Category Archives: Genetic Medicine

Chromosomes prepared from a malignant glioblastoma visualized by spectral karyotyping (SKY) reveal an enormous degree of chromosomal instability a hallmark of cancer. Credit: NCI Center for Cancer Research (CCR)

Mutations in 38 different types of cancer have been mapped by means of whole genome analysis by an international team of researchers from, amongst others, the University of Copenhagen, Aarhus University, Aarhus University Hospital, and Rigshospitalet. The researchers have compiled a catalog of the cancer mutations that will be available worldwide to doctors and researchers.

Globally, cancer is one of the biggest killers and in 2018, an estimated 9.6 million people died of the disease. In order to provide the best treatment for the disease, it is essential to find out which mutations are driving the cancer.

We have studied and analyzed the whole genome, and our analyses of mutations that are affecting cancer genes have enabled us to genetically explain 95 percent of the cancer occurrences we have studied by means of mutations. Joachim Weischenfeldt

In a major international collaboration called Pan-Cancer Analysis of Whole Genomes (PCAWG), researchers from the University of Copenhagen, Aarhus University, Aarhus University Hospital, and Rigshospitalet have helped to map mutations in 38 different types of cancer.

The mutations have all been combined into a sort of catalog. The catalog, which is already available online, allows doctors and researchers from all over the world to look things up, consult with and find information about the cancer of a given patient.

Most previous major studies have focused on the protein coding two percent of the genome. We have studied and analyzed the whole genome, and our analyses of mutations that are affecting cancer genes have enabled us to genetically explain 95 percent of the cancer occurrences we have studied by means of mutations, says co-author Joachim Weischenfeldt, Associate Professor at the Biotech Research & Innovation Centre, University of Copenhagen, and the Finsen Laboratory, Rigshospitalet.

So, if you know which mutations have caused cancer, the so-called driver mutations, you will be able to better tailor a treatment with the most suitable drugs or design new drugs against the cancer. Precision medicine is completely dependent on the mapping of driver mutations in each cancer, in relation to diagnosis, prognosis and improved treatment, says co-author Jakob Skou Pedersen, professor at Bioinformatics Research Centre and Department of Clinical Medicine, Aarhus University, and Aarhus University Hospital.

The new research results are published in a special edition of the scientific journal Nature with focus on PCAWG. To date, it is the largest whole genome study of primary cancer. This means that the analysis was performed based on material from the tissue in which the tumor originated and before the patient has received any treatment.

The researchers have mainly analyzed and had data on the most common types of cancer such as liver, breast, pancreas and prostate cancer. In total, they have analyzed whole genome-sequenced tumor samples from more than 2,600 patients.

Based on their analyses, they could see that the number of mutations in a cancer type varies a lot. Myeloid dysplasia and cancer in children have very few mutations, while there may be up to 100,000 mutations in lung cancer.

The infographic is an overview of the different cancer types studied in the Pan-Cancer Project. The lower part also lists the six cancer types (for men and women) for which the most samples were available. Credit: Rayne Zaayman-Gallant/EMBL

But even though the number of mutations spans widely, researchers could see that on average there were always 4-5 mutations that were driving the disease, the so-called drivers no matter what type of cancer it was.

It is quite surprising that almost all of them have the same number of driver mutations. However, it is consistent with theories that a cancerous tumor needs to change a certain number of mechanisms in the cell before things start to go wrong, says Jakob Skou Pedersen.

In the catalog, the researchers have divided the mutations into drivers and passengers. Driver mutations provide a growth benefit for the cancer, while passenger mutations cover all the others and are harmless. The vast majority of all mutations are passengers.

To store and process the vast amount of data, the research team has used so-called cloud computing, using 13 data centers spread across three continents. They have had centers in Europe, the US, and Asia.

The large data set has been necessary to establish what was common and unique to the different types of cancer. Today, cancer is divided according to the tissue in which the disease originates, for example breast, brain, and prostate.

The researchers found many things that were completely unique to each type of tissue. Conversely, they also found many common traits across the tissue types. According to Joachim Weischenfeldt, there is thus a need to rethink the way we think about cancer.

Cancer is a genetic disease, and the type of mutations is often more important than where the cancer originates in the body. This means that we need to think of cancer not just as a tissue-specific disease, but rather look at it based on genetics and the mutations it has.

For example, we may have a type of breast cancer and prostate cancer where the driver mutations are similar. This means that the patient with prostate cancer may benefit from the same treatment as the one you would give the breast cancer patient, because the two types share an important driver mutation, says Joachim Weischenfeldt.

Reference: Pan-cancer analysis of whole genomes by The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium, 5 February 2020, Nature.DOI: 10.1038/s41586-020-1969-6

The International Cancer Genome Research Consortium has been supported by national foundations, including Independent Research Fund Denmark.

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Massive Genetic Map of Cancer Mutations Cataloged Available to Doctors and Researchers Worldwide - SciTechDaily

Basel, 10 February 2020 - Roche (SIX: RO, ROG; OTCQX: RHHBY) today announced that the gantenerumab arm of the Phase II/III DIAN-TU-001 study did not meet its primary endpoint in people who have an early-onset, inherited form of Alzheimers disease (AD). This form of AD, known as autosomal dominant AD (ADAD), accounts for less than 1% of all cases of the disease.1 The study, sponsored by Washington University School of Medicine in St. Louis, US, did not show a significant slowing of the rate of cognitive decline in people treated with investigational medicine gantenerumab as measured by the novel DIAN Multivariate Cognitive Endpoint, compared with placebo. Overall, gantenerumab's safety profile in DIAN-TU-001 was consistent with that from other clinical trials of the investigational medicine and no new safety issues were identified.

Roche is conducting additional analyses to understand the totality of the gantenerumab data from the study, in collaboration with Washington University School of Medicine. Data will be presented at the AAT-AD/PD Focus meeting in April 2020.

We are very grateful to all those involved in this study and hope the data can further contribute to the science and collective understanding of this complex disease, said Levi Garraway, M.D., Ph.D., Roches Chief Medical Officer and Head of Global Product Development. Although DIAN-TU didnt reach its primary endpoint, the trial represents the first of its kind and a bold undertaking by all partners involved. Given its experimental nature, we are unable to draw firm conclusions about the impact of gantenerumab in autosomal-dominant Alzheimer's disease. This outcome does not reduce our confidence in the ongoing Phase III GRADUATE clinical programme.

Gantenerumab, a late-stage investigational medicine, continues to be studied in two large global Phase III studies (GRADUATE 1 and 2) in the broader population of people with AD that is not directly caused by gene mutations (sporadic AD). Every person with ADAD who received gantenerumab in DIAN-TU-001 started on a lower dose and only started titrating to a fivefold higher target dose approximately halfway through the trial, prompted by learnings from other studies of gantenerumab. The GRADUATE studies have been designed from the outset to maximise exposure to gantenerumab, bringing all patients to target dose with minimal or no dose interruption within the study period.

Roches AD pipeline spans investigational medicines for different targets, types and stages of AD. In addition to the gantenerumab programme, Roche is evaluating semorinemab in Phase II studies in sporadic AD. Crenezumab also continues to be studied in the Alzheimers Prevention Initiative Phase II trial in ADAD.

About the DIAN-TU-001 StudyDIAN-TU-001 is a Phase II/III study sponsored by Washington University School of Medicine in St. Louis, US. The study tested two investigational therapies compared to placebo (Roches gantenerumab and Eli Lillys solanezumab) to determine if either of these treatments could slow the rate of cognitive decline and improve disease-related biomarkers in people who are known to have a genetic mutation for inherited AD. The primary outcome measure for the study the DIAN Multivariate Cognitive Endpoint is a novel outcome measure designed to assess cognitive performance in people with ADAD.2,3

The study followed 194 participants for up to 7 years; the average was about 5 years. Fifty-two people were randomised to active gantenerumab in the study. All participants came from families that carry a genetic mutation that causes inherited AD. The small study included people who did not yet have symptoms of AD at the time of enrollment as well as people who already had mild symptoms of the disease. There are 24 study centres worldwide for DIAN-TU-001, across the US, Australia, Canada, France, Spain and the UK.2,3

In the DIAN-TU study, the most common adverse events reported more frequently with gantenerumab than placebo were injection-site reactions, infection of the nose and throat (nasopharyngitis), and amyloid-related imaging abnormalities (ARIA), manifesting as cerebral edema or microhemorrhages. The majority of ARIA findings were asymptomatic; if symptoms occurred, they were mild in nature and resolved.

About autosomal dominant Alzheimers diseaseAutosomal dominant AD (ADAD; also known as familial AD or dominantly-inherited AD [DIAD]) is a rare, inherited form of AD caused by single gene mutations in the APP, PSEN1 or PSEN2 genes.4 Less than 1% of all AD cases worldwide are thought to be caused by genetic mutations.1 It usually has a much earlier onset than the more common sporadic AD, with symptoms developing in people in their 30s to 60s.5 If an individual has one of these mutations, there is a 50% chance they will pass it on to each of their children.5

About gantenerumabGantenerumab is an investigational medicine designed to bind to aggregated forms of beta-amyloid and remove beta-amyloid plaques, a pathological hallmark of AD thought to lead to brain cell death. Previous clinical studies of gantenerumab showed beta-amyloid plaque lowering in people with the more common form of AD that is not directly caused by gene mutations. The clinical significance of this effect is being investigated in two Phase III studies (GRADUATE 1 and 2), which are assessing the safety and efficacy of gantenerumab for the treatment of people with sporadic AD. The GRADUATE programme is currently enrolling more than 2,000 patients in up to 350 study centres in more than 30 countries worldwide.About Roche in neuroscienceNeuroscience is a major focus of research and development at Roche. The companys goal is to develop treatment options based on the biology of the nervous system to help improve the lives of people with chronic and potentially devastating diseases. Roche has more than a dozen investigational medicines in clinical development for diseases that include multiple sclerosis, spinal muscular atrophy, neuromyelitis optica spectrum disorder, Alzheimers disease, Huntingtons disease, Parkinsons disease and autism.

About RocheRoche is a global pioneer in pharmaceuticals and diagnostics focused on advancing science to improve peoples lives. The combined strengths of pharmaceuticals and diagnostics under one roof have made Roche the leader in personalised healthcare a strategy that aims to fit the right treatment to each patient in the best way possible.

Roche is the worlds largest biotech company, with truly differentiated medicines in oncology, immunology, infectious diseases, ophthalmology and diseases of the central nervous system. Roche is also the world leader in in vitro diagnostics and tissue-based cancer diagnostics, and a frontrunner in diabetes management.

Founded in 1896, Roche continues to search for better ways to prevent, diagnose and treat diseases and make a sustainable contribution to society. The company also aims to improve patient access to medical innovations by working with all relevant stakeholders. More than thirty medicines developed by Roche are included in the World Health Organization Model Lists of Essential Medicines, among them life-saving antibiotics, antimalarials and cancer medicines. Moreover, for the eleventh consecutive year, Roche has been recognised as one of the most sustainable companies in the Pharmaceuticals Industry by the Dow Jones Sustainability Indices (DJSI).

The Roche Group, headquartered in Basel, Switzerland, is active in over 100 countries and in 2019 employed about 98,000 people worldwide. In 2019, Roche invested CHF 11.7 billion in R&D and posted sales of CHF 61.5 billion. Genentech, in the United States, is a wholly owned member of the Roche Group. Roche is the majority shareholder in Chugai Pharmaceutical, Japan. For more information, please visit http://www.roche.com.

All trademarks used or mentioned in this release are protected by law.

References[1] Bateman RJ, et al.: Autosomal-dominant Alzheimers disease: a review and proposal for the prevention of Alzheimers disease. Alzheimers Research & Therapy 2011, 3:1.[2] The Dominantly Inherited Alzheimer Network. What is DIAD. [Internet; cited 2020 Jan]. Available from: https://dian.wustl.edu/about/.%5B3%5D ClinicalTrials.gov. Dominantly Inherited Alzheimer Network Trial: An Opportunity to Prevent Dementia. A Study of Potential Disease Modifying Treatments in Individuals at Risk for or With a Type of Early Onset Alzheimer's Disease Caused by a Genetic Mutation. (DIAN-TU) [Internet; cited 2020 Jan]. Available from: https://clinicaltrials.gov/ct2/show/NCT01760005.%5B4%5D Bateman et al. Autosomal-dominant Alzheimers disease: a review and proposal for the prevention of Alzheimers disease. Alzheimers Res Ther. 2011;3(1):1.[5] National Institute on Aging. What Causes Alzheimers Disease. [Internet; cited 2020 Jan]. Available from: https://www.nia.nih.gov/health/what-causes-alzheimers-disease.

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Roche Group Media RelationsPhone: +41 61 688 8888 / e-mail: media.relations@roche.com- Nicolas Dunant (Head)- Patrick Barth- Daniel Grotzky- Karsten Kleine- Nathalie Meetz- Barbara von Schnurbein

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Roche provides topline results from investigator-led Phase II/III trial with gantenerumab in rare inherited form of Alzheimers disease - Yahoo Finance

(MENAFN - The Peninsula) For Qatar Foundation academic and avid runner Dr. Jeremie Arash Rafii Tabrizi, Education City is about to become Endurance City.At 4pm today, the professor of genetic medicine at Weill Cornell Medicine-Qatar whose love of running has seen him tackle terrain ranging from deserts to mountains will start running his first 6km loop around Qatar Foundation (QF). He won't run his last one until 24 hours later.During that time, Dr. Tabrizi will cover a distance equivalent to between three and four marathons, running around the same Education City route time after time, with only brief stops for food and water. And with his 'ultra-run challenge stretching into National Sport Day, when QF will welcome Qatar's community to enjoy activities focused on sport and active living, he's inviting people to lend their support as he goes through the pain barrier by running, jogging, or walking a loop with him.An ultra-run is any foot race longer than a standard marathon length, and Dr. Tabrizi says: 'I do one every year, because if you do too many the sense of adventure and victory goes away, and after doing a 200km run in Italy last year I was looking for something for 2020.'An athlete and trainer who I know told me that he did a 24-hour race around the same 400M track, because the challenge was not so much the physical side as the mental aspect seeing the same things hour after hour, using the same muscles all the time.'I found this interesting, and thought about how I could bring an ultra-run into the community, to share it with people who might then decide to run a marathon or even an ultra-race themselves.Dr. Tabrizi, who has been ultra-running for 14 years, decided Education City should be the venue for his test of endurance because of his pride in the emphasis that QF and Qatar place on education.'I go to other countries and people tell me how they see QF as a model for the region and how they would love their country to have universities like those at QF, he explains. 'It shows how QF is setting the standard for the region in terms of education.'The concept of my run is to highlight this, which is why I decided to run a loop around the universities at QF rather than just run around a track. I just feel it's a way of acknowledging the work that QF, and everyone within it, does.The first 24-hour run to be held in Qatar is open for everyone, of all ages, to join at any time, with members of the Qatar Ultra Runners group among those who will be participating. Dr. Tabrizi who will set off from Education City's Green Spine outside Weill Cornell Medicine-Qatar, a QF partner university, today plans to run for 50-55 minutes at a time, pausing only to rehydrate and refuel, and will adjust his pace according to who joins him. By the time he finishes, he expects to have covered between 120-150km.'I'm excited about it, he says. 'I know it will be hard, but ultra-running is an adventure, and you become addicted to that adventure.'At some point, you have to dig deep inside yourself and find something positive and uplifting that gets you to the finish; you just find a way of dealing with whatever comes. I wanted to bring a run like this into the community so people can see that something they may have thought was impossible is actually achievable, and this may inspire them to make a change in their own lives or lifestyles.'My goal is just to get as many people as possible running a loop or part of a loop with me, and I'm very grateful for all the support I've had already. People can even come at midnight or 2am and run a loop, and I'd imagine not many have ever thought of doing that, so it's an adventure for them. It gives them a chance to live something different, and it helps me because running through the night is difficult you're cold, exhausted, a bit lonely, and what gets you through is having people alongside to talk to.Dr. Tabrizi is adamant about the psychological as well as the physical benefit that running, and physical activity in general, brings. 'I started running when I was a medical student, after lectures, because it was a way of disconnecting and alleviating pressure, and I've continued ever since, he says.'When you run, you're away from your phone, you're there with your thoughts, you often find ideas coming to you, and you de-stress. Even in a world with as much technology as ours, it's not impossible to just find 30 minutes or an hour a day for physical activity, even if it's just walking because that's the time when we connect with ourselves.

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Qatar- The QF Doc who's running around the clock - MENAFN.COM

Supercharging the mutation rate in cancer cells can create a powerful vaccine that is able to boost the effectiveness of immunotherapy, a major new study reports.

Scientists forced cancer cells in the lab to evolve much more rapidly than usual using a molecule called APOBEC3B, which is often used by tumours to drive rapid genetic change and drug resistance.

They found that these highly mutated cancer cells could be used to create a vaccine for each individual cancer type, which amplified the effects of immunotherapy and cured mice with a variety of otherwise treatment-resistant tumours.

The international study carried out by scientists at The Institute of Cancer Research, London, theMayo Clinicin Rochester, US, and theUniversity of Leeds is the first to show that APOBEC3Bs role in driving cancer evolution can be used to create vaccines that can boost the immune response.

The researchers want to take their new technique for creating personalised vaccines into the clinic as early as next year starting with a trial inchildrenwith brain tumours.

The findings arepublished inNature Communicationstoday (Friday).

The researchers first showed they could drive rapid genetic changes in human cancer cells in the lab using high levels of APOBEC3B, which is able to edit the DNA code of cells, giving rise to genetic changes that can be seen as signatures or footprints.

The genetic analysis revealed more than a million extra mutations in the cells expressing APOBEC3B, compared with control cells. Of these, around 68,000 contained the classical APOBEC signature. These genetic signatures made cancer cells vulnerable to treatment with immune checkpoint blockade, a major strategy in immunotherapy.

However, by generating new genetic changes, APOBEC3B can also drive cancer evolution and help cancer cells become resistant to chemotherapy.

So rather than give APOBEC3B directly to tumours as a treatment, the researchers instead used the genetic signature it left behind to create individual cancer vaccines, each tailored to the particular genetic profile of a specific tumour.

They gave mice highly mutated cancer cell vaccines, in the form of mutant cancer proteins, and these elicited an immune attack against their tumours as they were immediately detected as foreign.

By combining the individualised tumour vaccines with checkpoint inhibitor immunotherapy, the researchers were able to cure melanoma and brain tumours in mice.

The next step is further preclinical research to translate these findings further into human cell systems, with the aim to take the vaccine technique into clinical trials for paediatric brain tumours within the next year.

The Institute of Cancer Research (ICR) has been focusing on increasing its understanding of APOBEC protein molecules, which are crucial to the ability of the immune system to adapt to different infectious diseases but are also hijacked in many cancers to speed up evolution of drug resistance.

The potential of APOBEC inhibitors to slow down cancer evolution is enormous. This study now demonstrates that APOBEC3B could also be used to increase the effectiveness of new treatments that use immunotherapy to attack tumours.

The ICR a charity and research institute is creatinga new 75 million Centre for Cancer Drug Discoveryto study molecules like APOBEC3B, with the aim of creating new cancer treatments that can overcome the major challenge of cancer evolution and drug resistance. The ICR has less than 10 million left to raise to deliver the new building.

This study was supported by a variety of funders theNational Institute of Health, theEuropean Research Council, theRichard M. Schulze Family Foundation, the University of Minnesota and Mayo Clinic Partnership,Cancer Research UK, theShannon OHara Foundation,Hyundai Hope On Wheels, and a research grant fromOncolytics Biotech.

Study authorProfessor Alan Melcher, Professor ofTranslational Immunotherapyat The Institute of Cancer Research, London, said:

Our new study rather paradoxically takes advantage of a mechanism used by cancers to rapidly evolve and become resistant to chemotherapy, and instead makes them much more vulnerable to the effects of immunotherapy.

We have supercharged genetic changes in cancer in order to create cancer vaccines, which are tailored to the genetic code of these tumours, and can boost the immune response against them.

By combining our vaccines with checkpoint inhibitor chemotherapy, weve shown in mice that its possible to cure tumours in a variety of locations, including the brain. Our new approach has the potential to be effective against cancers that do not currently respond to treatment, and were keen to take it into clinical trials as soon as possible.

Professor Paul Workman, Chief Executive of The Institute of Cancer Research, London, said:

Cancers ability to evolve and become drug resistant is the biggest challenge we face in treating the disease more effectively. But this exciting new study also suggests it is possible to use a key evolutionary mechanism against cancers, by forcing them to accumulate genetic mutations that are able to spark the immune system against them.

This is a terrific example of the kind of exciting research into cancer evolution and drug resistance that will be the focus of our pioneering 75 million Centre for Cancer Drug Discovery, and which we hope will deliver entirely new types of cancer treatment.

Co-authorDr Adel Samson, from the University of Leeds School of Medicine, said:

Adult cancers are caused by an accumulation of genetic mutations, which can provide resistance to conventional chemotherapy drugs. However, the same mutations make it possible for the immune system to detect and kill the cancer.

This study demonstrates how we might apply this concept to future therapeutic cancer vaccines, by artificially mutating patient-derived cancerous cells in the laboratory, then injecting the mutated cell proteins back into the same patient.

In doing so, this immunotherapy would be able to trigger an immune response against both the artificially mutated proteins, as well as the closely related cancerous cells originally present in a patient.

Reference: Driscoll, et al. (2020) APOBEC3B-mediated corruption of the tumor cell immunopeptidome induces heteroclitic neoepitopes for cancer immunotherapy. Nat Commun. DOI:https://doi.org/10.1038/s41467-020-14568-7

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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Cancer Vaccine Could Amplify Effects of Immunotherapy - Technology Networks

SEATTLE:Every few years, humanity succumbs to mass hysteria at the prospect of a global pandemic.

In this century alone, SARS, H1N1, Ebola, MERS, Zika, and now the coronavirus have all generated reactions that, in retrospect, seem disproportionate to the actual impact of the disease.

The 2002 to 2003 SARS outbreak in China (also a coronavirus, likely transmitted from bat to human) infected 8,000 people and caused fewer than 800 deaths.

Nonetheless, it resulted in an estimated US$40 billion in lost economic activity, owing to closed borders, travel stoppages, business disruptions, and emergency healthcare costs.

UNDERSTANDABLE BUT UNPRODUCTIVE REACTIONS

Such reactions are understandable. The prospect of an infectious disease killing our children triggers ancient survival instincts.

Modern medicine and health systems have created the illusion that we have complete biological control over our collective fate, even though the inter-connectedness of the modern world has actually accelerated the rate at which new pathogens emerge and spread.

And there are good reasons to fear new infectious diseases: The Coalition for Epidemic Preparedness Innovations (CEPI) estimates that a highly contagious, lethal, airborne pathogen similar to the 1918 Spanish flu could kill nearly 33 million people worldwide in just six months.

Nonetheless, the fearmongering and draconian responses to each outbreak are unproductive. We are a biological species living among other organisms that sometimes pose a danger to us and have evolutionary advantages over us of sheer numbers and rapid mutational rates.

Our most powerful weapon against that threat is our intelligence. Owing to modern science and technology, and our capacity for collective action, we already have the tools to prevent, manage and contain global pandemics.

Rather than thrashing around every time a new pathogen surprises us, we should simply deploy the same resources, organisation and ingenuity that we apply to building and managing our military assets.

Specifically, we need a three-pronged approach.

INVEST IN SCIENCE AND TECHNOLOGY

First, we must invest in science and technology. Our current military capabilities are the result of trillions of dollars of investment in research and development.

Yet we deploy only a fraction of those resources to the rapid development of vaccines, antibiotics, and diagnostics to fight dangerous pathogens.

Advances in biology allow us to understand a new pathogens genetic code and mutational capabilities. We can now manipulate the immune system to fight disease and rapidly develop more effective therapeutics and diagnostics.

New RNA vaccines, for example, can programmeour own cells to deliver proteins that alert the immune system to develop antibodies against a disease, essentially turning our bodies into vaccine factories.

Looking ahead, the mandates of government research organisations should be broadened to support much more research into pandemic response.

STRATEGIC PREPAREDNESS

The second prong is strategic preparedness. We in modern societies put a lot of faith in our militaries, because we value committed public servants and soldiers who vigilantly guard against threats to national security.

But while public health and scientific research institutions are stocked with similar levels of talent, they receive far less government support.

Consider a scenario in which the US is attacked by another country. We would not expect the US Defense Secretary to announce that, in response, the government will quickly build new stealth bombers from scratch while it plans a counter-offensive.

The idea is ridiculous, yet it accurately reflects the US current response to biological threats.

In 2018, US President Donald Trumps administration shut down the US National Security Councils unit for coordinating responses to pandemics. It has also defunded the arm of the Centers for Disease Control (CDC) that monitors and prepares for epidemics.

But even more corrosive has been the administrations public denigration of science, which erodes the publics trust in scientific and medical expertise.

A better approach would be to recognise health workers and scientists for their service, create the infrastructure to develop and deploy emergency health technologies, and proactively fund the organisations tasked with pandemic response.

As a first step, the US government should reestablish the shutteredunit with a dedicated pandemic tsar, and fully fund the agencies responsible for managing the threat, including the CDC, the Department of Homeland Security, and the National Institutes of Health.

COORDINATED GLOBAL RESPONSE

The third prong is a coordinated global response.

Although it is antithetical to Trumps idea of America First, the US needs to lead on issues where cooperation clearly has advantages over national-level policies.

The US should support global mechanisms to identify and monitor emerging pathogens; coordinate a special force of health workers that can immediately deploy to epidemic sites; create new financing facilities (such as global epidemic insurance) that can quickly mobilise resources for emergency response, and develop and stockpile vaccines.

Here, the first step is for governments to increase funding for CEPI, which was created after the 2014 Ebola epidemic to develop and deploy vaccines.

The agencys initial funding, provided by a coalition of governments and foundations, totaled only US$500 million, or about half the cost of a single stealth bomber. Its budget should be far, far larger.

NO FINAL PEACE

In the arms race with pathogens, there can be no final peace. The only question is whether we fight well or poorly.

Fighting poorly means allowing pathogens to cause massive periodic disruptions and impose huge burdens in the form of lost economic productivity.

Fighting well means investing appropriately in science and technology, funding the right people and infrastructure to optimise strategic preparedness, and assuming leadership over coordinated global responses.

It is only a matter of time before we are confronted with a truly lethal pathogen capable of taking many more lives than even the worst of our human wars. We are intelligent enough as a species to avoid that fate.

But we need to use the best of our knowledge, talent, and organisational capacity to save ourselves. And we need to focus on responsible preparation now.

Download our app or subscribe to our Telegram channel for the latest updates on the Wuhan virus outbreak: https://cna.asia/telegram

Julie Sunderland, a former director of the Gates Foundations Strategic Investment Fund, is a co-founder and Managing Director of Biomatics Capital Partners.

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Commentary: Modern medicine, health systems have created illusion we have complete biological control over our fate - CNA

A YOUNG girls life has been changed for ever thanks to dedicated doctors who helped her learn to walk and talk.

Five-year-old Anastasia Buturin, from Seaford, overcame a rare genetic condition which had previously baffled medics.

As a baby, she had gradually stopped moving her arms, hands and legs and doctors in her native Romania were not able to pinpoint the cause.

In 2016 she moved to the UK with her parents Valentin and Cristina and started having regular physical therapy to try to remedy her condition but there was no improvement.

By the time she was three, she could not move her head and could barely open her eyes, spending most of her time asleep.

But her parents refused to accept that she would never be able to walk and talk and kept fighting to help her.

Her mother said: When Anastasia was born she was a normal healthy baby.

She was very happy, smiley and made lots of eye contact.

When she was about three months old, we noticed that she was becoming very floppy and was struggling to hold her head up. As she got older she couldnt move her hands, arms or legs.

We were extremely concerned but no one was able to tell us what was wrong.

She had lots of tests done and we took her to see different doctors but they were baffled by her condition and the closest we got to a diagnosis was that she might have cerebral palsy but no one could say for certain.

We couldnt accept that she would never be able to walk or talk and we were desperate for answers.

Thankfully she was able to communicate with us by moving her eyes and smiling but as she got older making those movements became increasingly difficult.

It was heart-breaking watching Anastasias body deteriorate. We began to fear that her life was in danger.

In early 2018 she was transferred to the Evelina London hospital and had a series of genetic tests which revealed she had a severe form of a rare genetic condition called tyrosine hydroxylase deficiency. The condition is caused by a reduction in the amount of dopamine, a chemical produced naturally in the body, which helps the muscles and the brain to function effectively.

Anastasia was started on dopamine replacement treatment and the new approach worked wonders.

Her father Valentin said: Once Anastasia started treatment we saw a change in her condition almost immediately. Within two days she was able to wave her hands around, open the palms and cuddle her teddies.

Six months after she began treatment she started saying words and she said Mum and Dad for the first time last December.

It was such a magical moment. We waited four years to hear her say those words.

Dr Helen Mundy, consultant in paediatric inherited metabolic medicine at Evelina London, said: The condition can be very difficult to spot and diagnose but at Evelina London we are very fortunate to have teams here that are able to diagnose and treat rare conditions like this.

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Seaford girl with rare condition learns to talk after breakthrough - The Argus