CRISPR – all you need to know in a 3-minute read

As a Protein Engineer by training, I was asked to write my take on the huge hype around the gene editing technology called CRISPR. Here is a summary of my deep dive into this thrilling story and its potential to revolutionise Medicine as we know it.

 

CRISPR – what is it?

The CRISPR-Cas9 (or CRISPR for simplicity) molecular machinery was extracted from bacteria, who employ it for protection against repeated viral infections. It is composed of Cas9 – a nuclease – and a guide RNA made of clustered regularly interspaced short palindromic repeats (CRISPR), which together recognise a specific DNA sequence and cleave it with unprecedented selectively. The CRISPR system is so efficient and precise that it has been nicknamed “the molecular scissors” and “a DNA scalpel”. To add to its convenience, CRISPR works across all kingdoms of life, from bacteria, to plants, humans and other animals.

 

How does gene editing work?

Once CRISPR has cleaved a DNA sequence, the cell’s repair mechanisms can be utilised to perform diverse modifications. For example, the non-homologous end joining (NHEJ) pathway directly ligates the break ends and often results in a nonsensical DNA sequence that will not be translated into a functional protein. Conversely, homology-directed repair, joins the DNA ends using a template sequence that can be fed to the cell. This pathway offers an opportunity for gene repair, gene removal, and adding new genes.

In summary, CRISPR is a technology that allows accessing the code of life of any type of cell, and editing it to one’s will, albeit with a very low but non-zero rate of off-target effects.

 

CRISPR in clinical studies

The first clinical trial involving CRISPR-modified cells began in October 2016 (NCT02793856). In this Phase I study led by the Sichuan University, T cells are collected from patients with metastatic non-small cell lung cancer, their programmed cell death protein 1 (PDCD1) gene is knocked-out in the laboratory by CRISPR, before being infused back in each patient. A similar study was due to start early this year in the US, and a total of 6 studies using the same approach are currently listed on clinicaltrials.gov. The careful ex-vivo approach used in these studies, aims at circumventing the potential problems that inaccurate editing could bring in-vivo.

In an even more ambitious study (NCT03057912, due to start in July 2017), a plasmid coding for the molecular machinery of CRISPR directed against HPV will be applied directly on the cervix of women with HPV-related malignant neoplasm. The study’s primary objective is assessing tolerability and therapeutic doses of the treatment.

 

CRISPR in the future

If initial trials are successful, CRISPR could be used in the future to eradicate infectious illnesses such as HIV, to target various types of cancer, and to fix the genetic errors responsible for cystic fibrosis, Huntington’s disease and other incurable diseases. CRISPR could be the key to most of our current healthcare challenges.

The most controversial aspect of CRISPR is that it could, at least in principle, open the door to genetic engineering of human embryos. A team composed of experts in the field, including the inventors of the CRISPR machinery used nowadays, discussed this issue during a 3-day meeting in December 2015 and issued a statement in which they strongly discourage any use of CRISPR in germline cells at least until the safety of the method has been proven unequivocally, and until there is broad societal consensus.

For the time being, CRISPR is a fantastic research tool that allows probing in-vitro the many mysterious treasures that still hide in the code of life. Investigating carefully its medical potential in clinical research on somatic cells will help discover its true potential as a life-saving technology. In the meantime, it is our duty as scientists, politicians and citizens to ensure that clear regulations are developed to protect our genetic heritage from unethical and dangerous alterations.

Breast cancer: From awareness to action

October is Breast Cancer Awareness Month, a campaign backed by the World Health Organization1 as well as numerous brands, and is marked in countries throughout the world1. The aim is to increase attention and awareness of breast cancer and through this improve early diagnosis, treatment and palliative care1.

Awareness campaigns are particularly relevant in countries with limited health infrastructure — with mammography screening being costly, detection of breast cancer is sometimes reliant on individual awareness of the early signs and symptoms14

Worldwide, there are an estimated 1.67 million new cases on breast cancer per year2. This makes it the second most common cancer in the world and the most frequent among women2,3. In several countries, mortality has decreased since the mid-1990s but in some parts of the world the number of deaths has remained constant or is even increasing2. In developing regions, breast cancer remains the most frequent cause of cancer death in women with over 500,000 deaths recorded in 20122.

breast cancer signs symptomsIn healthcare settings that support early detection and that have basic treatment available, localized breast cancer has a five-year survival rate of over 80%4. In contrast, in settings with limited resources the five-year survival rate drops to 10–40%4. Differences in survival rates mirror the awareness of breast cancer — in low- and middle-income countries most women are frequently diagnosed in the late stages of the disease1, something that might be reduced with increased access to health services and with greater awareness from both the public and healthcare providers of the benefit of early detection1. For information on the use of mammography in a variety of settings, a WHO position paper is available here. In November, the WHO will publish advice on how countries can improve diagnosis of breast and also other cancers.

Disease awareness campaigns play an established and very real role in realising the potential of modern medicine. The inequality in breast cancer mortality illustrates the discrepancies in out-reach that awareness campaigns may have and the ongoing importance of health literacy and education for awareness. Annual Breast Cancer Awareness Month is a reminder that greater health literacy and education are key to combatting preventable causes of death.

References

1. World Health Organization. Accessed 24th October 2016. http://www.who.int/cancer/events/breast_cancer_month/en/

2. Globocan 2012. Cancer Fact Sheets. Breast. Accessed 24th October 2016. http://globocan.iarc.fr/Pages/fact_sheets_cancer.aspx

3. Globocan 2012. Population Fact Sheets. World. Accessed 24th October 2016. http://globocan.iarc.fr/Pages/fact_sheets_population.aspx

4. World Health Organization. Accessed 24th October 2016. http://www.who.int/cancer/publications/mammography_screening/en/

5. American Cancer Society. Accessed 24th October 2016.  http://www.cancer.org/cancer/breastcancer/detailedguide/breast-cancer-signs-symptoms

 

World Alzheimer’s Day: #RememberMe

The 21st of September is World Alzheimer’s Day.1 Alzheimer’s disease is the most common type of progressive dementia and occurs in elderly and middle aged people. The most striking feature of the disease is the progressive loss of cognitive abilities. This affects memory, the capability to solve tasks, and it can induce behavioral and emotional changes. This not only affects the lives of those with Alzheimer’s but also the lives of their families and loved ones.2 Currently there is no cure for Alzheimer’s disease, but even as you read this, researchers all over the world are working out new ways to develop novel treatments to reduce symptoms.

 

Someone in the world has developed dementia

by the time you finish reading this sentence

 

Alzheimer’s does not distinguish between gender, ethnicity, or social class. With an increasing average age of life expectancy, Alzheimer’s numbers rise every year. Today 46 million people live with dementia, and this number is expected to reach 74.7 million by 2030.1 This is one of the many reasons why we should care about Alzheimer’s disease.

Aside from staying informed about Alzheimer’s and dementia, here’s what you can do to help raise awareness:mw-blog-alzheimers-day-v00-03-20160921_graphic_1-copy

  • Inspire our communities to take part in Alzheimer’s research
  • Communicate to policy makers the importance of funding Alzheimer’s research and funding programs for treatment, care, and risk-reduction
  • Take part in local events
  • Keep the importance of health literacy and patient education in mind when communicating about Alzheimer’s and dementia
  • Support the World Alzheimer’s Month campaign by visiting their website and using the hashtags #RememberMe and #WAM2016

References

  1. Alzheimer’s Disease International. World Alzheimer’s Day 2016. Accessed September 2016 at: https://www.alz.co.uk/world-alzheimers-month
  2. Alzheimer’s Disease International. World Alzheimer’s Report 2015. Accessed September 2016 at: https://www.worldalzreport2015.org/
  3. Alzheimer’s Disease International. About Dementia. Accessed September 2016 at: http://www.worldalzmonth.org/en/about-dementia

 

 

Swiss Multiple Sclerosis Day

Tomorrow, June 25th, is the first ever Swiss Multiple Sclerosis Day, organised by the Swiss Multiple Sclerosis Society. It’s a day where patients, care givers, researchers and society members can come together to share their experiences, to learn about MS and to discover how the Swiss MS Society can offer support each and every day.

What is MS?

Multiple Sclerosis (MS) is a chronic inflammatory autoimmune disease that damages the fatty material called myelin, which is wrapped around your nerves in the central nervous system. Because of the damage, the nerve cells cannot properly communicate with one another, and the signals between the brain and the rest of the body do not travel correctly anymore. Symptoms can vary massively between patients and may include problems with muscle control, balance, vision or speech.

Research

The exact cause of MS remains unknown, but there are many ongoing studies on genetic and non-genetic risk factors, including exposure to viruses, vitamin D levels, smoking and obesity.

Although there is no cure for Multiple Sclerosis at this time, substantial research on this disease is underway. In addition, with the help of various societies, including the Swiss Multiple Sclerosis Society, and better treatment options than ever before, quality of life is improving for many MS patients.

Swiss MS Registry

A vital aspect of performing impactful research on the topic of MS is to have good knowledge on the epidemiology of the disease in any given region of the world. Whilst Switzerland has very active ongoing research on MS, a national registry did not, until now, exist. In 2013 the Swiss MS Society partnered with the University of Zurich to initiate and fund a national MS registry for Switzerland.

The goal of the registry is to gather information about MS patients throughout Switzerland, in order to provide a knowledge base that informs both patients and healthcare professionals about strategies for evidence-based and patient-centred care.

Multiple Sclerosis is a variable condition and is different for everyone who has it. Because it is so different for each person, it is important that MS patients share their stories with each other and the public. The collection of these stories are also a part of the new MS registry, and the celebration of the stories will be a part of Swiss MS Day.

«The fate and path of every MS affected person is important to truly understand Multiple Sclerosis. Hence the Swiss Multiple Sclerosis Society and the EBP Institute (University of Zurich) will launch the Swiss MS Registry at the first Swiss MS Day in Zurich. The Swiss MS Registry was developed in close collaboration with those who have MS, as well as with medical professionals, in order to improve their quality of life and to one day succeed in finally beating MS.»

Christoph LotterVice Director, Swiss Multiple Sclerosis Society

Swiss MS Day

In celebration of the new registry, the Swiss MS Society is hosting a daylong event dedicated to MS on Swiss MS Day, Saturday, June 25. The first annual national Swiss MS day will showcase the variety of areas the society is working on each day: leisure and quality of life, education and work, therapy and life improvement and knowledge and research. The event will be packed with information and services, special guests, entertainment and hosted by former Miss Switzerland, Christa Rigozzi. The event is free of charge and the agenda, along with other information, can be found on the Swiss MS Society’s website. Medicalwriters.com is the communications partner for the Swiss MS Society. We are proud to support their hard-work and effort to help those with MS throughout Switzerland.

World Health Day 2016: Beat #diabetes

The World Health Organization’s annual World Health Day will be held 7 April, and will tackle the growing global issue of #diabetes.

According to the WHO, the broad goals of making diabetes the focus of #WorldHealthDay2016 are to increase prevention efforts, strengthen care and enhance surveillance. In more detail:

  • Increase awareness about the rise in diabetes, and its staggering burden and consequences, in particular in low-and middle-income countries.
  • Trigger a set of specific, effective and affordable actions to tackle diabetes. These will include steps to prevent diabetes and diagnose, treat and care for people with diabetes.
  • Launch the first global report on diabetes, which will describe the burden and consequences of diabetes and advocate for stronger health systems to ensure improved surveillance, enhanced prevention, and more effective management of diabetes1.

Diabetes_2

That’s because diabetes has become one of the major causes of premature illness and death in most countries, mainly through the increased risk of cardiovascular disease — which itself is responsible for 50–80% of deaths in people with diabetes2. Eighty percent of diabetes deaths occur in developing countries, where the population most frequently affected is between 35 and 642. This means people at relatively young ages are not only dying due to diabetes, but also living with other conditions caused by diabetes, including blindness, lower-limb amputation and kidney failure. Furthermore, reports of type 2 diabetes in children, considered a rare condition in the past, now account for nearly half of newly diagnosed cases in children and adolescents2.

Diabetes_1

However, type 2 diabetes is preventable. It’s a chronic disease that occurs either when the pancreas does not produce enough insulin (which regulates blood sugar) or when the body cannot effectively use the insulin it produces. If the cells do not react to insulin properly, by absorbing enough sugar from the blood, glucose builds up to harmful levels. Thus, simple lifestyle measures can be implemented to prevent, delay or help manage type 2 diabetes in many cases: maintaining normal body weight, engaging in regular physical activity and eating a healthy diet.

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Take the WHO’s quiz to find out how much you know about diabetes. Then join the effort to raise awareness, increase access to diagnosis, spread the word on self-management education, and more with a variety of World Health Day 2016 resources.

References

1. World Health Organization. World Health Day 2016: Beat Diabetes. Accessed March 2016 at: http://www.who.int/campaigns/world-health-day/2016/event/en/

2. World Health Organization. 10 Facts About Diabetes. Accessed March 2016 at: http://www.who.int/features/factfiles/diabetes/facts/en/

 

World Cancer Day 2016 #WorldCancerDay #WeCanICan

February 4th is World Cancer Day and this year it’s all about action. #WeCanICan

World Cancer Day is about exploring ‘how everyone – as a collective or as individuals – can do their part to reduce the global burden of cancer’ (WorldCancerDay.org). It’s a day to make people aware that their actions, like smoking, can play a part in them potentially getting cancer, but also, that people can take action if they or a loved one is diagnosed with cancer – Ask For Support.

Goal of World Cancer Day

To get as many people as possible around the globe to talk about cancer on 4 February

 

This year they’re encouraging everyone to join the ‘Talking Hands’ social media campaign and show their messages, their support and what actions they’re taking, on their hands. Find out more on how to join the campaign with their toolkit.

To find out what we can do and what you can do, for yourself and others, check out worldcancerday.org.

New medical devices regulation – a liger in the EU legislative jungle

The recent vote in the European Parliament’s Committee for Environment, Public Health and Food Safety (ENVI) has created a lot of concerns for the medical device industry in Europe. The main fear is that the proposed amendments will do little to improve patient safety and that we are now witnessing a grotesque political compromise in the making that will only add more layers of regulation and bureaucracy. The chief executive officer of Eucomed, Serge Bernasconi, stated in a press release 1,

“Let it be clear that this is a [premarket approval] PMA in disguise carried out on a case-by-case basis and will deal a blow to patient access and medical device innovation in Europe.“

Read more

Why we should publish the unpublished in medical research

In our previous blog post, we talked about the changes in medical science publishing over the past 20 years that led to the rise of open access journals. Here we talk to, Alessandro Diana, a paediatrician at University Hospital of Geneva, Switzerland, and founder of the novel online journal Unpublished Articles in Science (UNAIS). Read more

The new Dutch hip classification system (NOV): Implications for industry, hospitals and clinical research

During the last few years governmental bodies and healthcare associations are introducing methods and guidelines for comparing medical devices. One intriguing classification system with far-reaching consequences for the industry, funding bodies, hospitals and clinical research has recently been introduced by the Dutch Orthopaedic Association (NOV). [1] Read more

We are now members of the European Medical Writing Association!

Medicalwriters.com is proud to announce that we have become members of the European Medical Writing Association (EMWA). The EMWA is a network of professional medical writers and medical writing services providers that represents, supports and trains medical communications in Europe. Read more