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Solving the puzzle of rare diseases through international collaboration

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The majority of rare diseases have no approved treatments (less than 6% have), but scientific strides have brought promising new therapeutic models.

Shortening the diagnostic journey and providing effective treatments are key to a longer and healthier life for patients. These are just a few of the major milestones in rare disease research spearheaded by the International Rare Diseases Research Consortium (IRDiRC), a joint initiative by the European Commission and the US National Institutes of Health launched in 2011. As the largest consortium in rare diseases research in the world today, with close to 60 organisations, the IRDiRC has taken international rare disease collaboration to new heights.

Close to 300 million people around the world have a rare disease (RD) today, but there is good reason to hope that the root causes of genetic RD – most rare diseases are genetic – will eventually be discovered. And even though the majority of RDs have no approved treatments (less than 6% of RDs have), scientific strides have brought promising new therapeutic models. For instance, RNA-based therapies and viral vector-based gene therapies have been added to the arsenal.

According to the IRDiRC, the genetic causes of over 4,000 RDs have already been identified.

A great comfort to those suffering from a disease is that it can at least be identified, says the IRDiRC’s retiring Chair Dr Lucia Monaco. This rings particularly true for families of children suffering from RDs – as children are primarily afflicted. She described the medical journey travelled by the patient (and their families and doctors) as ‘diagnostic odysseys’.

Enter the European Commission and the US National Institutes of Health, which in 2011 together launched an initiative to unify fragmented RD research, cut research costs, bring experts together, and create what today is the world’s largest consortium in RD research, the IRDiRC, with stunning results – helped along by major advances in genomics.

Diagnosis within a year – the IRDiRC’s promise

Today, the consortium is what Dr Monaco calls a collective intelligence’, counting among its ranks key organisations funding RD research, companies investing in RD research and umbrella patient advocacy groups from Asia, Africa, North America, South America, Europe and Australia.

The IRDiRC is perhaps best known for its inspiring commitment to ensure that each patient coming to medical attention with a suspected RD will be diagnosed and receive care and the available treatments within a year if their disease is known in the medical literature. Equally important, those suffering from a suspected RD but without a diagnosis within a year will be logged into a global diagnostic and research pipeline, allowing researchers to identify and match any RD in the future.

Dr Monaco highlights how the IRDiRC addressed the problem of the ‘diagnostic odyssey’ many people face, by setting up a task force that later led to the creation of a gamechanging informatics tool.

‘Now, when the same genetic fingerprint and clinical manifestations belonging to different persons affected by a still unknown disease are stored in different databases around the world, we are able to match them and identify the disease for such extremely rare conditions,’ said Dr Monaco.

‘We have named this match tool the Matchmaker Exchange,’ she explained. The IRDiRC launched an international and open collaboration in 2013 in cooperation with the Global Alliance for Genomics and Health, resulting in a wide network of international participants for the Matchmaker Exchange. This tool has been instrumental in finding the genetic causes for patients with RD by providing evidence – from cases around the world – to identify the causative genes.

Delivering 1,000 new treatments

The IRDiRC has also succeeded in meeting its second original goal – that of helping develop 200 new therapies for RDs within a decade. It then decided to become more ambitious.

‘We had initially set 200 new therapies as a goal for the decade 2010-2020,’ said Dr Monaco. ‘We reached this deadline three years earlier, which then stimulated the IRDiRC to set a new goal to reach 1,000 new therapies by the end of the decade 2017-2027.’

Concurrently, the IRDiRC also adjusted its primary goal to reflect not just its commitment to diagnosing people with a known RD within one year of seeking medical attention, but also to ensuring they get access to treatment and care for the RD within the same time frame.

A toolkit the world can use

The IRDiRC also created a working group that identified an original list of more than 200 known therapies that are considered essential to RDs. This aligns with the need and urgency to make any already-approved therapies accessible to patients living with RDs.

Working with healthcare organisations and caregivers, the IRDiRC drew up and published the RD list of essential treatments, based on the strength of scientific evidence and input by experts.

‘Any healthcare system in any country in the world can use it as a reference when making their own decision[s] on making these therapies accessible to patients, in the frame of their political and economic contexts,’ commented Dr Monaco.

Dr Monaco also singles out the IRDiRC’s unique guidebook for orphan drug designation as one of the consortium’s crowning achievements, noting how drugs have so far been developed for a small number of rare diseases, leading to the need for orphan drugs as well as guidance in bringing them in for approval. ‘It’s an interactive tool that is accessible from our website, that has all the building blocks that have to be in place,’ she noted.

Among other initiatives over the last decade, the IRDiRC also produced a key set of recommendations on clinical trial designs appropriate to small populations, a scenario often the case with RD research.

What the future holds

‘One term has come to light – precision medicine – during the 10 years [since the IRDiRC was founded]. We have billions of letters [nucleotides] in our genome [that make up gene sequences] and that will define our health in many respects,’ Dr Pearce added, describing the value of genomics in new health treatments. ‘Of course, other things we will do will have a huge influence on our health as well. But precision medicine has really grown… in terms of understanding the changes in our DNA that cause cancer and how cancer cells develop and grow – it doesn’t get any more precise than an RD.’

Dr Pearce, who is the the current president of Innovation, Research and World Clinics at Sanford Health, is also an expert on Batten disease (a genetic disorder of the nervous system). He looks forward to increasing the IRDiRC’s membership, by ‘proving the value of bringing people together,’ and is keen to expand geographically, bringing in more members from South America, Africa, and Asia.

‘We need to make the IRDiRC truly more global, because we need the different viewpoints and research,’ he explained. ‘Also, to truly understand those billions of letters [in the human genome], we need to have the diversity of the entire planet.’

Dr Pearce aims to foster greater communication and even more partnerships for the IRDiRC, but with an added focus: developing the consortium’s goal of measuring the impact on educating people on why it is important to develop RD diagnostics and therapies.

‘I believe this organisation and this current membership have the ability to influence, and as we grow the membership, we will be able to influence more,’ he concluded.

The research in this article was funded by the EU. This article was originally published in Horizon, the EU Research and Innovation Magazine.  

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Boosting brain function in later life through singing

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Ask anyone in a choir why they enjoy it, and they will tell you about the euphoric effects singing has on their mental health. A team of neuroscientists and clinical psychologists based at the University of Helsinki (Finland) believe these benefits could extend to improving brain function and treating aphasia.

Professor Teppo Särkämö is studying how ageing affects the way singing is processed by the brain, which could have important therapeutic applications. ‘We know a lot about speech processing, but not much about singing. We’re exploring how different singing related functions might be preserved in many neurological diseases,’ he explained.

For people with aphasia, a condition which severely impairs communication and is commonly caused by stroke, communication can be almost impossible as they struggle to sound out the right words. Yet, through a technique known as ‘melodic intonation therapy’ – whereby people are asked to sing an everyday sentence instead of speaking it – quite incredibly they often find a voice.

Coordinator of the PREMUS project, Prof Särkämö and his team are using similar methods, scaling-up the approach through specially-run ‘senior choirs’ that involve aphasic patients and their families. The scientists are exploring how singing could play an important rehabilitative role for cases of aphasia and might prevent cognitive decline too.

Hitting the right notes

The PREMUS study is coordinated with a local aphasia organisation in Helsinki and involves around 25 people per choir, both aphasia patients and their family caregivers. Results of the trial show encouraging results.

‘Ultimately, the aim through our work with persons with aphasia is to use singing as a tool to train speech production and eventually enable them to communicate without singing. But through the choirs we are beginning to see how this approach is translating to people’s daily life as an important communication tool,’ said Särkämö.

Alongside an aphasia choir, the team has also carried out extensive fMRI brain scans of young, middle aged and older adults who participate in choirs to understand why singing is so important at different life stages. Their results indicate that as we age, the brain networks involved in singing undergo fewer changes than those that process speech, suggesting that singing is more widespread in the brain and more resilient to ageing.

Their studies also suggest that being actively engaged in singing, as opposed to listening to choral music for example, is crucial. ‘When you’re singing, you are engaging in the frontal and parietal systems in the brain where you regulate your own behaviour, and you use more of your motor and cognitive resources in terms of vocal control and executive functions,’ said Särkämö.

Early results from a longitudinal study, which compared neurocognitive functioning between members of senior choirs and healthy older adults (who do not sing) showed the positive effects of singing on cognitive and auditory functioning and the importance of the social interaction it brings, which may help delay the onset of dementia.

Choir members performed better in neuropsychological tests, reported fewer cognitive difficulties, and had higher social integration. Electroencephalogram measurements of the same groups suggest that the choir singers had more advanced higher-level auditory processing abilities, especially for combining pitch and location information in frontotemporal brain regions, something Särkämö attributes to the complexity of the sound environment in choir singing.

The next step will be to replicate and expand this work with senior choirs for patients diagnosed with Alzheimer’s and to develop a large-scale clinical trial to test the effect. The challenge, however, is likely to be different with Alzheimer’s: whereas patients may remember songs from their past, Särkämö is unsure to what extent they can learn and retain new lyrics.

He is both optimistic and realistic about this work. ‘This is all about trying to stimulate the remaining networks in the brain. We believe singing could help to regain some of those functions, but of course with Alzheimer’s it’s a brutal, progressive disorder so it’s a matter of buying more time and trying to slow down the pattern of decline happening already.’

Same song sheet

Someone else firmly focused on responding to the challenges of an ageing population is Christian A. Drevon, Professor of medicine at the University of Oslo (Norway). Drevon is a specialist in biomarkers and is now using his expertise to understand the different factors affecting neurocognitive function in the EU-funded Lifebrain project.

’Most studies about Alzheimer’s are cross-sectional where you take a group of people, look at a certain time and associate certain things with those who have the disease and those who don’t,’ he explained. ‘However, this is often not causal; you can’t tell if it’s the reason for the disease or if it’s just a consequence of it.’

To really understand what’s happening with Alzheimer’s and dementia, data are needed for individuals spanning periods both when they are healthy and when they are not, to tease apart what has gone wrong. Unpicking this question is the primary aim of Lifebrain, coordinated by psychologists Professors Kristine Walhovd and Anders Fjell.

By pooling pre-existing MRI brain scan data from people right across Europe, the Lifebrain project has analysed the significance of a range of different factors on cognition when we age and how this might vary between individuals.

To analyse over 40 000 brain scans from more than 5 000 people aged 1880 across seven countries, the first challenge was to harmonise the data. Do MRI scans in Sweden and Spain produce the same results? To ensure they do, Lifebrain sent eight participants around Europe to be scanned and to adjust equipment accordingly.

All psychological tests (including cognitive tests) and other collected data (body weight; demographic; genetic; and lifestyle data, including sleep and diet) were harmonised.

Next, the team linked MRI data with additional databases which uncovered new insights about how where you live and what access you have to green space might help lower dementia risk. Conversely, it also helped to reveal how education and sleep may be less important for future risk of dementia than previously assumed.  

‘Lots of studies have claimed education is really important for reducing the risk of dementia. But if you follow people longitudinally through life there’s actually no association,’ said Drevon. ‘That doesn’t mean education isn’t important; it means it’s probably not true that education will prevent you from developing dementia. We have to search for other factors of importance.’

Given the expense of MRIs, Drevon suggests tiny blood samples (dried blood spots) could be taken by finger-prick without professional support to provide individual insights in the future. Analysed in an advanced laboratory like Vitas Ltd – Lifebrain partner – this could be a game-changer in providing tailored, online advice about individual risks.

‘If you really want to improve lifestyle, you probably have to personalise it. You have to measure several factors on an individual level across the life course,’ he said. ‘Our best chance of fighting cognitive decline and dementia will come from early preventative measures using this lifespan data approach.’

Work out songs

In time Prof Drevon hopes these personalised insights could help delay or potentially eradicate certain aspects of dementia. In the meantime, what about singing to stave off cognitive decline as proposed by Särkämö through the PREMUS project? Does he agree singing could be an important preventative step?

‘Well, the brain is like a muscle. If you train it, you make it fit, and if you use your brain for singing, it’s complicated, there are a lot of processes, it’s about remembering. Of course, there are other ways of training the brain, but singing is a very good example of how you can help to improve brain function.’  

The research in this article was funded by the EU. This article was originally published in Horizon, the EU Research and Innovation Magazine.  

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The Benefits Of Feeding Your Baby Organic Formula

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There are many benefits that come from feeding your baby formula milk, not to mention that it is much easier and allows for mothers to be more flexible with their schedule. There is no need for mom to worry about what she is and is not putting in her body and not breastfeeding means that dad can share the feeding duty as well.

However, when it comes to using formula milk, the last thing any parent wants is to be feeding their beloved child with one that contains lots of nasty and / or potentially harmful chemicals that impact on both their growth and their overall general health /wellbeing.

Organic baby formula is the perfect choice then in order to ensure that your baby gets everything that they need to grow up and develop into a happy and healthy child. There are many brands nowadays that produce organic baby formula milk and you can buy it online from MyOrganicCompany; learn more about the company and its products by clicking the link.

There are many different benefits to feeding your baby organic formula milk with some of the most significant ones listed below for you to read in detail.

It does not contain any synthetic ingredients

As opposed to conventional baby formula milk, the organic stuff is free from any ingredients that are synthetic. Synthetic ingredients should not be going anywhere near the insides of a delicate newborn baby. In addition to this, none organic baby formulas typically contain artificial sweeteners that can seriously damage a young child’s health.

When consumed regularly, many babies build up an intolerance to the synthetic and artificial ingredients found in conventional baby formula. Over time, they may experience certain gastrointestinal health issues as a result. This includes things like constipation and / or diarrhea. By feeding your baby a formula milk that is free of synthetic ingredients, you do not have to worry about it happening to them.

It contains lots of nutrients

While a formula milk tasting nice can encourage a baby to feed, the main goal here is to get all of the required nutrients and minerals into them so that they can grow into a strong and healthy child. With organic baby formula, being dense in nutrients is the main priority and so typically it is jam packed full of the correct blend of vitamins, such as Vitamin E, that are necessary for the healthy functioning of the red blood cells, immune system, and organs of your baby. The great thing about Vitamin E is that it is also an antioxidant and so it works to protect your child’s body from being attacked by free radicals.

This is why you should feed your baby organic formula milk rather than the none organic stuff. The most nutrient rich organic baby formulas are in fact those from European countries as they pay extra close attention to what good stuff goes into the formula milk.

It is advantageous to mental development

Organic baby formula milk is also much better for the mental development of your baby. As well as having way more nutrients, this type of formula milk also contains the perfect amount of polyunsaturated fatty acids, including Omega 3 fatty acids. These nutrients are particularly beneficial to your baby’s health as they help significantly in mental development (as well as physical development).

Mental issues, such as depression and anxiety, are often things that affect people for the whole of their life and so it is, of course advisable to dry and avoid these things from happening in the very first place. Getting a good amount of both Omega 3 fatty acids and all other types of polyunsaturated fatty acids is therefore essential for preventing mental development issues from occurring.

Getting these nutrients can also go some way to making your child more communicative and more intelligent. Additionally, they can prevent certain behavioral issues from arising also. Finally, if your baby has lots of these types of nutrients in them, it makes them more protected from conditions, such as autism, attention deficit hyperactivity disorder (ADHD), and even cerebral palsy.

It does not contain any GMOs

Genetically modified organisms (GMOs) are in a large proportion of the foods that we eat nowadays. These organisms are not good for adults to consume and so are even worse for developing babies to feed on. It has been estimated that in the United States, almost as much as 75 percent of all food items available in grocery stores have some amount of GMO ingredients in them. By using organic baby formula milk, you can ensure that your little bundle of joy is not consuming any of these harmful GMOs or any synthetic ingredients at all.

When it comes to what we put into our bodies and that of our offspring, natural is always the best option to go with. Nowaday cows are constantly being pumped full of various different pesticides, antibiotics, and so much more and this will eventually end up coming out in the milk they produce. If you feed this milk to your baby then no doubt they will be consuming some of these harmful chemicals.

Rather than having this worry, it is good to know that the organic baby formula milk that you are bringing your child up on is free from all of these harmful things, whilst at the same time being full of all of the good stuff that they need to thrive.

It comes with lots of choice

It may be the case that your baby has specific dietary requirements that need to be met in order for them to get all of the nutrients and goodness that they need. They may even be suffering from certain health conditions, such as constipation and / or gas and organic baby formula milk can help to alleviate some of the symptoms associated with these things.

There also exist a wide range of organic formulas to treat common infant / childhood allergies.

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Health Leaders Stress Need for Coordinated Global Response to Tackle Pandemics

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Improved global coordination and regional capacity building will help ensure the world is better prepared for the next pandemic, said leading health experts at the World Economic Forum Annual Meeting 2022.

“We must not lose this moment of potential transformative change in building preparedness,” said Helen E. Clark, Board Chair, Partnership for Maternal, Newborn & Child Health, World Health Organization (WHO). “Unfortunately, political resolve to solve COVID is beginning to fade.”

Paul Kagame, President of Rwanda, pointed out that the COVID-19 pandemic is still raging in many countries. “To date, the African continent has fully vaccinated just 18% of its adult population.” This is mostly due to the lack of virus testing and vaccine administration capacity, he said.

“Investing in health systems and regional bodies like Africa CDC and African Medicines Agency must be a key priority. We have to act in the full expectation that there will be another pandemic.”

Bill Gates, Co-Chair of the Bill & Melinda Gates Foundation, said it was critical to identify and isolate viral outbreaks early. “Infectious disease is an exponential phenomenon and less than 2% of overall deaths occur in the first 100 days.”

“Unfortunately, much of the world’s pandemic risk resides in countries which don’t have the capacity to respond quickly and effectively,” he said. “You have to have global capacity if you are serious about pandemics.”

Peter Sands, Executive Director of the Global Fund to Fight AIDS, Tuberculosis and Malaria, argued for the need for “multi-pathogen infrastructure and capacity”. That is, to ensure that broad public health surveillance and infrastructure are available across the infectious disease spectrum.

“We need to finish the job – and we can do that by investing intelligently in infrastructure like lab networks, community health workers, supply chains and simultaneously help countries defeat HIV, TB and malaria as well as make them safer against future pathogens,” he said.

Francis deSouza, President and CEO of Illumina, predicted that the pandemic will launch the world into what he describes as the “Era of Biology” in which human health, longevity and biology will underpin the 21st century.

“The amount of breakthrough innovations that have occurred during the pandemic period is unprecedented,” he said. On the sequencing front, for example, the price has dropped 99% over the past few years. This has enabled us to deploy sequencing around the world to over 190 countries”.

He added: “However, we are only as strong as the weakest among us, hence we need to build a global infrastructure and have a coordinated global response to the next outbreak.”

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