Treating sickle cell disease with gene therapy – Jamaica Observer

After nearly two years of debate about its possible benefits and risks, the gene editing technique is now here to stay.

An article in the December 27, 2015 edition of the Sunday Observer told of the first recorded use of the inexpensive CASPR-Cas9 gene editing technology to cut and splice out bad genes and replace them with healthy genes.

INHERITED DISEASE

A gene is a unit of heredity that is passed down from parent to child, and which carries characteristics that become apparent in the child. Each cell of the human body has around 25,000 genes, and each of those genes carry information that determines the individual traits or features of the person. So there is a gene for eye colour, hair colour, skin colour, and so on.

However, when some genes are defective or they undergo changes or mutation, illnesses can occur. Illnesses may also occur when there are missing genes which should have played a particular role. Some of the problems with genes may also be inherited from a parent.

One such illness well known to us in Jamaica is sickle cell disease. This is a severe hereditary disease in which the haemoglobin protein that is present in red blood cells to carry oxygen around the body is mutated and abnormal. Red blood cells are customarily round and circular in shape to flow smoothly through our blood vessels, but when oxygen levels are low in the bloodstream, the abnormal haemoglobin that is present in people with sickle cell disease cause the red blood cells to bend into a sickle crescent shape, making it difficult for them to flow through the tiny blood vessels of the body, and consequently may cause severe joint pains and other complications.

GENE THERAPY

The concept behind gene therapy is to use the technology of genetic engineering to replace abnormal genes with healthy ones.

Whilst this concept has been around for 30 years, the process became much more accessible with the development of the inexpensive CASPR-Cas9 gene editing technology around two years ago.

In April 2015, scientists in China were able to use the technology to splice out bad genes that were present in human embryonic stem cells and replace them with healthy ones. The stem cells, however, were never implanted into women at the time for their development into humans.

In December 2015, a speaker at the annual symposium of the American Society of Hematology described possible work in which an infant with sickle cell disease would have his or her blood stem cells edited to repair the haemoglobin gene, thereby preventing the formation of blood cells that would have caused sickling. The specific work would involve harvesting the blood stem cells of the diseased infant, editing them outside the body with a normal DNA sequence, then returning them to the infant in a bone marrow transplant.

ETHICAL CONCERNS

As this technique involved editing the haemoglobin gene within the somatic stem cell rather than in the embryonic stem cell, this choice was deemed by many to be the more ethically acceptable approach. Many people are very concerned that the gene editing technique may be used to make long-lasting hereditable changes at the embryo stage or on germ cells (human sperm or eggs), and some find this unacceptable.

This notwithstanding, in February 2016, the United Kingdom Fertilisation and Embryology Authority, who are the UK regulators on fertility matters, granted permission for scientists in London to edit the genomes (the complete set of genetic instructions, which includes all genes) of human embryos for research purposes. The developmental biologists were allowed to use the gene editing technique in healthy embryos to alter genes that are active within the first few days after fertilisation of the egg.

The approved research would utilise healthy human embryos that had been left over from in vitro fertilisation procedures performed in fertility clinics. However, the caveat was that the researchers should stop the research after seven days of study, and the researched embryos destroyed. The study would illuminate how the modification of genes could assist in developing treatments for infertility.

MOST RECENT SUCCESS

A report in the most recent edition of the New England Journal of Medicine informed that a teenage boy with sickle cell disease appeared to have been cured using the gene therapy technique. The treatment had stopped the painful symptoms of the disease, and the teenager was doing well.

Success stories such as this are normally the first step in efforts to reproduce the benefits obtained in individual cases by conducting clinical trials of the treatment on large groups of affected people. Hopefully we will hear of such studies and their outcomes in the near future.

Until preliminary results are verified, however, scepticism will exist regarding whether the positive results obtained in one person will be translated to many more people. Time will tell.

Derrick Aarons MD, PhD is a consultant bioethicist/family physician, a specialist in ethical issues in medicine, the life sciences and research, and is the Ethicist at the Caribbean Public Health Agency CARPHA. (The views expressed here are not written on behalf of CARPHA)

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Treating sickle cell disease with gene therapy - Jamaica Observer

For The First Time Ever, Scientists Have Successfully Created An … – Wall Street Pit

For The First Time Ever, Scientists Have Successfully Created An Artificial Embryo

It may soon become possible to grow artificial human life in a lab by using stem cells to create an actual embryo. While that might creep some people out because it sure sounds a lot like a precursor to designer babies or even clones, the scientists doing the research would like to make it clear that their intention is something totally different.

By growing embryos and replicating what happens during the early stages of reproduction, they are hoping that they will be able to understand why more than two out of three miscarriages happen, and use then this knowledge to prevent or at least minimize such unfortunate circumstances. In other words, the research is being done to help prevent the loss of lives, not create artificial ones.

Right now, scientists are only allowed to conduct experiments on embryos developed from egg cells donated through in vitro fertilization (IVF) clinics. There arent many of those, however. Plus, regulations (and ethics) dictate that they have to be destroyed after 14 days. But by being able to create their own unlimited supply of artificial embryos, research can be done faster and more extensively. As an added bonus, ethics will not be an issue.

To create the embryos, a research team from the University of Cambridge led by Professor Magdalena Zernicka-Goetz combined embryonic stem cells (ESCs) with extra-embryonic trophoblast stem cells or TSCs (the ones responsible for forming the placenta during a normal pregnancy).

Previous attempts to grow embryos didnt work because only embryonic stem cells were used and this prevented the cells from assembling in their correct positions. Adding the second type of placental stem cell solved this problem.

According to Professor Goetz, although they are aware that interaction between different types of stem cells is important for development, their experiment showed just how important that partnership was. After adding the extra-embryonic trophoblast stem cells, the two types of stem cells began communicating with each other, almost like guiding and telling each other where to go, what to do, and when to do it, until they were eventually able to form an embryo-like structure appearance-wise and behavior-wise, with separate clusters that will give rise to the different body organs, if development was allowed to continue.

The research team is quick to point out, however, that this is as far as they will allow it to progress. In other words, the artificial embryo will not continue to grow into a fetus because it will need a third type of stem cell for that one which forms the yolk sac that is responsible for providing nutrition.

So far, the technique has only been tested on mouse stem cells. Eventually, the team hopes to achieve the same results on human stem cells. And that might prove to be the key that can potentially help solve the problem of failed pregnancies in the future.

As Professor Goetz said in a statement she issued, the team is very optimistic that this will allow [them] to study key events of this critical stage of human development without actually having to work on embryos. Knowing how development normally occurs will allow us [noted Goetz] to understand why it so often goes wrong.

The research was recently published in the journal Science.

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For The First Time Ever, Scientists Have Successfully Created An ... - Wall Street Pit

COMMENTARY: Saving a 10-year-old’s life but at what cost? – Globalnews.ca

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A researcher pulls a frozen vial of human embryonic stem cells at the University of Michigan Center for Human Embryonic Stem Cell Research Laboratory in Ann Arbor, Mich.

Im no Nostradamus. Neither was Nostradamus, come to think of it. But one doesnt need to be to see how ethically icky, in the professional vernacular, the future of medicine is going to be.

To paraphrase Captain Kirk, our medical tools are growing faster than our wisdom. The future isnt now, yet, but its closer than we realized. And almost certainly closer than were ready for.

Consider the case of the Al Sabbagh family. They recently arrived in Canada from Syria, with their children, including their son, Mohamad. Mohamad is 10 and suffers from idiopathic aplastic anemia, a rare condition. Mohamad has a severe case, and it would likely be fatal if untreated.

READ MORE:Could you save his life? Edmonton boy needs to find stem cell match

His illness has left his body incapable of producing blood cells necessary to remain healthy. According to a report in the CBC, he requires twice-weekly blood transfusions at the Hospital for Sick Children in Toronto. Even with those, his quality of life has absolutely been impacted.

Theres a chance for Mohamad to live a healthy, normal life. A bone marrow transplant could restore his ability to produce the blood cells he needs. But the donor must be a very, very close match. Mohamads parents are not optimal donors, neither are his siblings. Its also possible to seek a donor through public donor banks, but you want as close a genetic match as possible.

Canadas Arab population is relatively small, and the number of those Canadian-Arabs whove put their information into a donor registry is even smaller. The odds for young Mohamad are long.

READ MORE:Quebec family hopes to raise awareness for patients in need with stem cell registry drive

Thats led his parents to consider a remarkable step. New embryos could be created, using in vitro fertilization techniques, using the genetic material of his parents. The embryos can then be genetically screened, with only the best match implanted into Mohamads mother for gestation and delivery. That baby could then be used to provide a potentially life-saving transplant of stem cells into Mohamad.

If all went well, Mohamads bone marrow would regenerate, curing his illness. The infant would not be endangered (the donor cells would be collected from the umbilical cord blood, not the infants body).

There aretwo equally valid ways of looking at this. Indeed, they should go hand-in-hand. As a father of two young children myself, I cant fault the Al Sabbaghs for wanting to save their son, at any cost. If my children were suffering and this was the best chance to cure them, I wouldnt hesitate to sign on whatever dotted lines were required. Adding a third child to our family would be a blessing. I confess to not consulting with my wife before writing that, so dont blow my cover, but if thats what it took, I know wed be on board.

READ MORE:Calgary boy meets stem cell donor who saved his life: its a miracle

But on the other hand, how can it not send chills down your spine to think of creating a human being purely to benefit someone else?

This is not a criticism of the Al Sabbaghs, nor of any other family that has previously conceived a so-called saviour sibling. I 100 per cent understand the urge to save the child you have. Theres no moral blame here. But good Lord, what a strange path were embarking on.

A few decades ago, this wouldnt have been possible. The Al Sabbagh family would have had limited choices.

Bone marrow transplants have been around since the 1970s, but the ability to conceive multiple children, genetically screen them for compatibility and then bring specifically the best match to term, is much newer. Its a small peek into a future were just arriving at.

READ MORE:I need a man: Ethnic donors desperately needed for bone marrow registry

Medical technology is advancing rapidly, and stem cells are a particularly promising field. But as we push these technological envelopes, were going to encounter tough moral dilemmas that we are not ready for. Indeed, we probably havent even thought of them yet.

Im not a medical ethicist, nor an expert in the field of stem cells and transplantation. But one doesnt need to be to wonder about the morality of creating a person to save another. Even if the saviour sibling lives a long, healthy and happy life, cherished by its parents and the brother it saved, you cant help but wonder what psychological toll it would take knowing you were, at birth, essentially raw materials. And its also not too hard to envision a future where this treatment could be used more broadly, with new life being created simply to cure the injuries and illnesses of those already living.

After all, why not? Dont the needs of the sick and dying today take precedence over people who only exist in theory?

It seems wild now, like something out of science fiction. But our sci-fi daydreams have a habit of becoming reality. Are we ready for what this would mean? Are we prepared for a future where children can be conceived and harvested for parts? Would we feel better if the raw material babies were genetically tweaked in such a way that they never developed consciousness, and were therefore something less than human? Would it soothe our consciences to breed human tissue to serve just as spare parts if the bodies never grew a brain?

None of this matters much for Mohamad, a 10-year-old boy lucky enough to be born in a time and now live in a place where modern medical miracles make curing his brutal illness possible. And no one should judge the desperation of a mom and dad who just want their son to live a long, healthy, normal life.

But consider this a case study, a sample of the future. We are moving into new frontiers in leaps and bounds. I hope to hell were ready for the questions well face once were there.

Matt Gurney is host of The Morning Show on Torontos Talk Radio AM640 and a columnist for Global News.

2017Global News, a division of Corus Entertainment Inc.

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COMMENTARY: Saving a 10-year-old's life but at what cost? - Globalnews.ca