Monthly Archives: marzec 2015

JPND members are helping to move forward G7 activities in dementia research.

Making better use of data and sharing it among the research community may accelerate neurodegenerative disease research, as it offers the promise of larger and wider datasets that enable new insights from both well-established and novel sources and types of data. Furthermore, moving beyond established medical data into big data offers the potential to tap into routinely collected data from both within and outside health systems.

In December 2013, the G8 Global Dementia Summit in London identified the better use of available data, resource sharing and researcher collaboration as key priorities. With the ambition to find a cure or disease-modifying therapy by 2025, the G8 health ministers mandated the OECD to report on how big data can be used and shared more efficiently for dementia research.

The results of the OECD review on big data were recently published and presented to the G7 health ministers at the first WHO Ministerial Conference on Global Action Against Dementia in Geneva in March 2015. This case-study review provides an evaluation of existing data sharing practices in research on age-related neurodegenerative diseases. Four exemplar data sharing initiatives (ADNI, AddNeuroMed, UK Biobank and the Swedish Brain Power studies) were examined to better understand current data sharing practices in dementia research and to recommend the next steps required to move forward.

The OECD report was published under the advice of an International Advisory Group chaired by JPND Executive Board member Robin Buckle, with Philippe Amouyel (JPND Management Board Chair), Yves Joanette (JPND MB member, Canada) and Martin Rossor (Vice-Chair JPND SAB) also participating.

This follows the publication in February 2015 of an OECD compendium of current thinking in this area, bringing together a number of position papers on the use of big data in dementia research. These papers emanated from a workshop at the G7 legacy workshop in Ontario in 2014.

Finally, a wider description of this activity and the emerging big data and open science activities is described within the annual reports of both the World Dementia Council and the G7 Global Action against Dementia (GAAD), both published to coincide with the Geneva WHO Ministerial Conference.

The Dementia Discovery Fund, which is being established by the UK government with initial commitments totalling $100 million, brings together leading pharmaceutical companies, the UK government and Alzheimer’s Research UK to address the rising threat posed by dementia by supporting research into future treatments.

The fund aims to identify and nurture promising new avenues of research from around the world in the field of dementia. It is hoped that by providing critical financial support and expert advice during the early stages of research, the development of innovative new treatments for this disease could be accelerated.

The Dementia Discovery Fund will be structured as a typical venture capital fund, but will be the first to focus solely on dementia research. The Fund will comb the global research community for the most promising early stage research to invest in. A scientific advisory board of representatives from each of the partner organisations will provide expert scientific input during the selection of research programmes, as well as providing ongoing advice during pre-clinical and early clinical development. Partners will then be sought for the progression of promising assets through the clinical development pipeline, the intention being that proceeds from licensing or sale of such programmes will be returned to the Fund and its investors. The Fund will appoint a professional investment manager in due course, which will be responsible for its financial governance and investment decisions.

Source: Reuters

On 16 and 17 March 2015, the World Health Organization (WHO) hosted its first Ministerial Conference on Global Action Against Dementia. Ministers from around the world, as well as experts from the research, clinical and NGO communities, came together in Geneva for the first time to discuss the global problems posed by dementia.

The aim is to raise awareness of the socio-economic burden created by dementia, and to highlight that this burden can be reduced if the world collectively commits to placing dementia high on the global public health agenda.

The first day of the conference covered issues from research and drug regulation to care and human rights. On the second day, ministers discussed how to collectively move the global dementia agenda forward.

The conference was supported by the Department of Health of the United Kingdom of Great Britain and Northern Ireland, and the Organization for Economic Cooperation and Development (OECD).

The recorded webcast from the two days of the event is available here and at the link below.

The major outcome of the conference is that WHO member states have agreed to support a formal Call for Action setting out the intent to tackle dementia on an international scale and provide global leadership. The Call for Action was adopted by most of the countries that attended the conference. You can read the Call for Action on the WHO site.

WHO Director-General, Dr. Margaret Chan said

“We have been running behind the curve with dementia for a long time, but several recent events tell us that we are catching up. We must weave these multiple new initiatives into a comprehensive plan that can work in all countries. Government commitment will be key.”

A small sensor, headphones and a mobile phone – the elements of a prototype kit that is giving hope of relief for sufferers of Parkinson’s disease.

A European Framework Programme-backed research project being spearheaded in Barcelona does not offer a cure for the degenerative condition, but it could improve the quality of life of patients and give them more autonomy.

The project is aimed at helping patients manage the different stages of their disease more autonomously. People participating in the study wear a sensor on their waist that records movement data and identifies symptoms. When the patient lacks coordination, acoustic stimuli in the ear help them walk in a straight line.

The data is also sent via mobile phone to doctors, who can follow the evolution and adapt treatment accordingly. “The device tells us how many hours the patient’s state is ‘on’ and ‘off’, how the patient walks during these two different stages of the disease,” says Àngels Bayés, a neurologist at the Teknon Medical Centre, leading the research. “We’re also able to know if the patient suffers from blockages or not, and if so how many blockages he suffers throughout the day. We can also know how fast he can walk. “When the system automatically detects that the patient has motor problems, it activates acoustic stimuli to help the patient walk better.”

Encouraging trials
Researchers say first trials have confirmed that the device can indeed help patients increase their autonomy, although Paola Quispe, a Teknon Medical Centre nurse, says patients she has worked with have suggested some minor improvements: “Most of the patients have said they would prefer smaller sensors. There’s also a gap of around one minute between the moment the sensors identify a problem and the sending of the acoustic stimulation. Patients also said they would prefer to have musical rhythms, instead of just the beat of a metronome.”

Now researchers are working on giving the device the capacity to regulate the medication the patients receive, in real-time and in response to their body’s needs, as Joan Cabestany, a telecommunications engineer and coordinator of the REMPARK project, as it is called, explains: “The next step is to transform this device into a fully operational medical aid. A device that will help doctors provide better diagnostics, and also, eventually, allow them to adapt the patients medication, which will improve their health. But medical devices are heavily regulated in Europe, so we need to work further in this direction.”

Source: EuroNews

GAP, initiated by the New York Academy of Sciences and Global CEO Initiative, is moving one step closer to reaching its goal of establishing a global, trial-ready platform for Alzheimer’s disease.

The Global Alzheimer’s Platform (GAP) and the Innovative Medicines Initiative (IMI) announced today that they will sign a Memorandum of Understanding (MOU) to accelerate Alzheimer’s drug development by building a global, standing, trial-ready platform for Alzheimer’s drug development.

The collaboration represents a significant commitment to work together to recruit patients for clinical trials, to create a high-performing clinical trial system, and to develop a standing adaptive protocol to test new molecules quickly, and move those with promise into later stage development.

Source: New York Academy of Sciences

Adult neurons are touchy things. Too much protein can throw them off course, resulting in neurodegeneration.

After showing how mutant ATAXIN1 (the protein associated with the neurodegenerative disorder spinocerebellar ataxia 1) cannot fold and be discarded properly, resulting in malfunctioning neurons, researchers at Baylor College of Medicine have found an RNA-binding protein called PUMILIO1 that regulates ATAXIN1 levels.

Loss of PUMILIO1 activity – as when it is knocked out or lost –increases the amount of normal ATAXIN1 in the cell and, in studies of mice, causes neurodegeneration that mimics that of spinocerebellar ataxia 1.

Now, in a report that appears in the journal Cell, researchers demonstrate that an RNA-binding protein called PUMILIO1 also regulates levels of the ATAXIN1 protein. When a mouse lacks one copy of the PUMILIO1 gene, the amount of ATAXIN1 increases, starting early in development. The mouse that loses the copy or copies of PUMILIO1 develops symptoms reminiscent of spinocerebellar ataxia 1, loss of motor coordination and degeneration of Purkinje neurons in the cerebellum. Eliminating the copy of the PUMILIO1 gene in mice that already lack a copy of ATAXIN1 reduces the abnormal symptoms and rescues the animals from the disease.

The findings with PUMILIO1 demonstrate that neurons require just the right amount of the important protein – not too much and not too little.

“It shows that cells in the brain are not tolerant of too much of a normal protein,” said corresponding author Huda Zoghbi. “If we can come back and slightly decrease those proteins early in life before the system falters, we may have an effect.. For the late onset spinocerebellar ataxia 1, if we could come up with a strategy to find molecules to decrease the mutant ATAXIN1 – no more than 10 to 20 percent – we might be able to relieve the disease,” said Zoghbi.

“This could be important in the study of other neurodegenerative diseases. We don’t know what proteins are involved and what happens in diseases such as Parkinson’s, Alzheimer, amyotrophic lateral sclerosis and similar disorders,” said lead author Vincenzo Gennarino. “For these and other neurodegenerative conditions that do not fit Mendelian categories, it may prove most fruitful to find factors that elevate the levels of the key disease-driving proteins.”

Source: Baylor College of Medicine

The current policy approach to tackling dementia is socially and economically unsustainable, according to a new OECD report.

Countries need to take action now to improve the lives of people living with dementia and their carers, prioritise public research on dementia, and improve the incentives for private investment in dementia innovation.

Addressing Dementia: The OECD Response says that the human and financial costs of this incurable disease are huge. Nearly 50 million people are living with dementia worldwide, costing societies over half a trillion US dollars each year, roughly equal to the GDP of Switzerland.

Source: OECD

Genetic risk for Parkinson’s disease (PD) may be due as much to multiple genes with small individual effects as to single high-risk genes, research suggests.

Nigel Williams (Cardiff University School of Medicine, UK) and colleagues used data from five PD genome-wide association studies, involving 5333 PD cases and 12,298 controls. The team tested 259,577 single nucleotide polymorphism (SNPs) in a subset of 1705 PD cases and 6200 controls from the UK, identifying between nine and 30,157 SNPs that were significantly enriched among the PD patients, depending on the significance threshold of association used.

Applying a polygenic score based on these SNPs to two subsets of patients from the USA and one from Germany revealed significant enrichment of the SNPs identified in the UK patients in these independent cohorts.

Patients lacking single high-risk genetic mutations who nevertheless develop the condition at a young age would be expected to have an increased polygenic risk, say the researchers. “Our study has identified compelling evidence that supports this hypothesis”, they write in the Annals of Neurology.

The authors caution that “the derived polygenic scores have little value for predicting an individual’s risk of developing PD”, but add that “measures of polygenic burden could prove useful in distinguishing PD patients whose disease liability is most likely to carry the largest or smallest genetic component.”

This would therefore facilitate efforts to identify environmental risk factors and gene–environment interactions.

Source; NewsMedical.net

Researchers have the first conclusive proof that changes to lifestyle among the over-60s can slow mental decline – raising the prospects of dementia prevention programmes that cut your risk of the disease.

Findings from a two-year study of more than 1,200 60 to 77-year-olds in Finland, published in The Lancet medical journal, reveal that a group who received thorough advice about diet, regular exercise sessions, brain training and health check-ups performed better in cognitive tests than a group who received only the standard medical advice.

The results are significant, as it is believed to be the first randomised and controlled trial to conclusively demonstrate that keeping the body healthy in later life also benefits the brain. The participants will now be followed up over seven years to see if those who received the intensive healthcare intervention are less likely to develop dementia.

Overall scores in mental tests after two years were 25 per cent better in the group who received the intensive health programme. In particular areas they were even more striking. Scores for executive functioning – the brain’s ability to organise thought processes – were 83 per cent higher in the intervention group, while mental processing speeds were 150 per cent higher. All participants in the trial were judged to have a high risk of dementia at the start.

The study’s lead investigator is Miia Kivipelto of the Karolinska Instituet, Sweden, who is also the coordinator of the JPND-supported MIND-AD project which is developing multinational strategies for multi-modal preventive trials for Alzheimer’s Disease.

Source: The Independent

Apple recently announced ResearchKit, a new software framework that turns the iPhone into a powerful tool for medical research.

In conjunction with the announcement of ResearchKit, The Michael J. Fox Foundation is announcing the launch of Fox Insight, a Web-based virtual clinical study open to individuals of any age, both with and without Parkinson’s, worldwide.

The Foundation also collaborated with biotech Sage Bionetworks on the development of a new Parkinson’s mobile app called Parkinson mPower that captures data on Parkinson’s symptoms and progression as part of a clinical study. Parkinson mPower is available for download in the iTunes App Store, and the mPower study is open to all U.S. residents over age 18, with or without a diagnosis of Parkinson’s disease.

Later this year, data collected from participants who enroll in both mPower and Fox Insight will be used to validate the power of these two approaches in accelerating Parkinson’s disease research.

Watch a video by Apple to learn more about how ResearchKit and studies like mPower can help speed scientific progress toward cures by amplifying the patient voice in shaping research.

Read the press release to learn more about mPower and Fox Insight and future plans for both technologies.

Source: Michael J Fox Foundation for Parkinson’s Research