muscly genes to make them a great athlete or for choosing other traits like the hair and eye colour for one’s children, hence the notion of designer babies. There are concerns that this could lead to a more unequal society where parents who can afford to pay for gene editing do so. Bioterrorism is another problem that could arise - the possibility that gene editing is used to create new diseases, the likes of which we have no cures.

Proceed with caution is the mantra coming from the research community. Those in the know recognise that this powerful new technology could be a double-edged sword. As scientists sharpen these genetic tools to better serve humanity, they are calling for a robust public debate. For this science to reach its full potential, it needs to be accepted by the public and for this to happen it first needs to be understood.

Gene therapy has started to treat patients of previously incurable diseases, but its imperfections mean so far it doesn’t work every time. Gene editing is striving to over come those failures but it’s our job to protect the human race and ensure it’s fail-safe.

Celebrating Rare Disease Day

Rare Disease patients are at the forefront of a genetic revolution in medicine.

As well as raising awareness, Rare Disease Day is a time to celebrate the achievements of those affected by such conditions. And now we have the heroism of rare disease patients and their doctors to thank for a treatment that rewrites faulty DNA.

As many of the rarest diseases in the world are caused by a single faulty gene, the early genetic pioneers figured this would be the easiest place to start their research. The fatal immune disorders known as SCID proved to be perfect candidates for gene therapy. In the past SCID was famous for confining David Vetter to a sterile bubble, in the future it will be heralded for launching a genetic revolution in medicine. With trials for numerous rare diseases now underway around the world and more still in development, such patients are trail-blazing a completely new medicine for mankind. 

As the theme for this year's Rare Disease Day is research, I've made a video that gives an insight into the world’s first government funded gene therapy and what it means for those affected.

So I guess this edition is more of a Vlog than a Blog,  please click on the photo to go to the VIDEO

From Jeans to Genes


No matter what the top designers make of them, harsh dark denims never really catch on. Stonewashed jeans feel better, look better and are simply a cool wardrobe staple. But the secret behind them is more than just cool, it is revolutionary. Like the revolutions gone-by, the march of scientific progress is much like the march into battle.

Imagine for a moment that you had found a way to address the world’s needs to produce cheap and highly effective products that help to feed, fuel, and heal humankind? Would you be branded an innovator and embraced by the industries of the world, or would you be treated as a threat and attacked from all directions? If your name is Mark Emalfarb, you have experienced both.

Mark Emalfarb is the founder and CEO of the publicly owned, Dyadic International Inc.  Emalfarb turned a successful stone wash jeans business into a global biotech company, which has the ability to turn genes into revolutionary pharmaceutical products.

In the 1980s, the faded stone-wash effect used by the likes of Wrangler and Levi was pioneered by Mark Emalfarb using pumice stones. Instead of multiple washes with pumice, it soon became apparent that the job could be done in a more environmentally friendly way using enzymes.

In the early-1990’s, Dyadic scientists discovered a novel fungus, Myceliophthora thermophila, deep in the undergrowth of forests in the Russian Far East. This fungus produces cellulase enzymes, which are ideal for developing technologies for a wide range of industrial applications. Like the fungus Penicillium chrysogeum that was used to produce penicillin, these enzymes required enhancing with mutation causing X-rays, to create a mutant strain that produced a high yield at low cost, which the company named C1. 

Furthermore, serendipitous mutations of C1 led Emalfarb to realize that the C1 technology was not just another interesting discovery, but a potentially disruptive platform technology that could take his business far beyond the realms of stonewashing genes. Its unique properties and highly productive and robust nature had Elmalfarb set for a four-decade journey through several industries and onto a new medical frontier.

For example, these enzymes can convert non-consumable agricultural fibre, like corn stover, into glucose that are fermented into fuels, like ethanol, thus also preserving precious starch foods like corn and wheat and reducing greenhouse gas emissions, as well as being made into plastics and polymers.

To date, Dyadic has achieved commercial success manufacturing the C1 technology for a diverse range of industrial applications, such as, biofuels, animal feed, materials, food and detergents. Dyadic successfully commercialized its C1 technology by developing its own products and entering into license deals with the big global players, Abengoa, BASF, and Codexis/Shell.  Emalfarb is also credited with closing the sale of Dyadic’s industrial biotech business to DuPont, one of the world’s largest enzymes producer, for $75 million in 2015. Today, the C1 technology continues to produce enzymes that help better feed and fuel the world.

Mark's daughter on top of his stonewashed jeans

Mark's daughter on top of his stonewashed jeans

With its successful commercialization track record, Dyadic is now moving into the global pharmaceutical market with the goal of harnessing its C1 technology to pioneer sought-after new treatments. Historically, the pharmaceutical industry flourished using synthetic chemistry to produce active pharmaceutical ingredients and drugs. However, the sequencing of the human genome has led to an explosion of genomic data and a multibillion dollar biopharmaceutical sub-sector which is developing and manufacturing products made from living sources, like cells, proteins, antibodies. Called biologics, they include a wide range of treatments, vaccines and drugs. “Biologics are the fastest growing segment of the biopharmaceutical industry and they command an impressive 21% of the pharmaceutical industry,” according to Emalfarb and sited in Transparency Market Research’s recent report on the Biologics market.

The industry standard for making biologics are age-old CHO cells, which come from the ovaries of Chinese hamsters. However, they were not originally produced for biologics and ended up being modified for the job in the absence of a better technology.  CHO cells are costlier and less robust, so this provides Dyadic a lucrative space to move into and the industry an opportunity to innovate (i.e. Samsung, Biogen and the Bill and Melinda Gates foundation are also developing such alternative cells).

“We believe our technology will be able to make biologics with five to ten times greater yield, in half the time and with a lot less cost than the CHO cells,” Emalfarb stresses. “This seriously changes the game in the way biologics can be produced.”

Dyadic are now applying their C1 technology as a platform to help bring biologic vaccines and drugs with improved drug properties to market faster, in greater volumes and at lower costs; thus, making them more accessible to patients and healthcare providers globally.

Not only does this provides Dyadic with the opportunity to tap into lucrative markets but also to make a real difference to healthcare around the world. For example, in developing and producing antibodies, Dyadic will be providing the ever-growing aging population with much needed anti-inflammatory drugs to treat rheumatoid arthritis. And for treating cancer these antibodies have the potential to attack tumour cells in multiple places (targeting different antigens) and in a more robust way than the standard CHO cells.

The threat of unknown and known diseases, provides huge scope for new preventative and therapeutic biologic vaccines. In the Third-world, which bears the brunt of infectious diseases like HIV, new biologics could possibly, just possibly, come up with the vaccine that has eluded the field for decades.  

The rate of change in the biotechnology industry is accelerating at breakneck speeds. In 2003, it was estimated to cost $50 million to sequence a human genome, today that has dropped to just a $1000. Scientists, the bio-tech industry and governments are mapping the genomes of just about every living organism in search of gene sequences that can be turned into biopharmaceuticals, which improve and prolong human and animal health. In pursuit of this, the field is developing ever faster, cheaper and more accurate molecular tools, like CRISPR/Cas9 gene editing.

Emalfarb sees a perfect fit here; by combining Dyadic’s prolific C1 industrial cell lines with these advanced molecular tools, there is an opportunity to introduce game-changing technology that has the potential to improve access to biopharmaceuticals while lowering their cost for patients and the global healthcare system.

With the world’s aging population growing, the demand for these expensive biologic vaccines and drugs has skyrocketed. “Together, these factors will run up a tab that cannot be paid by any one country or healthcare financing system,” says Dr Steve Arlington, global leader of Price-WaterhouseCoopers’ Pharmaceutical Industry Group. “Moreover, in its present form, the biotech and pharmaceutical industries are unable to produce innovative treatments, like biologic vaccines, quickly and economically enough to meet disease threats,” he adds.

Therefore, the biopharmaceutical industry and government regulatory agencies must embrace innovation rather than feel threatened by it, in order to make the health care system economically viable to patients and providers according to Emalfarb.

We are marching towards a Genomic revolution in medicine that is giving us the cutting-edge ammunition to fight previously untreatable conditions. Having already helped fuel the industrial world with an array of products, the work of this this novel Russian fungus is not yet done: healing mankind is its next frontier.

From Rare Diseases to Common Cures: the gene therapy way

Today is the ten year anniversary of Rare Disease Day and in that time courageous trial patients and their heroic doctors have been trailblazing a completely new treatment for mankind: gene therapy.

Although the first successful gene therapy treatment took place in 1990, it has only been in the last few years that we’ve begun to see the fruits of this research. With the  technology being used to treat ever more common conditions, these fruits are now stacking up to be plentiful. Without a shadow of a doubt, we have those affected by rare diseases to thank for this progress.

 PATIENT WITH the rare immune disorder, aDA SCID, during her gene therapy treatment

 PATIENT WITH the rare immune disorder, aDA SCID, during her gene therapy treatment

As many of the rarest diseases in the world are caused by a single faulty gene, the early pioneers of gene therapy decided that they would be a good place to start their research. Decades before our genetic make-up was published in The Human Genome Project, geneticists had sequenced the mutations (mistakes in the letters of patients’ DNA) responsible for a number of inherited rare diseases. A fatal condition called Adenosine -deaminase-deficient severe combined immunodeficiency (ADA-SCID), which effectively means a patient has no immune system, was one of the first diseases where the genetic mutation was clearly identified.  The next step involved spotting where the mistakes were, and figuring out a way to corrected them. Evidently dealing with just one gene seemed like the most manageable route to success. But success proved to be a long time coming and the route took some unexpected detours.

Scientists actually had little problem coming up with a way to correct the faulty gene. They compared the mutated and healthy version, saw where the mistakes were and lined up the correct sequence of human DNA letters. However, the monumental challenge that would occupy the better part of the next three decades, proved to be getting these healthy new genes into patients' cells. In short, they needed some kind of delivery vehicle to shuttle them in. Scientists pinned their hopes on using viruses as they have naturally evolved to infect human cells with their viral DNA. But the various viral delivery vehicles they first tried caused fatal responses: and it was not until last year that an ADA SCID gene therapy was finally licensed.

For three decades scientists and ADA SCID patients battled the high seas of science to get this product to market. Today similar gene therapies for a range of rare diseases and even some cancers are progressing through patient trials around the world.  

A disease is defined as rare if it affects less than 50, 000 people in Europe or less than 200 000 people in American. However, collectively, rare diseases are not rare.  They affect around 6% of the global population and there are 6 to 8000 different types of rare diseases.

Dr Rafael Yáñez-Muñoz, the Editor of Gene Therapy, has an example that really brings this home; “Six per cent of people being affected means that in your street, on the train that you use for your daily commute, in your child’s school and at the gym where you train, there will be several people affected. At the universities or research organisations where we teach and research, hundreds of people will be affected. If you look around yourself, you may see them, giving an example of endurance and determination in their struggle with daily activities that we take for granted.” 

On the face of it, research for rare diseases receives a disproportionately heavy investment (e.g. 20% share of the health budget in the UK). However, this research is very much planting the seeds for future breakthroughs in genetic medicine. Gene therapy is already reaping rewards: Parkinson's, Haemophilia, Cystic Fibrosis, Sickle Cell Anaemia  are all examples of relatively common genetic diseases that are already in patient trials, so the fruits of this research could be very far-reaching.

The tide is finally turning for gene therapy, washing over the trials and tribulations of its past. As we look to future advancing technologies like Crispr, which has the capability of editing out the multiple mutations behind more common diseases like cancer (if interested see my online article), once again, it will be people affected with rare diseases who will be trailblazing these treatments, which we all stand to benefit from.

The Rare Genomics Institute an amazing organisation that brings affected patients, families and cutting-edge scientists together: http://www.raregenomics.org/

The Renaissance of Gene Therapy

An international cast of Hollywood’s best actors and medicine’s greatest minds gather in Florence this autumn in a surprising fusion of Renaissance science and art.

The city that staged the greatest artistic Renaissance in history sets the scene for an extravagant display of the modern movie industry. Inferno has its US cinematic release today but earlier this month the red carpet was rolled out in Florence for the movie’s world premiere. Dan Brown’s bestselling book, Inferno, inspired by Dante’s famous poem “Divine Comedy,” has been given the full Hollywood treatment.

Tom Hanks plays the protagonist Robert Langdon, a professor of art and symbology, who takes us on a frenetic chase through Florence’s iconic landmarks. Prof Langdon must round-up clues to save humanity from the work of rogue geneticist Bertrand Zobrist. Obsessed with overpopulation, the geneticist has engineered a virus to cull humanity in a death scene reminiscent of Dante’s poem.

Portrait of Dante in Ufizzi Gallery, Florence

Portrait of Dante in Ufizzi Gallery, Florence

Just last week Florence staged a much-anticipated event to celebrate a Renaissance in genetic engineering. Over 1,300 scientists, businessmen and journalists (including me) flew in for the first ever joint international and European congress of cell and gene therapy.

“The Renaissance confronted the old world; it was a time when of great thinkers fused art and science and challenged what was humanly possible, and as scientists that is what we are trying to do today,” Prof Naldini, the Director of the San Raffael Gene Therapy Institute (TIGET) and congress chair, proclaimed in the opening address

Ironically, a virus technology like Zobrist’s, but one used to heal, not harm, is at the forefront of this Renaissance.

For half a century the idea of re-writing the mistakes in our DNA has been more of a blockbuster for Sci-Fi movies than for biotech companies developing cures. The lack of progress has had nothing to do with correcting the faulty genes that caused disease, but rather finding a safe means of delivering these new genes into patients’ cells. As viruses have naturally evolved to do precisely that, highjack our cells and infiltrate them with their harmful genes, they seemed like a good place to start. Experiments in the lab progressed rapidly with scientists painstakingly gutting viruses of their dangerous properties and turning them into DNA delivery vehicles, which they called viral vectors.  Unfortunately problems came to light at the worst possible time – when the technology was being tested in patients.

At the turn of the Millennium a common cold virus vector proved to be fatal for an American teenager called Jesse Gelsinger. Instead of the new cells effortlessly integrating into Jesse’s existing cells, his immune system launched a massive attack on these foreign vectors (which they mistook to be an incoming invasion).  This death shook the entire industry; trials were halted, funding was withdrawn and scientists went back to the drawing board. 

The next viral vector to be popular among scientists was in use for two years before a single problem arose. This time scientists discovered that the vector delivery vehicle was parking itself beside genes that triggered leukaemia. Furthermore, the affected patients were on different trials, for different diseases and in different parts of the world, but the root cause of the problem was the same. The viral vectors went back under the microscope. Slowly but surely the lessons of the past are coming good.  Third generation viral vectors are proving to be safe and effective at treating a wide range of conditions including blindness, cancer and genetic diseases.  



The Hollywood of the genetics’ world met at last week’s congress titled, Changing the Face of Modern Medicine, to recognise these achievements, advance new technologies and discuss a safe and ethical path of progression.

These top scientists are genuinely concerned that in the wrong hands genetic engineering could be used for bioterrorism as depicted in Inferno, but by far their biggest concern is that consumer demands creates an insatiable market for enhanced human traits. 

From Crufts’ designer dogs to Crispr’s genetic engineering.

Since my last post, which gave a mention to the famous British dog show Crufts, it became the centre of media attention. Therefore, I thought a blog post was in order to reflection on the story which caused such outrage.

As the German Shepherd Dog Cruaghaire Catoria was heralded the winner of her breed, social media went into overdrive at the sight of her, “who did not look like a healthy free-moving dog,” according to the Crufts’ TV Commentator Jessica Holm. This prompted the Kennel Club to axe much of the “soon to air” footage, which caused another surge of complaints. The abnormal plunging curved back we saw on Cruaghaire Catoria is the sought after “look” that impresses show judges. However, it is one that has had huge health repercussions for the German Shepherd Dog in recent years. Furthermore, it is just one example of how breeders have dramatically manipulated the evolution of dogs.


Hip dysplasia, week legs, arthritis and flatfeet are far more common in show dogs than their work counterparts.  The human selection of desirable traits imposed by competition judges and fostered by breeders is endangering numerous varieties for little more than pomp and ceremony.  

“What real people see as a deformity is seen as a sign of beauty by the breeders,” Beverley Cuddy, the Editor of Dogs Today Magazine told me. “In the last fifteen to twenty years we’ve seen the shape and movement of the German Shepherd Dog change dramatically. This one example is just the tip of the iceberg, honestly other dogs fare far worse,” she emphasised.

Take the family favourite the British Bulldog, like a range of dogs a flattened face is a “must have” trait, but one that has brutally deformed its head. His shortened nose and narrowed nostrils cause problems breathing, exercising, eating, sensitivity to heat and general discomfort. His jaw structure affects the development of his teeth and the distortion of his head and nose also has consequences on the position of his eyes. This can lead to various painful eye conditions. The super-curly tail that is fashionable is blamed for injuring the spinal cord and bone; and as if that’s not enough it can also make him incontinent and his hind legs unstable.

According to a qualified veterinarian surgeon these abnormalities are quite typical. All too frequently Bulldogs are being wheeled into their operating theatres for corrective surgery. The most high profile example is Lewis Hamilton’s Bulldog Roscoe. At the end of last year Roscoe underwent major throat surgery, removing tonsils and succules pouches of the inner ear, just to help him breath normally.

An increasing number of breeds are ending up on the operating table. These poor dogs are suffering from the unnatural traits  they have inherited  for no other reason than to fit the ideals of the show judge. With the sudden advance of genetic engineering technologies that could give people control over our genetic destiny, is this a timely warning signal? Could we be next

The arrival of the headline grabbing Crispr (short for Clustered Regularly Interspaced Short Palindromic Repeats) technology means that specific DNA letters, which form our genes, can be edited with unprecedented ease, speed and affordability. However, this powerful tool cuts both ways. It could be used to banish life-threatening diseases,  including cancers, but it could also be used to enhance humans and create “designer babies.” And like show dogs who have the ideal thrust upon them, any modifications to reproductive cells will be automatically passed on to future generations.  

The recent Crufts furore makes it very apparent that meddling with evolution in pursuit of the ideal can have far-reaching social, ethical and health consequences. As geneticists accumulate the tools to edit our genetic faults, just how far reaching they become needs to be robustly discussed outside the scientific community before any ideals are thrust upon us. 


Perfecting Imperfections

Yesterday I watched the final day of Crufts, a dog extravaganza and highlight in the British social calendar that dates back 125 years. The competition attracts dog lovers from around the world with over 22,000 taking part. It is unashamedly seeking dog perfection: the characteristics and behaviours the judges believe epitomise the ideal in each breed.

Evidently a lot of time and effort goes into keeping pedigrees untainted from diversity, and for their troubles these top dog breeders gain little more than glory, pomp and ceremony. The dog that deviates least from perfection, in the eyes of the judges, is the celebrated winner of the coveted Best in Show trophy and title. This year it was claimed by, Devon, a fluffy white West Highland Terrier and the runner up prize went to a very sleek Whippet called Hazel.


Whippet CREDIT: TRISHA SHEARS                                                                                        

Whippet CREDIT: TRISHA SHEARS                                                                                        

Although faltering in the breeding ranks, certain Whippets may prove man’s saviour as well as man’s best friend. Some dogs, known as Bully Whippets, are born with a natural genetic mutation that makes them extra muscular and strong. A fault in a gene called myostatin means they don’t produce a muscle inhibiting protein which would normally put the brakes on muscle growth. For this reason scientists in America think this genetic anomaly holds the key to treating patients with the muscle wasting disease Duchenne muscular dystrophy. The inherited disorder usually affects boys whose weakening muscles gradually paralyze them before they die prematurely at around 25 years of age.

Taking the cue from the Bully Whippets, scientists in America are using new gene editing technologies to knock out the myostatin gene in an attempt to treat Duchenne muscular dystrophy. As the whole field of genetic engineering is rapidly gaining ground such a treatment is a most promising.

In dog competing circles like Crufts, a Whippet with such a “fault” (even if not a visible one) would not make the mark. The deviation from the ideal would be picked up in the DNA tests breeders now use to validate dogs’ parentage. DNA is the sequence of letters that forms our genes. This genetic information governs our traits and how our bodies functions. Three billon letters of DNA make up the 25,000 genes inherited from our parents. We receive a copy of each gene from both our mother and father. Therefore, if a genetic mutation is passed on from just one parent, we are usually unaffected as the other parent’s gene steps in.  But there can be profound ramifications if we inherit two mutated genes.

With genetic engineering advancing so swiftly, scientists around the world are debating the consequences of editing the mistakes out of our genes. Therefore, I thought it worth mentioning a few more of these mistakes that are actually beneficial to mankind.

A potential cure for HIV

A select ten percent of the world’s population are born with a gene mutation which makes them resistant the lethal AIDS’s virus. This genetic quirk means that their immune cells lack the receptor HIV needs to enter them. Much like a door handle, without it HIV just can’t get inside and infect them. Scientists have already developed new antiretroviral drugs to try and block this receptor. Furthermore, human trials are underway which use gene editing technologies to cut out this entry gene.

PharmaV Ed receiving his gene edited cells.JPG

The concept has already been used cure a man of HIV. As the patient also had leukaemia his savvy doctor chose a bone-marrow donor who had this mutation, thus giving him a life-time’s supply of HIV-resistant cells. Therefore, hopes are high that this gene therapy, which mimics this mutation but doesn’t carry the health risk of a transplant, will cure this deadly disease. Inevitably this research has paved the way for other diseases, like Duchenne muscular dystrophy, that could be also treated by editing out a single gene.

Low cholesterol on a high fat diet.

Some lucky people are born with a genetic mutation which means they can eat as much cheese, red meat, and fry-ups as they like. In fact any foods that would have the average person’s cholesterol shooting up make little difference to them. These people lack a gene known as PCSK9: a discovery that has triggered a flurry of research to block the gene and develop a new anti-cholesterol pill. Patients on the first trial achieved a reduction of up to 75% in their cholesterol levels so side effects from statins could become a thing of the past.

Malaria resistance

People blighted with the life-threatening genetic disorder sickle cell disease (SCD) also have unusually high resistance to Malaria. SCD is caused by mutations in the beta-globin gene that distorts red blood cells into a sickle shape. This causes these crucial oxygen-carrying cells to die prematurely leading to anaemia. Because of their awkward shape they get stuck in blood vessels causing extreme pain and life-threatening organ damage. The Malaria parasites also find the awkward shape a sticking point. Usually they infiltrate and destroy red blood cells with ease, but they find the sickle cell hard to latch on to which effectively shuts them out.

People who have inherited this genetic fault from just one of their parents benefit from Malaria protection and are also spared from sickle cell disease. Therefore, it is not surprising that this debilitating disease is prevalent in African communities that are connected to lands where Malaria is endemic.

As we gain the scientific know-how to edit out genetic faults it is worth remembering all of the mistakes that have benefited humanity and enriched our society. Crufts is a fantastic four-day spectacle of dog perfection and long may it last. But long may such pursuit of perfection stay within the canine kingdom.