The interviews we conducted with professionals and academics were essential in guiding us towards developing in human practices plan. They lead us to our creation of various materials and workshops to not only help those with rare genetic diseases, but to ease concerns about gene therapy and encourage a culture of bioethics. Furthermore, they were crucial in shaping the specifics of our wet lab and dry lab as well to ensure that our project was safe and impactful in a positive way.

Professor Heinz Jungbluth:

We had a chance to meet Prof. Jungbluth who works on neuromuscular disorders at Evelina hospital. He talked about different treatments available for these disorders. For example, currently they can be treated using steroids to slow down the muscle weakening. Also, the professor brought up the use of gene therapy, especially viral vectors. One of AAV was successful in treatment of myotubular myopathy in model organisms, such as mice and Labradors. Myotubular myopathy causes muscle weakening throughout the whole body and eventually – respiratory failure. The disease is caused by loss-of-function mutation of MTM1 gene coding for myotubularin. The gene is relatively small and is under 4kb so viral vector can be used for its transfer. However, the most popular neuromuscular disorders, such as Duchenne muscular dystrophy, require transfer of dystrophin which is more than 200kb. This cannot be treated with viral vectors due to the gene size limit i.e. a different delivery system must be adopted. The interview inspired us to work on increasing the capacity of viral vectors.

Dr Brenda Williams:

Dr Brenda Williams is the Senior Lecturer in Experimental Neuropathology Education at King’s College London. Interviewing Dr Brenda Williams allowed us to examine current therapies into Batten’s disease, which is an example of a rare genetic disease. Firstly, she explained Batten’s disease itself and how it how it affects individuals who have this rare condition. She described the difficulties in treating this disease as it primarily neurodegenerative. Furthermore, she discussed the current use of viral vectors in treating this disease, and explained that specificity rather than size was the issue. Additionally, we discussed the issue of screening versus treatment in the case of rare genetic diseases, and she said that it is crucial that we develop both of these to improve and better the lives of not only those with rare genetic diseases but their families as well. As a consequence, we decided to incorporate screening into our project as well but campaigning and promoting a prenatal testing charter from the Genetic Alliance.

Dr Frances Butcher:

Dr Frances Butcher is part of the faculty at the Oxford School of Public Health. She has completed her medical degree at Brighton and Sussex Medical School she is also the winner of the 2018 Next Gen for Biosecurity Competition alongside her colleagues, and a 2019 Fellow on the John Hopkins Emerging Leaders in Biosecurity scheme.

Over the course of the interview with Dr Butcher, she highlighted many aspects of biosecurity we were not initially aware of relating to the wider effect our project could potentially have on the future. She also raised the point that there isn't a singular biosecurity standard that all countries are upheld to, indicating that if your country prohibits certain research it invites researchers to carry out their work in another country where the regulations are more relaxed. This point was highlighted by a former iGEM team leader, Dr He Jiankui, who shocked the public with his research in which he produced the world’s first designer babies resistant to HIV. Consequently, she confirmed that it is crucial to foster an international understanding of biosafety and biosecurity early on, to compensate for the rate at which science is progressing and the inability of policy to keep up with it. It is essential to do this as early on as possible, so young scientists enter industry and academia with a predisposition to carrying out responsible research.

Through speaking to Dr Butcher, we were inspired by this interview and determined to measure what biosecurity is like in different countries and institutions, so we created a bio-security survey which we sent out to all teams across the globe competing in the iGEM competition. We did this to assess the differences in restrictions and regulations at the institutions and organizations of each country.

Dr Ian Mcfazdean and Dr Steve Thopmson:

Through speaking with Frances Butcher we were inspired to impact change closer to home at our own university. With our team a mixture of & 2nd and 3rd year students and some students who just finished their Bachelor's degree it was highlighted that if they didn’t take part in iGEM then their knowledge of biosecurity would remain severely limited. To mediate a solution to this problem we scheduled a meeting with the Dean of Bioscience Education to propose our plans to integrate some form of optional biosecurity and biosafety teaching for bioscience students.

During our meeting we presented the results of our biosecurity survey we conducted, and what we believe is a limitation to the bioscience courses at the university. Our proposal was to develop supporting online material for biosecurity with the end goal of informing students earlier on in their career decision process. We discussed the possibility of developing an eLearning guide to biosecurity for students undertaking research skills modules allowing them to begin thinking about the importance of these aspects of research that would normally be glossed over.

Rare Genetic Diseases & Screening:

Creating and promoting a genetic prenatal testing charter from the Genetic Alliance

Following our interview with Dr Brenda Williams, we were made aware of the importance of not only improving therapies for rare genetic disorders but increasing the success of screening techniques for rare genetic diseases. She also stressed the importance of screening for rare genetic diseases. Consequently, we wanted to incorporate this into our project.

Current measures to screen for rare genetic disorders include the newborn heel prick blood spot test, screening at birth allows for timely preparation and management of these conditions. However, the accuracy of these tests can vary with some positive results having only a 50% chance of being correct, 50% of these tests lead to false positive results. This can be devastating for families who may have been forced to make life altering decisions in response to the news. The current time to diagnose a rare genetic disorder is around 4 years during which they will see up to 5 different specialists and receive 3 different misdiagnoses.

A charter shared to screen newborns for rare genetic and undiagnosed conditions has been recently released by the non-profit Genetic Alliance with the all-party parliamentary group. This topic is very controversial, and we wanted to raise the public's awareness and entice them to engage more in this debate, so we created a poster summarizing the points taken from the proposal for the public to read and to get their attention to this topic.

Our efforts reached approximately 415 people of the general public, the impact of these people sharing this information with their family and friends would also raise awareness for prenatal screening for genetic conditions.

The charter we produced and shared across social media to promote.

Focusing in on Biosecurity:

Biosecurity Survey:

Biosecurity describes the methods and measures put in place to prevent unauthorised access, misuse, loss, intentional releases or exposure of biological materials from a lab (1). This is to prevent any potentially hazardous material from being taken and used to harm humans, animals, or agriculture. It is the responsibility of laboratories working with potentially hazardous materials, such as viruses, bacteria or toxins, to ensure that their work is not going to be abused for malicious purposes (1).

Following our interview on Biosecurity with Dr Frances Butcher, we were interested in asking how universities from around the world tackled biosecurity in their labs. So we sent out a short survey to several teams throughout the world, and were excited to receive so many responses. Here we analyse and discuss the responses to each of the questions, hoping to see how universities address and provide information on biosecurity.

The first question was ‘Does your university provide a compulsory module on biosecurity for biosciences students?’ Most answers to the question were between ‘Yes’ and ‘No’, with only a small amount responding differently. In fact, most (48.8%) of students say that their university does not have compulsory modules . Nevertheless, most of the ‘other’ responses seem to suggest that universities do still provide some level of awareness of biosecurity, meaning that the gap between ‘Yes’ and ‘No’ may be smaller than it appears. This result is interesting, because we expected ‘Yes’ to have a significantly greater majority, or at least more responses indicating some form of raising awareness, such as workshops and optional modules.

The second question was ‘Have you ever taken part in academic research/summer research project during your degree? If so, were you given a security form/information pack to provide information on any biosecurity risks from the project and steps taken to manage them?’ While the majority (68.3%) responded that they did receive information on biosecurity risks and management, we did not expect to see approximately 20% of students who attended a research project and were not informed on biosecurity risks. This means they did those projects unaware of the risks they would face and how to deal with them.

The third question was ‘On a scale of one to five, how accessible are your university’s safety and security policies?’ Most students thought of their university’s safety and security policy being fairly accessible. However, we were expecting to not see a single response saying that it was impossible/hard to access, instead hoping to see all answer being in the fairly/completely accessible category, but the fact is that about a quarter of responses implied that it is relatively hard to access the safety and security policies.

The final question was ‘On a scale of one to five, is your university proactive by promoting biological safety and security?’. The responses are much more interesting: while most (42.7%) stated that their university is very proactive, it is surprising to see that 50% responded in their university being fairly proactive, and 7.3% stated that their universities are not that active. Like before, we were hoping most answers to be in the 4/5 category, but this is a lot more concerning, as unlike the last question, more people seem to think that their universities are not very active in promoting biosecurity.

From these responses, we concluded that though universities do take steps to promote awareness of biosecurity, however they do not stress its importance as much as it should be. Questions 3 and 4 seem to support this in particular: while universities do have a fairly accessible safety and security policies, they do not actively promote them. This is further supported by the responses of question 1, which show that nearly half of the universities represented in the survey do not encourage their students to be aware of biosecurity. This is most likely due to the fact that universities need to have a safety and security policy as part of regulation, but they do not need to promote it. The consequences can be seen in question 2, where 20% of students involved in research projects did not receive any information on biosecurity. This can potentially be disastrous, as these students would not be aware of the potentially dangerous material they are working with, and resulting in possible lapses of security and potential threat to the safety of individuals.

We aim to create a culture where universities promote biosecurity not because of regulation, but in the interest of personal safety. We would like to ensure that all students are not only aware of the potential damage the materials they work with can cause, but can take steps towards preventing said damage from occurring.

Creating tools to supplement the A-Level curriculum:

After running interactive workshops and conversing with secondary school children and their teachers, we realised there was a gap in some of the high education curriculum that is often taught in schools. The A- level syllabus has compulsory content outlined in the specification and then a subsequent column of ‘opportunities for skills development’. The opportunities for skill development had a reduced set of resources available to teachers, meaning that students were not developing these skills. We identified that the possibility for the content within the developing skills section could be invaluable to students education in biology as well as in inspiring them to be captivated by such as exciting field.

We conducted a review of the AQA Biology A Level specification, the most popular exam board specification for students in England. The review highlighted areas where students could benefit from additional resources and this inspired our ideas for creating tools to give students ‘opportunities for skill development’. Throughout our iGEM journey, we have endeavored to share the new skills we have developed to give back to our community and we saw an opportunity to assist in the education and inspiration of school children. Our visits to the school had highlighted how receptive students were to learning by new means, such as through visual aids or interactive programs. Supplementing their curriculum in a unique way to how they are currently taught became our focus.

Our first tool created focused on the area of the specification that requires students to have a comprehensive understanding of ‘alterations of the sequence of bases in DNA can alter the structure of the proteins’, but gave no suggestion for opportunities for skill development. We applied our own wet lab experiments and experience to develop a presentation that used a visual laboratory example to teach students about mutations that change the protein. The workshop is a tool created to teach students about mutations, which is taught through the students first being educated about Green Florescent Protein (GFP). The students then acquire knowledge about GFP before being introduced to how the mutations and single base changes can result in GFP being mutated to fluoresces different colors. Through running our activities, we found that when students were challenged with learning new concepts, they were more receptive and engaged when introduced to applicable ways that their content is introduced in the lab. The presentation below is a copy of our tool shared with secondary schools to supplement their learning.

Our next tool aims to impart the skills that were developed for our dry lab section to the students and utilise our knowledge to further their skill set and compliment their development of skills, whilst cementing the essential content they need to learn for their course. Through the workshop tool, teachers are empowered to teach students to gain an understanding of the impact of mutations and their consequences on gene expression, to learn about modern experimental approaches used in this area of research (reporter gene constructs and modelling) and to understand how biological systems can be studied using computational approaches as well as to learn how to create simple computer programs for data analysis using Python. This facilitates the opportunity for skills development in the python, whilst complimenting their specification sections titled ‘gene expression is controlled by a number of features’.

The resources we have created have been shared with schools in our local community as well as further afield in England. We are continuing to hear positive feedback about the resources and we are thrilled to be helping secondary students develop their skills in this inspiring field.

References:

(1.) Mandal, Ananya. What is Biosecurity. News Medical. [Online] News Medical. [Cited: October 4, 2019.] https://www.news-medical.net/health/What-is-Biosecurity.aspx#targetText=Laboratory biosecurity involves responsibility for,or intentional release or exposure..

Team:KCL UK/Human Practices

Human Practices

Overview:

Our Human Practices Plan

Interviews: