Sea bird researchers Dr. Malcolm Nicoll and Hannah Wood from the Zoological Society of London have been working as part of the Bertarelli Foundation’s marine science programme in the Indian Ocean for the last several years. Returning to the British Indian Ocean Territory (BIOT) twice a year to conduct their field-work is always a highlight and their most recent expedition is no exception. Although they counted fewer breeding birds than expected, they still managed to tag 31 adult red-footed boobies in the first few days. Birds were tagged with small GPS loggers that record the birds’ position during their long oceanic foraging trips and are recovered from the birds when they return to their nests.
The researchers also started a study of the distribution of wedge-tailed shearwaters on Nelson Island. This population of ground-nesting birds has not previously been studied and, at the time of the expedition, the adults were just starting their breeding season, so this is a fantastic opportunity to make an island-wide population survey.
Meanwhile Dr. Nicole Esteban of Swansea University and Dr. Jacques-Olivier Laloe of Deakin University returned to BIOT to continue their work studying Green and Hawksbill turtles. They had great success flying a drone over Nelson Island’s reef flat to count juvenile turtles using this unique habitat. These new data will help assess how many turtles – and which species – use these waters as foraging grounds.
They also started a new piece of work looking at how plastic pollution is impacting the wildlife on the atoll. Sadly, after completing several surveys of the beaches, they observed that all sorts of single-use and durable plastic items are littered across the island such as plastic bottles, flip-flops, toothbrushes, cigarette lighters, but also cooling boxes and fishing gear. One important research aim is to better understand how this plastic debris might affect the incubation, and sex-ratio of turtle hatchlings.
The two research teams worked together to conduct night-time turtle surveys and managed to deploy a satellite tag on an adult female green sea turtle. This is the first time a turtle was satellite-tagged on this northern outer island of the Chagos Archipelago and we look forward to finding out where she travels to once she has finished laying her eggs.
In 2017, the Bertarelli Foundation made available an amount of 5 million Swiss francs to support the development of some of the most innovative research carried out at Campus Biotech in Geneva. Five projects were selected in 2018. This year, two new projects were chosen by a jury chaired by Pierre Magistretti and were announced at the Bertarelli Symposium.
Sensory feedback for upper-limb prostheses
The first is led by Silvestro Micera, EPFL’s Bertarelli Foundation Chair in Translational Neuroengineering (on the left in the picture above). It aims to develop upper limb prostheses that can not only be directly controlled by analyzing nerve impulses at the residual limb, but also generate sensory feedback to the patient. “Our goal is to understand the basic mechanisms which allow the brain to exploit the sensory feedback and to feel the new hand as part of the body. This will increase the clinical impact of our research”, says Silvestro Micera.
Attentive to the translational dimension of research projects, the jury noted that this work is, in parallel, considering the use of a non-invasive “somatosensory substitution” system, applied to the skin, which already exists off-the-shelf, and a “somatosensory restitution” system, based on the internal stimulation of nerve fibres. The combination of the two approaches expands the spectrum of patients who could benefit from such treatment.
Deep brain stimulation in a non-invasive way
The second new Catalyst project is presented by Friedhelm Hummel, EPFL’s Defitech Foundation Chair in Clinical Neuroengineering (on the right in the picture). He is developing a non-invasive brain stimulation system to improve cognitive function in patients of mild cognitive impairment or brain injury. His approach is based on temporal interference stimulation: by applying two electric fields of different frequencies to the skull via electrodes, it is possible to generate focused stimulation of deep areas of the brain. “Supporting patients suffering from MCI or TBI to keep or regain their cognitive functions is of paramount importance and will impact significantly their daily life. Temporal interference stimulation offers a promising, innovative and non-invasive novel avenue to modulate important deep structures of learning and memory-related brain networks, which could not have been addressed so far non-invasively” says Friedhelm Hummel This might avoid the need for intracranial electrodes.
For the jury, this non-invasive approach to deep brain stimulation is particularly interesting, and could have a strong impact. While many questions remain open about the feasibility of some of the proposed therapies, specialists felt that the underlying innovation was compelling.
After awarding prizes of nearly 300,000 Swiss francs to each of these two projects, the Catalyst Fund still has CHF 2.92 million available for future projects, and a further call for proposals will be made in early 2020.
An important week of science for Switzerland and for the Bertarelli Foundation concluded last Friday with the eighth annual Bertarelli Neuroscience Symposium, the fourth to be held in the country and the second at Campus Biotech. Alongside an audience of scientists and students, also in attendance were delegates from the World Conference of Science Journalists (WCSJ), which had taken place all week in Lausanne and for which the Bertarelli Foundation was proud to have been a lead supporter.
The WCSJ is a bi-annual event that brings together over a thousand science journalists and communication professionals from all over the world. At the conference in San Francisco two years ago, the Foundation supported Lausanne’s bid to host the 2019 edition and continued as one of three main sponsors for the event itself.
More than 1,200 participants in the conference, nearly 150 of whom received a travel bursary, came from 83 countries, including one delegate from Yemen, who had to travel to Cairo for three weeks to get a Swiss visa. Over the course of four days they enjoyed a packed programme of workshops, press conferences and speeches, including from some big names such as the Director of Russia’s Space Research Institute, a NASA administrator, the BBC’s Director of News and Current Affairs, and the Director of CERN.
For Lausanne – home to EPFL and to the University of Lausanne – and for Switzerland, the WCSJ was an opportunity to demonstrate the importance of science and research to the region. And for the Bertarelli Foundation, it provided an opportunity to showcase the work it funds in the fields of neuroscience and marine science, as well as show its support for science journalism and for its vital importance in turning scientific research into stories and news that can be better understood by the public and, crucially, policy makers.
The Foundation had two among 40 stands in the exhibition space, on which scientists from the neuroscience and marine science programmes met with conference delegates to talk about their work, to explain new neuroprosthetic technologies that were on show, or in the case of the marine scientists, invite the journalists to experience the Indian Ocean – both above and below water – via a virtual reality headset, which proved very popular.
Dr Dan Bayley (UCL), a researcher from the Bertarelli Foundation’s marine science programme, transports a #wcsj2019 attendee all the way to the middle of the Indian Ocean with his VR technology
Three scientists from the Foundation’s marine science programme – Prof. Heather Koldewey (Zoological Society of London), Dr. David Jacoby (ZSL) and Dr. Dan Bayley (UCL) – also gave a live press conference with updates from their research (and those of their colleagues) in the British Indian Ocean Territory.
Bertarelli Marine Scientists, Heather Koldewey, David Jacoby and Dan Bayley at their press conference at the 2019 WCSJ
In what must be a first, two of the programme’s scientists joined via satellite technology live from the field on Nelson Island in the Chagos archipelago right in the middle of the Indian Ocean. They were joined by colleagues live from Mauritius and, together, discussed new research they have conducted on, for example, the impact on the marine environment derived from removing rats from islands, which benefits sea bird populations and thus, it seems, coral reefs and fish in the waters close to them.
Live from the Indian Ocean
On Friday, the conference’s last day, journalists split up to attend field trips all over Europe. Some went to CERN, some to IBM, some to The French National Centre for Scientific Research (CNRS) in Lyon, and some to Campus Biotech, in Geneva, where, during the morning, groups were taken around ten of the laboratories. And then in the afternoon, they joined the rest of the audience for the Bertarelli Symposium.
The theme of this year’s Symposium, which was put together by Professor Stéphanie Lacour, the Bertarelli Chair of Neuroprosthetic Technology at EPFL, was neuromodulation, the “alteration of nerve activity through targeted delivery of a stimulus, such as electrical stimulation or chemical agents, to specific neurological sites in the body”.
Symposium speakers with Ernesto and Kirsty Bertarelli at Campus Biotech
Presentations were given by scientists from the four Catalyst projects at Campus Biotech, which the Foundation funds, as well as by two excellent keynote speakers: Professor Tim Denison from the University of Oxford discussed the design and deployment of bioelectronics platforms for translational neuroscience, while Professor Tobias Moser from the University of Göttingen gave a great presentation about how optogenetics will change the design of cochlear implants for people with hearing problems.
Keynote speaker, Professor Tim Denison (University of Oxford)
There was also a talk given by two of the past Bertarelli Fellows: EPFL students who were funded to go and study in a lab at Harvard Medical School for a year of their Master’s research. They talked about how formative the experience had been and why any students in the audience who were considering it, should go for it. There have been a total of 33 Bertarelli Fellows since the programme was initiated and five more will be heading to Boston next year.
Ernesto and Kirsty Bertarelli with four of the EPFL student Fellows who will be heading to Harvard Medical School this year
The Symposium, which was well attended, was closed by Foundation trustee, Kirsty Bertarelli. After her remarks, the audience moved to Campus Biotech’s main atrium for the closing ceremony of the WCSJ, to which journalists from other field trips in the region also came. There were speeches from Ernesto Bertarelli, from Olivier Dessibourg, the President of the WCSJ 2019 and from representatives of EPFL (Vice President of Education, Andreas Mortensen) and the University of Geneva (Vice-Rector, Antoine Geissbuhler), as well as a contemporary dance performance by Flux Laboratory on the Campus Biotech balconies. A fitting end to an important week for science in Switzerland.
Ernesto Bertarelli closing the Geneva leg of the WCSJ
Bertarelli Foundation-funded scientists at Harvard Medical School and Boston Children’s Hospital have published research that describes how they have used a novel gene-editing approach to salvage the hearing of mice with genetic hearing loss. They have succeeded in doing so without any apparent off-target effects as a result of the treatment.
The animals—known as Beethoven mice—were treated for the same genetic mutation that causes progressive hearing loss in humans, culminating in profound deafness by their mid-20s.
The new approach, described online July 3 in Nature Medicine, involves an optimized, more precise version of the classic CRISPR-Cas9 gene-editing system that is better at recognizing the disease-causing mutation seen in Beethoven mice. The refined tool allowed scientists to selectively disable the defective copy of a hearing gene called Tmc1,while sparing the healthy copy.
Notably, the researchers report, their system managed to recognize a single incorrect DNA letter in the defective copy among 3 billion letters in the mouse genome.
Much more work remains to be done before even a highly precise gene-editing therapy like this one could be used in humans, the researchers cautioned. However, they said, the work represents a milestone because it greatly improves the efficacy and safety of standard gene-editing techniques.
“Our results demonstrate that this more refined, better targeted version of the now-classic CRISPR/Cas9 editing tool achieves an unprecedented level of identification and accuracy,” said study co-senior investigator David Corey, the Bertarelli Professor of Translational Medical Science in the Blavatnik Institute at Harvard Medical School.
Furthermore, the team said, the results set the stage for using the same precision approach to treat other dominantly inherited genetic diseases that arise from a single defective copy of a gene.
Everyone inherits two copies of the same gene—one from each parent. In many cases, one normal gene is sufficient to ensure normal function that spares the individual from disease. By contrast, in so-called dominantly inherited genetic disorders, a single defective copy can cause illness.
From left: normal hair cells, untreated hair cells of Beethoven mice, treated hair cells of Beethoven mice.
“We believe our work opens the door toward a hyper-targeted way to treat an array of genetic disorders that arise from one defective copy of a gene,” said study co-senior investigator Jeffrey Holt, Harvard Medical School professor of otolaryngology and neurology at Boston Children’s Hospital. This truly is precision medicine.”
The mice carrying the faulty Tmc1 gene are known as Beethoven mice because the course of their disease mimics the progressive hearing loss experienced by the composer.
The full news story announcing the research is here.
The researchers also started a study of the distribution of wedge-tailed shearwaters on Nelson Island. This population of ground-nesting birds has not previously been studied and, at the time of the expedition, the adults were just starting their breeding season, so this is a fantastic opportunity to make an island-wide population survey.
The two research teams worked together to conduct night-time turtle surveys and managed to deploy a satellite tag on an adult female green sea turtle. This is the first time a turtle was satellite-tagged on this northern outer island of the Chagos Archipelago and we look forward to finding out where she travels to once she has finished laying her eggs.
