Gene therapy and Haemophilia cure-A reality now

Hi everyone, long time no see. I have been spending my time revising for the ukcat and doing so many other things such as volunteering and mentoring students for the Generation Bridge Project. Today id like to share a research paper I submitted to the British Society of Gene and Cell Therapy.

Haemophilia A is an X linked bleeding disorder caused by genetic mutation thus resulting in an insufficient protein  that is required for blood clotting.1 Factor VIII deficiency in Haemophilia A results in frequent and severe bleeding tendency that can be life threatening. Hemophilia A occurs in 1 of 5,000 male births and estimates suggest that there are more than 2,000 patients of severe Haemophilia A in the United Kingdom. Severe Haemophiliacs virtually don’t have any factor VIII for the blood to clot. 1,2,3

Treatment of Haemophilia A has come a long way. Starting with snake venoms in 1930 for blood clotting, treatment options moved to fresh frozen plasma in 1960. In 1992, the first recombinant factor VIII product was approved in USA by the Food and Drug Administration (FDA).4 The present treatment involves lifelong injections of missing factor VIII concentrates several times per week in order to prevent bleeding.2

Scientists have always fancied to find gene therapy as a cure for haemophilia. The basic concept is to replace the mutant gene with a healthy copy of gene. After many years of research the gene therapy is about to come a reality. The latest trial has been carried out by researchers including those from Cambridge University Hospital, Imperial College London, Barts and from BioMarin Pharmaceutical in the US, which is developing the gene therapy. The eventual aim of treatment is to replace defective gene sequence with a corrected version that will trigger the manufacturing cells to release therapeutic factor VIII into the circulation of haemophilia patients thus curing the disease for lifetime of the patient. The new treatment tactics employs an adeno-associated virus, modified forms of the virus to deliver missing sections of DNA, but the virus itself doesn’t cause any symptoms. The adeno-associated virus AAV serotype transfers missing DNA to the liver cells so they could start making factor VIII.1 This new treatment is a single injection process. This clinical trial study is basically a dose escalation study, where people were given sequentially increased doses of a treatment to be sure it’s safe before the next patient is given a higher dose. Researchers recruited 9 men with haemophilia A. The all participants had their regular factor VIII injections suspended for the trial, although they could use and benefit from factor VIII if they experienced any bleeding .The first person was given a low dose, and the second person an intermediate dose. The third participant received a higher dose, and when that was shown to work without any problems, another 6 men were given the higher dose.
The 2 men who had low or intermediate doses of gene therapy there was a little change in the levels of factor VIII, they continued to experience bleeding episodes, and were required to continue factor VIII injections. Among the 7 men who received the higher dose, all had levels of factor VIII of more than 5 IU per decilitre by 9 weeks after gene therapy. In 6 patients factor VIII levels plateaued to a normal value (more than 50 IU per decilitre) and remained at that level a year after gene therapy. The average number of bleeding events dropped from 16 before therapy to 1 after therapy. None of patients developed antibodies against the factor VIII and all of them were able to stop injecting factor VIII. Those participants who had high dose therapy all showed an increase in a liver enzyme up to 1.5 times the normal level but they didn’t report having any symptoms from this increase, and liver cells continued to produce factor VIII.5.6.7

We have seen enormous progress in field of gene therapy for Hemophilia A and results are impressive.8 This gene therapy is one off treatment for entire life time and could change the lives of thousands of people around the globe who rely on factor injections as often as other day. The results from this early trial of a therapy is a remarkable success however it may take some time   before the treatment is available widely. Results need verification in much larger groups of people as well as in children. We also need safety data in these large groups to be sure that the treatment doesn’t cause serious health problems especially in the longer term. Economics is another challenge as costs of new drugs tend to be alarming but there is no doubt that the future of Haemophilia patients is brighter.


1- David S and Jay NL. Gene therapy for haemophilia: Prospects and challenges to prevent or reverse inhibitor formation. Br J Haematol. 2012 Feb; 156(3): 295–302.

2- Arthur W. et al. Gene Therapy for Hemophilia.



5- Savita R et al. AAV5–Factor VIII Gene Transfer in Severe Hemophilia A. N Engl J Med 2017 Dec; 377:2519-2530.



8- Samuel LM  and Katherine A H. Gene therapy for haemophilia. Br J Haematol. 2008 Mar; 140(5): 479–487.

Expanding Awareness- Trip to Uganda (Child Africa), HIV issue

The trip to Uganda, a once in a lifetime opportunity I was glad to have obtained. It was an experience that brought to my awareness the harsh reality of third world countries and the environment many individuals hopelessly aim to strive in. I was glad to have gotten this opportunity as it was an enrichment option offered at my school, although only some individuals were chosen from a difficult entry process. This eye opening adventure was for the charity Child Africa and began when my class and I drove through Kampala and into Kabale where we stayed. Although I aimed to mentally prepare myself, visiting the several schools was a very sad yet rewarding event that I realised no one could prepare themselves for. To witness the hope and happiness brought to the faces of young children by the simple presence of foreigners and some donations was shocking.

For the two weeks I was there I took part in many activities in hopes of creating an improved and safe learning environment for the children which included building a school fence, teaching lessons, gardening, and building close bonds with many of the children. Although some days the work was both physically and mentally draining alongside strenuous, the rewarding outcome I knew was achievable drove me to continue the hard work regardless of the conditions such as the hot weather or heavy rain. The donations were of which my self and the school fundraised and worked hard to attain, this included  2750 pairs of shoes. Apart from the school throughout the city I soon came to the realisation that the problem of HIV was a major medical issue and concern in the city. It was evident that HIV test centers were spread throughout the city numerously as large advertisements suggesting the importance of testing for this virus were posted on several areas and walls in the roads. Furthermore, with the school my fellow classmates and I did home visits. One of these stuck out to me, a family where the father and son were both HIV positive. The sickness that was seen and the conditions they were living in, in a country were little awareness, knowledge and hope is available for these issues made it very clear that these individuals were not going to be able to obtain medicine to slow this virus down. This harsh sad reality strengthened my desire of wanting to be a doctor as In the future I aim and hope to go to developing countries like Uganda to provide treatment for crucial issues such as HIV.


Should Euthanasia become legalized in the UK? NHS perspective

The debate regarding Euthanasia is one that remains ongoing and is one that holds a crucial significant role in the minds of many. The subject of this topic is one that is highly controversial and is a divisive topic that opens and raises array of concerns from moral, ethical, and religious. Euthanasia is founded by a Greek word meaning good death, and from a medical perspective what is being considered is voluntary active euthanasia. The debate concerning this issue was currently re sparked when recently on May 10th 2018, a British-born Australian botanist and ecologist at 104 years old went to Liestal, Switzerland to become euthanized. Due to Euthanasia not being legal in the UK many considering this possibility spend thousands to go to places like Dignitas Switzerland, or Liestal Switzerland, this creates logistical challenges as it means only some are able to do it. It is a possibility that is held in high regards and is constantly being argued, in 2006 there was a 7 hour debate in the UK parliament to pass a bill in regards to Euthanasia however the bill was declined with a 148 to a 100 vote.

Looking at this issue from a religious perspective it is evident that many religions would be against this matter as it degrades the value of God’s creation and reduces the sanctity of life. These are the thoughts of many religious leaders that came together in 2005 and agreed that they were against euthanasia. In contrast to this perspective, many individuals who perceive euthanasia from a moral perspective are often in favor of it as they believe everyone has the right to die especially die with dignity. They may also believe that Euthanasia is vital in relieving the suffering that many go through especially those who have terminal illnesses like locked in syndrome where there is no longer a possibility of them getting better.

Although both of the perspectives considered so far are valid, once looking at this issue through the statistics and facts regarding the NHS, and individuals stance on this matter may become differd. The British Medical Association is considering the possibility of allowing euthanasia but many believe this is hypocritical as it goes against the prime desire of a doctor and the oath doctors swear by which is to save lives. The NHS currently spends around 32.2 billion pounds on palliative care. With the increasing world population, and the advancements of the healthcare system, individuals are living longer. This results in an increase of individuals demanding and needing services like palliative care however many including the NHS in the future may believe that too much money is being provided to these matters when instead it can be used to fund the lives of people who are just starting to achieve their potential.

Six states in the US and four countries in Europe have legalized some form of assisted dying. More than 244 terminally ill people have had to travel abroad from Britain to end their life legally however this may change as in the future it is a likely possibility that euthanasia will become legalized in the UK. The choice of permitting or declining euthanasia should be considered thoroughly, and a decision that satisfies all religious moral ethical and practical perspectives should and surely will be made by the NHS.



Universal Vaccine for Flu

It’s currently the Easter holidays and I’m spending my time…revising. While I was studying for biology I came across antigenic variability. I found this pretty interesting and therefore I decided to research it, this when I came across the fact that a universal flu vaccine is being created. More than 10,000 people aged 65 and over will be asked to take part in a study supported by the NIHR and delivered by the University of Oxford. The influenza virus currently impacts around a billion people worldwide a year with around 250,000 to 500,000 annual deaths, mainly in the over-65 age group. Currently, the available vaccines are only 30 to 40% effective of over 65s due to the immune system weakening with age and researchers believe the new vaccine could increase this.

The current vaccines available to fight this flu use the antigen proteins located on the surface of the virus to stimulate the immune system causing it to produce antibodies, however due to the virus changing each year, so do the surface proteins, haemagglutinin and neuraminidase, therefore the flu vaccine needs to change too. Global scientists normally have to predict what the new antigens will look like however this is not very effective. The new vaccine being made is different as it uses the core proteins of the virus instead of the surface antigens. These core proteins remain virtually unchanged in all influenza A viruses, giving researchers the opportunity to create vaccines that will work against all of them. This new vaccine stimulates the immune response to produce T cells rather than antibodies that will kill the virus.

The NHS has started clinical trials for this new vaccine in hopes of an elusive goal that would eliminate our need for annual injections and have massive benefits for global public health.

I did my research from:


Medlink Conference Experience

Recently, from 17th to 19th of December 2017 I attended a course/conference called Medlink which was held in the University of Nottingham. This residential conference was held for aspiring medics including myself. I found this event to be highly beneficial as I found it to increase my knowledge due to it providing crucial information and is an event I would highly recommend. The course covered various different aspects such as preparation for admission tests, chemistry classes, and personal statement writing alongside general knowledge regarding the medical field of work.

This course allowed me to be confident in my choice of wanting to become a doctor as it confirmed this was the field of work I was interested in. Although I went with some great friends, at the end of it I realised I had made so many more. The experience of being able to talk and relate to individuals my age who had similar interests in me, encouraged me to stay confident and work hard to achieve my goals.

I found the speakers of the course to be extremely inspiring, beneficial, and informative. All of them had great enthusiasm, energy, and humour which allowed me and fellow attenders to stay interacted throughout the long lectures. My favourite speaker had to be James Ridgeway. This is due to him providing an extremely inspiring and insightful useful lecture that caused me to be proactive and do things such as create a blog to share my experiences online with other fellow students/ inspiring medics.

Although I do a lot of traveling, this was one of the first real experiences where I had gone away from home without my family. Spending time in the university residence halls allowed me to understand what my future may be like and provided an insight into university life. Furthermore, doing so allowed me to understand and recognise the fun side of university alongside the more academic aspects.

Near the end of the conference on the last day, I was able to interact with many representatives from various universities which I found to be incredibly beneficial as it allowed me to gain knowledge and answers to various questions I had such as entry requirements.

In conclusion, this experience allowed me to gain knowledge, become wiser, more inspired, and encouraged than I was previously.

Causes Of Human Disease: Understanding Causes Of Disease course

Due to me being interested in scientific discoveries specifically those to do with medical advancements I decided to take part in an online course that I believed would help expand my knowledge regarding several topics. The course I participated in was offered by the University of Leeds and was called, CAUSES OF HUMAN DISEASE: UNDERSTANDING CAUSES OF DISEASE. I found this course to be wonderful as it was beneficial in providing information which I found crucial as it allowed me to deepen and expand my knowledge regarding issues and success that take place throughout the world due to medical advancements. The two week time period was effective as it allowed me to continue my academic studies but still spend time gaining extra information. The topics I learned about were the principles of population health, and the social determinants of health. Furthermore, apart from this my favourite topics that I learned about were health inequalities and global perspectives due to the fact that they provided information regarding issues that are occurring throughout the world that I wouldn’t necessarily have known about If I hadn’t done this course. Doing so allowed me to understand various things such as how developing countries often struggle with issues such as infant mortality rates due to them unfortunately not having advanced medical knowledge and resources.

Major medical advancements in 2017

Advancements of technology has allowed scientist and individuals to attain many beneficial and crucial medical advancements that will shape the future and allow for more endless possibilities to be discovered. Here are a few of the many developed this year:

1. Growing organs in a petri dish to help treat cystic fibrosis
A 53 year old patient known as Els van Der Heijden with cystic fibrosis took part in a medical advancement that has reshaped the medical world. At first doctors were confused as this patient was not benefiting from the expensive well known medicine she was taking and so therefore the doctors were hesitant to try an even more expensive drug as it had not been proven to work in people with the rare type of cystic fibrosis that Van der Heijden had. Instead of doing this the doctors effectively scraped some cells from the patient and grew a mini version of her large intestine in a petri dish in order to test the effectiveness of the drug. So far, doctors have grown mini guts – just the size of a pencil point – for 450 of the Netherlands’ roughly 1 500 cystic fibrosis patients.

2. Lymph-node transplant surgery in South Africa a success

A man suffering from Lymphoedema and an advanced skin cancer in South Africa has received successful reconstructive surgery. Lymphoedema is a common painful side effect of cancer and cancer treatment. At Life Vincent Pallotti Hospital, surgeons successfully performed a novel vascularised lymph node transfer. This procedure is done on small blood vessels to treat Lymphoedema and will now be able to benefit many individuals.

3. Lab-grown skin saves boy dying from rare genetic disease

A young boy in Germany with a rare genetic disease called epidermolysis bullosa was on the verge of death as this disease had destroyed 60% of his skin and had made it extremely fragile and thin. With the use of stem cells and gene therapy, doctors were able to engineer a fully functional skin for the boy. This made him the first individual in the world to receive a skin transplant of this magnitude. This advancement and operation has allowed doctors and scientists to understand and develop the potential of this specific technology.

4. HIV eliminated from mice

A study first published in the journal of Molecular Therapy stated the important breakthrough in regards to HIV. HIV is the human immunodeficiency virus which is estimated to affect around 37.7 million people in 2016. With the use of CRISPR (gene editing) therapy, scientists discovered that they could successfully cut out the HIV virus from mouse cell. In the time span of a few years scientists are hoping that this discovery could lead to a possible breakthrough with the cure of the disease in the hopes of improving the condition of many individuals’ lives.

5. The first robot-assisted super-microsurgery

Surgeons from the Maastricht University Medical Centre in the Netherlands executed the first robot-assisted super-microsurgery. The robot stitched vessels as small as 0.3 mm to treat lymphoedema in a patient. It’s a delicate procedure but the robotic assistance made it go without a drawback.

Sources I used: (30/12/17)

Let’s wait and see what 2018 has to offer!

Turmeric the new miracle cure for Cancer and Alzheimer’s disease?

Turmeric. A common spice often used in dishes I grew up eating. Due to it having many health benefits I decided to make it the topic of today’s blog.

Cancer and Alzheimer’s disease are just two of the many diseases that turmeric may be able to treat. It is a common yellow spice often used in dishes such as curries. Turmeric is harvested from yurmeric root often most commonly founded in in Southeast Asia as it is native to there. In recent months due to scientific studies, it has been discovered that turmeric possesses anti-inflammatory and antioxidant properties.

The spices benefits have been backed up by a cohort of studies including one made recently which discovered that turmeric contains a chemical known as curcumin which may be the key to a new cancer.

However, there are claims that consuming this spice which has been used for centuries in countries such as India and china may do little more than add flavour. A ground breaking discovery published by the journal of Medical Chemistry discovered that turmeric may have little health benefits as it involved a review of scientific literature on curcumin.

Michael Walters, co-author and research associate professor at the University of Minnesota, states: “These studies have become a part of folklore, and their actual results don’t really measure up to what they’re quoted as.”

Researches often had conflict over the validity of the spices power as they weren’t able to attain any double-blind, placebo-controlled clinical trials, known as the gold-standard of medical research, on the spice.

Due to their both being positives and negative aspects of the spice such as its ability to be beneficial for preventing insulin resistance, improving high blood sugar and reducing the toxic effects of high blood glucose levels – meaning it could help diabetes however it having a link to obesity causes there to still remain some confusion upon its actual desire of treating a disease.

I did my research from:  (22/12/17) (22/12/17)


Hello world!

I am Mahrukh Khan. A 17 year old student from Littleover Community school in Derby. I moved from Canada in year 11, completed my GCSE’s in one year and am currently studying Biology, Chemistry, Geography, and Religious Studies in A level. My ultimate aim is to study medicine and become a doctor as it is an aspiration of mine that I hold in high regards. In my spare time I like to play badminton, soccer, skateboard, and run cross country.