The genome e-volution.
Date: 2020-04-07
Institutions: European Investment Bank
Subjects: AIDS, disease prevention, epidemic, health risk, health service, medical diagnosis, nanotechnology, public health, therapeutics

THE GENOME 
e-VOLUTION
Ivan Đikić 

B I G  I D E A S 

THE GENOME e-VOLUTION
Ivan Đikić

eib.org/bigideas

The genome e-volution 
© European Investment Bank, 2020.
All rights reserved.

All questions on rights and licensing should be addressed to publications@eib.org

Photos: © Getty Images, Shutterstock. All rights reserved.

Authorisation to reproduce or use these photos must be requested directly from  
the copyright holder.

The findings, interpretations and conclusions are those of the authors  
and do not necessarily reflect the views of the European Investment Bank.

This essay is available as eBook on Apple Books, Kindle, Kobo and at eib.org/bigideas

QH-03-20-217-EN-N ISBN 978-92-861-4673-2 doi: 10.2867/7

pdf:
eBook: QH-03-20-217-EN-E

ISBN 978-92-861-4679-4 doi: 10.2867/649501

BIG IDEAS

“We have made great progress, but we are still vulnerable and our common 
commitment to fight global health challenges is not yet strong enough. Despite 
our knowledge, despite new technologies, without concentrated and global 
efforts we are limited in our success. Today we see it clearly.”

The sequencing of the human genome at the beginning of this millennium 
marked a new era in biomedicine. Nanotechnology and robotics have created 
innovative tools and powerful diagnostic techniques. Major therapeutic advances 
have enabled us to control HIV, and more tailor-made therapies are being 
implemented to treat cancer. Nonetheless huge challenges remain, not only in 
the field of cancer, but also with respect to neurodegenerative and other diseases.

At the same time, international travel and mobility, as well as globalised trade, are 
affecting our living conditions and promoting the spread of infectious diseases 
and new viruses, like the COVID-19 coronavirus, all over the world.

The Croatian physician and scientist Ivan Đikić analyses the challenges of 
contemporary medical research, the emerging threats, like pandemics, and the 
role played by health systems. 

This is the twelfth essay in the Big Ideas series created by the European 
Investment Bank.

The EIB has invited international thought leaders to write about the most 
important issues of the day. These essays are a reminder that we need new 
thinking to protect the environment, promote equality and improve people’s 
lives around the globe.

|  3 

THE GENOME e-VOLUTIONTHE GENOME e-VOLUTION

  The current pandemic caused 

The sequencing of the human genome at the beginning of this millennium 
marked a new era in biomedicine. Genome sequencing has become so fast 
and cheap that it can be routinely applied to individual patients leading to 
the identification of genetic variants that are on the one hand key drivers for 
disease development, and on the other hand the cause for differential response 
to therapies. Moreover, nanotechnology and robotics have created innovative 
therapeutic tools and powerful 
diagnostic techniques, such as 
the analysis of all human proteins 
(proteomics) and the processing 
of high-resolution imaging 
data for patient tissues that 
help diagnosis significantly by 
reliably detecting the first signs 
of disease. These technologies 
look at various aspects of disease 
changes over time and provide 
a more holistic picture of a 
patient’s individual state. As a 
consequence of technological 
advances  and  the  genome 
evolution in medicine, we can 
now provide better-tailored diagnostics, increased therapeutic efficacy 
and reduced side effects to an individual patient. Such “precision medicine” 
approaches promote advances in healthcare and prolong lifespan in the 
general population.

by COVID-19 provides a bitter 
example of how vulnerable 
our systems are. In addition to 
unforeseeable threats from newly 
emerging viruses, changing 
demographics, especially with 
respect to urbanisation, an 
ageing population, societal 
developments, and untreatable 
neurodegenerative diseases all 
pose pressing concerns in Europe.

|  5 

THE GENOME e-VOLUTION 
TAU PROTEIN IN ALZHEIMER’S DISEASE

6   |

Despite these achievements, significant health challenges remain, and the current 
pandemic caused by COVID-19 provides a bitter example of how vulnerable our 
systems are. In addition to unforeseeable threats from newly emerging viruses, 
changing demographics, especially with respect to urbanisation, an ageing 
population, societal developments, and untreatable neurodegenerative diseases 
all pose pressing concerns in Europe. Meanwhile, growing professional demands, 
chronic work stress, and the spread of new types of diseases through globalisation 
compound the situation. In view of these and other challenges, advancing health 
continues to be one of the most important challenges of modern societies.  

The European Union and its Member States consider health to be among their 
top priorities. Through the EU Health Programme, Member States are trying to 
further reinforce health systems and enhance programmes aimed at educating 
citizens to form stronger and knowledge-based communities. This essay reflects 
on the scientific and technological advances that are providing new therapeutic 
opportunities for major human diseases and for securing health in Europe and 
around the globe.

|  7 

8   |

LIFESTYLE AND CLIMATE CHANGE  IS THREATENING  OUR HEALTHLIFESTYLE AND CLIMATE CHANGE IS 
THREATENING OUR HEALTH  

Noncommunicable diseases (NCDs) such as diabetes, cardiovascular diseases 
and cancer are the leading cause of death worldwide. Together with chronic 
respiratory and mental disorders, they account for an estimated 86% of deaths 
and are responsible for 77% of the disease burden in Europe[1]. For most of these 
conditions, a healthy lifestyle could dramatically reduce the number of premature 
deaths. Refraining from tobacco and alcohol abuse, adhering to a healthy diet 
and regular physical activity are just a few examples. The success of prevention 
campaigns is best documented in the reduction of lung cancer rates following 
the first anti-tobacco campaigns and advertisement bans in the 1970s. Most NCDs 
are chronic in their course, which – in combination with an ageing population – 
leads to an increasing burden on healthcare systems. 

Moreover, increased international 
travel and mobility, globalised trade 
(especially in food) together with 
climate change and environmental 
pollution  are  af fec ting  living 
conditions  and  promoting  the 
spread of infectious diseases. Among 
infectious diseases, influenza puts 
the biggest burden on our societies, 
followed by tuberculosis and HIV.[2] 
For example, common waves of 
influenza kill around 44 000 people 
every year in Europe. The apparent 
weakness of our current health 
systems in responding to emerging infections and pandemics – including and 
especially the current outbreak caused by the COVID-19 coronavirus, but also 
recent outbreaks of the Ebola and ZIKA viruses – is of serious concern. 

  Noncommunicable 
diseases (NCDs) such as 
diabetes, cardiovascular 
diseases and cancer are 
the leading cause of death 
worldwide. Together with 
chronic respiratory and mental 
disorders, they account for an 
estimated 86% of deaths and 
are responsible for 77% of  
the disease burden in Europe.

|  9 

LIFESTYLE AND CLIMATE CHANGE  IS THREATENING  OUR HEALTH10   |

While extreme weather conditions are already affecting the health and well-being 
of European residents, especially elderly people, climate change and its impact on 
ecosystems also changes the regional distribution of infectious diseases. Europe 
is expected to face more infections due to subtropical and tropical pathogens[3]. 
Regrettably, another major threat involves the formation of antibiotic-resistant 
bacteria and the re-emergence of 
viruses that were once defeated 
or considered almost defeated in 
Europe, including some of the most 
infectious known diseases, such as 
polio and measles. 

  While extreme weather 

conditions are already 
affecting the health and well-
being of European residents, 
especially elderly people, 
climate change and its impact 
on ecosystems also changes 
the regional distribution of 
infectious diseases.

|  11 

COVID-19 VIRUS

12   |

EMERGING  THREATSEMERGING THREATS

The recent outbreak of COVID-19 documents both the power and the limits of 
scientific progress. When a pneumonia of unknown cause started emerging 
in China at the end of December 2019, it was literally just a few days or weeks 
before the coronavirus was isolated, its full genetic sequence published and 
several molecular details known. We witnessed an unprecedented global effort 
of information sharing, not only involving scientists, but also publishing houses, 
governments and health authorities – and yet this could still not prevent COVID-19 
from turning into a pandemic. This is largely due to our globalised lifestyle, but 
also due to the fact that public health systems across the world were not unified 
in a global response to the expanding pandemic. People turn towards science 
at these critical moments, but scientific progress takes time – especially when 
it comes to the development of new vaccines and therapeutics. The current 
predictions are that the world 
scientific community will require 
at least another year to develop a 
safe and effective vaccine, which is 
likely to be the most efficient way 
of blocking the spread of the virus.

  This transformation is 

affecting a variety of age 
groups in different ways – from 
increasing social isolation, to 
sedentary lifestyle, depression, 
and miscommunication. 

In  the  light  of  the  COVID-19 
pandemic, it is even more ironic 
that opposition to vaccination poses a major public health threat in European 
societies. Unfortunately, for several virus-borne diseases, the proportion of people 
being vaccinated is no longer sufficient to provide protection. We are witnessing 
a comeback of severe outbreaks of measles and other transmittable diseases, for 
which safe and effective vaccines are available. Measles is one of the world’s most 
contagious infections, and can lead to serious, fatal complications in children. 
While fatalities may be low in Europe compared to developing countries, numbers 
have been continuously rising in recent years[4]. Both scientists and the media are 
partly responsible for the growing opposition to vaccines. While the false claim 
about a link between certain vaccines and autism made headlines worldwide, 
scientific research disproving the connection took too long to materialise and 
failed to resonate. In addition, science in this case did not manage to self-correct 

|  13 

EMERGING  THREATSFOMO  SYNDROME  (FEAR  OF  MISSING  OUT)  AND 
NOMOPHOBIA  (SHORT  FOR “NO -MOBILE-PHONE 
PHOBIA”) ARE TWO EMERGING DISORDERS CAUSED BY 
DIGITALISATION

14   |

efficiently, as it ultimately took 12 years to 
retract the flawed paper from the prominent 
medical journal The Lancet, a vacuum into 
which the vaccine doubters were rapidly 
spreading.

  This transformation 

is affecting a variety of 
age groups in different 
ways – from increasing 
social isolation, to a 
sedentary lifestyle, 
depression, and 
miscommunication. 

On top of these existing challenges comes 
another: the digital transformation of society. 
This transformation is affecting a variety 
of age groups in different ways – from 
increasing social isolation, to a sedentary 
lifestyle, depression, and miscommunication. The digitalisation of society is 
leading to new types of disorders, such as FOMO syndrome (Fear of Missing 
Out) and Nomophobia (short for “no-mobile-phone phobia”). The World Health 
Organization (WHO) declared gaming disorder a disease in 2018. Younger 
generations’ use of existing and new technologies will have a long-lasting impact 
on their physical and mental health. 

|  15 

MACHINE LEARNING FOR NEW 
THERAPIES

New technologies provide a positive impact for health challenges. They 
allow for faster, more precise diagnosis of many diseases, enabling treatment 
to start sooner. Thanks to the “omics” technology revolution[5], access to the 
relevant data in a patient is no longer a bottleneck. Rather, it is the integration 
and interpretation of data that present the greatest challenge. In this context, 
computational sciences and artificial intelligence (AI) are beacons of hope. 
Machine-learning algorithms are at an advanced stage: they can help to both 
develop new therapeutic strategies based on data integration and interpretation, 
and monitor patient response to therapies. For example, single-cell sequencing, 
genome comparison (between individuals or during the course of a disease), 
digital imaging and clinical proteomics[6] are 
currently used to detect unique lung diseases 
or specific breast cancer cells. Based on imaging 
data, AI systems are already able to diagnose 
diseases as reliably as – if not better than – a 
medical doctor. Only a few years ago this was 
implausible to many experts.

While big pharma’s work with AI is still at an 
early stage, a rising number of startups are 
moving machine learning further onto the 
drug discovery stage. In 2017, the BenchSci 
Blog[7] identified 37 startup companies using 
AI to create new drugs. In 2019, the number 
increased to 177. Together, these companies have 62 drugs in their pipelines, with 
a few being advanced to late-stage clinical trials. Besides helping to design new 
molecules for targeted therapies, AI should help boost the systematic repurposing 
of existing drugs for new therapies.

  Machine-learning 
algorithms are at 
an advanced stage: 
they can help to both 
develop new therapeutic 
strategies based 
on data integration 
and interpretation, 
and monitor patient 
response to therapies.

16   |

LONG-TERM COMMITMENT TO BASIC 
SCIENCE – THE EXAMPLE OF HIV

The history of HIV is a prime example of how public health has advanced through 
basic science and modern technologies. At the same time, it also tells the story 
of how scientific progress may take decades to succeed, and how endurance 
pays off in the end. AIDS emerged as a pandemic in the early 1980s. A few years 
later, the HIV virus was identified by a team 
of scientists at the Pasteur Institute in Paris. 
That discovery enabled the development of 
the first commercial HIV test by 1985. The 
knowledge of the nature of the HIV infection 
gave rise to global prevention campaigns, 
which together with viral tests limited the 
spread of the disease.

of the limits of science, 
the history of HIV/AIDS is 
also one of the inequalities 
of access to healthcare 
globally.

  Besides being a tale 

The first anti-HIV treatment, azidothymidine, is a repurposed drug which 
had originally been developed as a potential cancer treatment. It decreases 
opportunistic infections in HIV patients and thus AIDS-related deaths. While 
it ameliorates the symptoms and lethality of AIDS, it cannot purge the virus 
from patients; on the contrary, therapy-resistant viruses started to emerge very 
rapidly. Despite boasting announcements, and heavy financial investment into 
research, it took almost another decade before the United States Food and Drug 
Administration (FDA) approved the first tailored inhibitors of other critical HIV 
enzymes in 1995. More efficient drugs soon followed, and it turned out that HIV 
can be controlled and reduced below detection level by a combination therapy 
with several drugs. Besides being a tale of the limits of science, the history of 
HIV/AIDS is also one of the inequalities of access to healthcare globally. While 
AIDS-related deaths have decreased by more than 55% since their 2004 peak, 
rates for new infections are still increasing in some countries and pose particular 
difficulties in Africa, with 25.7 million people living with HIV in Africa, 2.4 million 
in Europe, and 37.9 million worldwide[8].

|  17 

PROTEIN CLUSTERS

EVERY DISEASE 
IS DIFFERENT

18   |

EVERY DISEASE IS DIFFERENT 

In the first two decades of this century, we gained a basic understanding of how 
genetic variation relates to symptoms in a set of common diseases, an effort 
heavily supported by European funding organisations and charities such as the 
Wellcome Trust, which is one of UK’s largest charitable foundations funding 
health-related research[9]. However, translating this wealth of knowledge into 
improved diagnostics, new drugs and treatments has only just begun. 

The function of large parts of the genome are still entirely unclear, including 
the majority of the genome that does not contain gene coding for proteins and 
which was long thought to be evolutionary “baggage”. We know which genetic 
variations cause the development of human disease – often these are single base 
changes called single nucleotide polymorphism (SNPs) – but in most cases we 
do not understand how a specific variation alters normal function. Nor do we 
understand the influence of the many other genetic variations individuals are likely 
to carry, or their interplay with lifestyle and environmental factors. Uncovering 
the molecular mechanisms at work and understanding their regulation and 
interactions in differing contexts will reveal differences between patients and 
will lay the foundation for therapeutic strategies for individual patients.

|  19 

WILL 
ALGORITHMS 
FIGHT CANCER?

20   |

WILL ALGORITHMS FIGHT CANCER?

  Cancer patients are 

For humans, developing cancer is a multi-step process characterised by genetic 
instability and cellular changes, which are driven by the random and unpredictable 
nature of accelerated evolution. Cancer is not a single disease, but a unique 
set of genetic or molecular change that drives the uncontrolled proliferation 
of specific cells that ultimately leads to physiological malfunction. As a result, 
there are thousands of different types of transformed cells within a tumour, 
thus complicating treatment. Despite these sobering characteristics, we have 
gone a long way in improving the treatment 
of tumours over the last few decades. Until 
now, cancer patients have usually been treated 
with powerful inhibitors of cellular growth. 
This approach is called chemotherapy and 
usually has dramatic side effects as all cell 
growth in the body is affected. Indeed, these 
therapies are so invasive and unspecific that 
cancer patients are by now probably the 
greatest beneficiaries of the molecular 
biology revolution. Scientific breakthroughs 
resulting from insights into the molecular 
mechanisms underlying cancer development 
have revolutionised therapeutic treatments. 
While conventional treatments, such as radiotherapy and chemotherapy, continue 
to play a central role with their ability to kill cancer cells, they now tend to be 
combined with more targeted approaches, most recently with successful immune 
therapies. In addition, diagnosis has taken a quantum leap, based on monitoring 
biomarkers in the blood or genetic testing for relevant mutations, enabling an 
early identification of people at risk, or already affected, and determining the 
exact tumour type. Many cancers are treatable at an early stage, and therefore 
early diagnosis promises to have the largest near-term impact on patient survival.

by now probably the 
greatest beneficiaries of 
the molecular biology 
revolution , diagnosis 
has taken a quantum 
leap, enabling an early 
identification of people 
at risk, and determining 
the exact tumour type.

|  21 

MDM2 (MOUSE DOUBLE MINUTE 2 HOMOLOG, ALSO 
KNOWN AS E3 UBIQUITIN-PROTEIN LIGASE) BOUND TO 
P53, ALSO KNOWN AS TP53 OR TUMOUR PROTEIN. IN A 
NORMAL CELL, P53 IS INACTIVATED BY MDM2. UPON DNA 
DAMAGE, INCREASED DISSOCIATION OF P53 AND MDM2 
CAN LEAD TO CANCER

22   |

Targeted tumour treatments initially started with the inhibition of specific onco-
proteins involved in controlling cellular growth. Drugs included monoclonal 
antibodies[10] that block growth receptors on the surface of cancer cells. A 
prominent example is trastuzumab (Herceptin®), the first approved molecularly 
targeted drug for HER2-positive breast cancer. 

Other drugs include small chemical compounds that disrupt the oncogenic 
signalling initiated by those receptors. One example is vemurafenib (Zelboraf®), 
the chemical inhibitor of the growth-signalling molecule B-Raf. It is used for 
melanoma patients displaying a characteristic mutation in the B-Raf gene leading 
to uncontrolled cellular growth. There are currently more than 20 targeted 
therapies used in hospitals and these drugs have already helped millions of 
patients. Yet, the rapid development of tumour resistance to these therapies – 
usually within months of total apparent remission in patients – is a major problem. 
For this reason, attempts are made to use several variants of the original drugs, 
which are then supposed to be effective in the newly developed tumours that 
have become resistant to the initial agent. Moreover, a combination of two or 
more targeted therapies is increasingly used to maximise the efficiency of an 
anti-cancer treatment right from the start. 

|  23 

DENDRITIC CELL. DENDRITIC CELLS ARE A COMPONENT 
OF THE BODY’S IMMUNE SYSTEM. THEY ARE ANTIGEN-
PRESENTING CELLS (APCS), MEANING THAT THEY PRESENT 
PATHOGENS OR FOREIGN MOLECULES (ANTIGENS) TO 
OTHER CELLS OF THE IMMUNE SYSTEM TO BE ELIMINATED

PERSONALISED 
CANCER 
THERAPIES

24   |

PERSONALISED CANCER THERAPIES

Another boost in treatment comes from the field of immunotherapy, which aims 
to reprogram the patient’s immune system to identify and eradicate growing 
tumours. A new variety of drugs called checkpoint inhibitors turn immune cells 
into weapons that destroy tumour cells. A similar approach relies on a genetic 
modification of the patient’s immune cells, turning them into superweapons 
for finding and destroying tumour cells in the body. Immunotherapy and its 
molecularly targeted drugs are about to revolutionise the treatment of multiple 
cancer patients, with extremely positive data from ongoing clinical trials. 

  Immunotherapy 
aims to reprogram the 
patient’s immune system 
to identify and eradicate 
growing tumours. A 
genetic modification of 
the patient’s immune 
cells, turning them into 
superweapons for finding 
and destroying tumour 
cells in the body.

Despite these irrefutable achievements, 
the public is slow to appreciate the 
advances. One reason is that cancer, 
particularly when diagnosed at a late stage 
and already spread to other sites within 
the body, is still the second major cause of 
premature death. Unfortunately, tumours 
are extremely complex and diverse, hardly 
any two are alike, and identification of the 
most effective targeted therapy is still a 
major challenge. At the same time, tumour 
cells are genetically instable and prone to 
mutate, causing them to quickly change 
their composition during therapeutic 
treatment, which often results in resistance towards applied drugs. With healthcare 
moving at lightning speed towards personalised approaches, the next decade 
will see plenty of fundamental changes in cancer therapy, especially if cheaper 
technologies enable routine analyses of the full tumour genome and proteome. 

|  25 

T CELLS (A TYPE OF LYMPHOCYTE ORIGINATING IN THE 
THYMUS GLAND) ATTACKING CANCER CELLS

26   |

Personalised approaches in cancer therapy require significant investment in 
technologies for analysis, data integration and the development of new predictive 
algorithms. With increased knowledge of individual tumour mutation profiles, 
new targets will emerge and new drugs will be developed. Fortunately, the 
development of high-throughput screening (HTS)[11] technologies – such as the 
use of gene scissors CRISPR/Cas9) to change specific segments in the genetic 
code – has equipped us with powerful tools to identify tumour cell vulnerabilities, 
enabling us to better predict the susceptibility of a tumour to a given combination 
of drugs and potentially even to correct mutations in hereditable forms of cancer 
or other heritable diseases. 

These technologies also open the door to systematic efforts to repurpose already 
approved drugs by testing which combination might be effective against specific 
tumours. Such approaches have the potential to significantly reduce the long 
time to clinical application of novel therapeutic concepts. 

|  27 

THE WORLD IS 
GETTING OLDER

28   |

THE WORLD IS GETTING OLDER

The number of people above 60 is expected to double by 2050, reaching around 
2.1 billion people worldwide. This increase is most pronounced in Japan and 
the European Union[12]. An ageing population brings another challenge to 
the forefront of medicine: neurodegenerative diseases such as Alzheimer’s, 
Parkinson’s and dementia. Patients with these diseases suffer from a progressive 
destruction of nerve cells in the brain and/or spinal cord, leading to impaired 
movement coordination, mental dysfunctions, or both. It is foreseeable that 
neurodegenerative diseases will culminate in a healthcare crisis by the middle 
of the 21st century, with Alzheimer’s having the biggest impact. By 2050, the 
number of patients suffering from these disorders is estimated to more than 
triple, placing a significant burden on affected families, public healthcare and 
entire societies. 

  Neurodegenerative 
diseases will culminate 
in a healthcare crisis 
by the middle of the 
21st century, with 
Alzheimer’s having  
the biggest impact.

Neuronal degeneration is mostly caused by the 
accumulation of dangerous deposits – often 
clumped-together proteins – and damage 
to the functional units within the cells, so-
called organelles (mitochondria, endoplasmic 
reticulum, lysosomes) of long-living neurons. 
These developments lead to slow, progressive 
damage and eventually the death of specific 
groups of neurons in the brain. Based on this 
knowledge, scientists now aim to identify very early events in the development 
of neurodegeneration that can be inhibited before the damage accumulates and 
causes a massive loss of neurons. Obviously, this is a tricky situation, as therapies 
– to be successful – may have to start 10 to 20 years before the first symptoms 
appear, at the time when deposits first start accumulating in neurons. Currently, 
we lack non-invasive diagnostic tools to detect this stage, for example by mass 
screening the whole population. Once neurons have started dying, stopping the 
domino effect of disease is much less likely. For example, approximately 80% of 
dopaminergic neurons (neurons that synthesise the neurotransmitter dopamine, 
which is required for the healthy functioning of the nervous system) begin to 
atrophy before first clinical symptoms of Parkinson’s disease appear, indicating 

|  29 

HUMAN BRAIN REPRODUCED BY 3D COMPUTER GRAPHICS

30   |

that there is a long therapeutic time window. Similarly, in Alzheimer’s disease, 
damage within hippocampal neurons, which are critical for memory connections, 
often accumulates for many years before the nerve cells lose their functions.

So far, none of the aforementioned neurodegenerative diseases is curable and 
treatment has only dealt with the late-stage symptoms, delaying progression 
of the disease at best. Multiple reasons exist for this. First, we have to consider 
the incredible complexity of the human brain. It has about 86 billion neurons, 
each having about 7 000 synaptic connections to other neurons. Secondly, the 
non-dividing, long-lived nature of neurons make them prone to accumulation 
of damage during their lifetime. Thirdly, the brain is a secluded organ, difficult 
to approach for diagnostics or to administer conventional drugs. Altogether, 
targeting neurodegenerative diseases is one the greatest challenges in 
biomedicine today.

  Targeting 
neurodegenerative 
diseases is one the 
greatest challenges  
in biomedicine today.

Until now, most drug development for neuronal degeneration has focused on 
using chemical compounds, antibodies, nucleic 
acids or proteins able to prevent and possibly 
reverse the build-up of the proteins that can cause 
the disease, such as synuclein for Parkinson’s and 
amyloids for Alzheimer’s. However, all attempts 
to target aggregation-prone proteins with the 
above-mentioned therapies have so far fallen 
short of expectations. More recently, attention 
has been focused on the cells’ own quality control systems, which are responsible 
for removing any dangerous deposits or damaged organelles. Defects in those 
cellular control systems may contribute to or even cause neurodegeneration. 
At the same time, boosting the performance of those internal mechanisms may 
have a protective effect. One of those is autophagy, which enables cells to remove 
damaged or dangerous material from our body. Novel innovative approaches 
try to flag dangerous components and target the autophagic waste machinery 
for their removal. 

|  31 

IN THE FUTURE, CARE AND HEALTH IN HOSPITALS WILL 
RELY SIGNIFICANTLY ON THE INTERACTION BETWEEN 
DOCTORS AND ROBOTS

WHAT’S NEXT

32   |

WHAT’S NEXT

The digital revolution has already made a big impact on patient care, starting 
with the wealth of (not always medically verified) information available online and 
mobile apps that can record and share health-related data with remote doctors 
(part of a wider trend towards the remote monitoring of patients). With the ability 
to rapidly and affordably sequence the whole human genome, tailoring therapies 
to a patient’s genetic background is finally within reach. 

  CRISPR/Cas9 technology 

enables extremely precise, 
rapid and cost-effective 
intervention in the genetic 
material of living organisms.

The unprecedented opportunities 
presented by super-computing, machine 
learning and AI go hand-in-hand with 
ethical concerns and profound fears for 
the future of medicine. Nowhere is this 
as apparent as in the field of genetic 
engineering. The revolutionary CRISPR/
Cas9 technology[13] enables extremely precise, rapid and cost-effective intervention 
in the genetic material of living organisms. This technique not only offers amazing 
opportunities in ecology and food production, but also in the discovery of the causes 
of diseases and the development of new therapies to treat human disorders. The 
technology, however, can also be (mis)used to generate genetically modified or 
“optimised” human beings. Furthermore, it remains unclear if the method really 
has no off-target effects on the genome in all cases, which could cause undesired, 
heritable consequences in patients undergoing gene therapy.

The CRISPR/Cas9 system was first applied as a tool for genetic engineering in 2012. 
Six years later, the birth of potentially HIV-resistant genetically modified babies 
was reported in China and highly criticised around the world for ignoring well-
established international norms in research ethics. The scientist behind these efforts 
was recently sentenced to three years in prison for violating research integrity law 
in China[14]. Germline genetic modification, or the process of genetically modifying 
sperm or egg cells for the purpose of reproduction, is forbidden in 16 of the European 
Union’s 27 Member States. European researchers have traditionally been among 
the first to voice concerns about the dangers and ethical implications of genetic 
engineering for therapeutic purposes, and the problems posed by the large-scale 
access to and use of genomic data. However, in a globalised world neither technical 
breakthroughs nor the consequences of misuse can be limited to national borders. 

|  33 

DESTRUCTION OF HUMAN IMMUNODEFICIENCY VIRUS (HIV)

INNOVATIVE 
THERAPIES 
AND SOCIETAL 
CHALLENGES

34   |

INNOVATIVE THERAPIES AND SOCIETAL 
CHALLENGES

Besides the concerns related to gene therapy and the potential misuse of individual 
genetic data, for example by insurance companies or digital firms, scientific and 
technological breakthroughs pose other ethical challenges. Many of the innovative 
treatments come with skyrocketing costs, 
putting an additional strain on limited 
healthcare budgets and raising questions of 
the accessibility of high-level, individual care 
and of inequalities in the healthcare system. 

There is also a clear medical need to invest 
more in rare disease research, which is 
largely neglected by the pharma industry. 
When innovative treatments for rare diseases 
are developed, they often come with an 
astronomical price tag. High prices are only partially the result of a small market for 
such treatments. Uniqueness, rather than demand, often dictates pricing, and only 
regulations can solve the issue. 

  Is it justifiable to cover 
treatment costs for a single 
patient while the same 
amount of money could 
be used to cure hundreds 
of people suffering from 
other diseases? 

With tailored therapies for common diseases being introduced on a broad scale, 
physicians will more frequently have to ask themselves: is it justifiable to cover 
treatment costs for a single patient while the same amount of money could be used 
to cure hundreds of people suffering from other diseases? Should this treatment 
be covered by the public health system or should it be funded privately? To give an 
example, current cancer therapies with genetically modified patient cells discussed 
earlier in this article cost several hundred thousand euros. However, to efficiently 
target the unique personal circumstances leading to a disease, and to provide the 
needed benefit to patients while at the same time decreasing the unwanted effects, 
individual therapy treatment is a must. We will have to debate how to overcome the 
financial hurdles. A similar debate arose around the high cost of treating new chronic 
diseases that were previously fatal and now require lifelong treatment with expensive 
medication, such as HIV infection, which can now be controlled by a combination 
of drugs. And while these developments force us to face some extremely difficult 
questions, the much more pressing issue of how to ensure acceptable healthcare 
standards and accessibility worldwide has not even been touched on.

|  35 

DNA SEQUENCING

OPEN-ACCESS 
SCIENCE

36   |

OPEN-ACCESS SCIENCE 

Is there a solution to control high healthcare costs? Sustainable healthcare 
systems could be built on a few key concepts: high standards, fair pricing, efficient 
organisation, open science, a well-informed public and a well-educated professional 
community. 

From an academic point of view, open-
access to scientific research will significantly 
decrease the price of drugs and should be 
mandatory for publicly funded research. The 
International Human Genome Sequencing 
Consortium, which pulled together forces 
from around the world, played a pioneering 
role in making a full genome sequence 
publicly available. Since then, many publicly 
funded, large-scale biomedical projects have 
followed in the Consortium’s footsteps, with 
growing amounts of data being shared in 
easily accessible databases. Fund providers and policymakers within the European 
Union, such as European Commission-funded research and charitable foundations, 
have championed open science policies. 

  Fund providers and 
policymakers within the 
European Union, such as 
European Commission-
funded research and 
charitable foundations,  
have championed open 
science policies. 

Despite these efforts, drug development and pricing for new treatments is still 
dominated by manufacturers, who in turn use publicly funded scientific research. 
A new era, however, may be dawning. More public-private partnerships such 
as the Structural Genomics Consortium have emerged, where scientists from 
academia and industry work together to discover new medicines through open-
access research. Their research record has already proven that open science is 
successful and can have a sustainable impact on drug development, education 
and societies. Moreover, new funding models for integrative academic-industrial 
research and the use of cutting-edge technologies are needed as the current classical 
approaches for the development of new drugs, new antibiotics, tailored therapies 
and neurodegenerative diseases are not sufficient. A concerted effort similar to the 
Human Genome Project will be necessary to generate the tools and technologies 
to explore all proteins in the human proteome, and to manipulate those involved 
in disease pathways. 

|  37 

AUGMENTED REALITY GLASSES ENABLE PHYSICIANS TO 
INCLUDE DATA VISUALISATION IN TREATMENT PROCEDURES

SHARING 
RESPONSIBILITIES  
FOR THE FUTURE

38   |

SHARING RESPONSIBILITIES FOR THE 
FUTURE

Changing the culture of drug research from a pharma-driven process to disease-
focused, personalised treatments will eliminate often-futile research cycles and 
decrease the cost of drug development. The European Union could save at least 
€10.2 billion a year if FAIR (findable, accessible, interoperable, reusable) data 
principles were fully implemented[15]. The research dilemma cannot be solved by 
scientists and clinicians alone, but rather will need to involve insurance companies, 
government, the pharma industry and the public. 

Ensuring fair access to high quality 
healthcare will depend on our ability to 
offer the most efficient therapies and care 
to all patients, regardless of the ailment. 
Advances in science and technology may 
drive progress in medicine and healthcare, 
but only shared responsibilities and 
common policies around the globe will 
make it possible.

  The European 
Union could save at 
least €10.2 billion a 
year if FAIR (findable, 
accessible, interoperable, 
reusable) data principles 
were fully implemented.

|  39 

Notes

[1] 

 http://www.euro.who.int/en/health-topics/noncommunicable-diseases

[2] 

 https://www.eurosurveillance.org/content/10.2807/1560-7917.ES.2018.23.16.17-00454#ab-
stract_content

[3] 

 FEMS Microbiol Lett. 2018 Feb 1;365(2). doi: 10.1093/femsle/fnx244.

[4] 

 EMBO Mol Med 2018 10:e9176. https://doi.org/10.15252/emmm.201809176; 

https://www.who.int/csr/don/06-may-2019-measles-euro/en/

[5] 

 Omics refers to the collective technologies used to characterise and quantify pools of 
biological molecules and to explore their roles, relationships and actions in the cells of a 
living creature. https://www.genomicseducation.hee.nhs.uk/blog/the-omics-revolution/

[6] 

 The proteome is the entire set of proteins that is, or can be, expressed by a genome, cell, 
tissue, or organism at a certain time (Wikipedia).

[7] 

 https://blog.benchsci.com/

[8] 

 https://www.who.int/hiv/en/

[9] 

 https://wellcome.ac.uk/

[10]   Monoclonal antibodies (mAb or moAb) are antibodies that are made by identical immune 

cells that are all clones of a unique parent cell (Wikipedia).

[11]   High-throughput screening (HTS) is a method for scientific experimentation especially 

used in drug discovery and relevant to the fields of biology and chemistry. Using robotics, 
data processing/control software, liquid handling devices, and sensitive detectors, 
high-throughput screening enables a researcher to quickly conduct millions of chemical, 
genetic, or pharmacological test.  
https://en.wikipedia.org/wiki/High-throughput_screening

[12]   https://www.un.org/en/development/desa/population/publications/pdf/ageing/

WPA2017_Highlights.pdf

[13]   Simply put, the technology involves the injection of new genetic information into cells, 
coding for gene scissor Cas, which then enables the precise cutting of DNA at a specific 
site which can be pre-determined. This can be used to modify the genetic code, e.g. to 
change the function of genes or eliminate dangerous mutations. 

[14]   https://www.scientificamerican.com/article/crispr-babies-scientist-sentenced-to-3-years-in-

prison/

[15]  https://ec.europa.eu/research/openscience/index.cfm

40   |

|  41 

BIOGRAPHY

Ivan Đikić was born in Zagreb in 1966. He is a leading expert in the fields of 
ubiquitin biology and cancer research, and is a professor at Goethe University 
Frankfurt and a fellow of Max Planck Society. He maintains an active research lab 
that enables multidisciplinary teams of scientists to study the molecular principles 
of life and discover pathological alterations that lead to the development of 
human diseases such as cancer, neurodegeneration and infection.

Ivan has received numerous awards for his scientific work, including the Ernst 
Jung Prize for Medicine and the Gottfried Wilhelm Leibniz Prize, the highest 
scientific honour in Germany. He is an elected member of the German Academy 
Leopoldina and the European Academy, as well as an honorary member of the 
American Academy of Arts and Sciences.

Ivan Đikić is committed to the education of future generations of scientists 
across the world. His efforts to popularise science among the public have been 
recognised with the highest civilian state honour, The Order of Duke Branimir, 
bestowed by the President of Croatia.

42   |

|  43 

years

N
E

0
2
0
2
/
4
0