Author Archives: jpnd

According to a recent study from a team of researchers at Tel Aviv University, a mutation in a specific neuroprotective protein called ADNP has different expressions between males and females. This research adds new insights to what is currently known about the etiology of autism and Alzheimer’s disease. The results are published in the journal Translational Psychiatry.

Recent evidence suggests that ADNP has a neuroprotective effect in patients with autism spectrum disorder (ASD), and has also been found to be decreased in the serum of patients with Alzheimer’s disease (AD)

In the study entitled “Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer’s pathologies”, the research team found that the ADNP exhibits different activities in males and females, which implies that there are gender differences in the risk of developing certain diseases. While it has already been established that autism affects more males, and that Alzheimer’s disease tends to affect more females, these specific gender disparities remain minimally understood.

In a recent news release, Tel Aviv University’s Prof. Illana Gozes said, “If we understand how ADNP, an activity-related neuroprotective protein which is a major regulatory gene, acts differently in males and females, we can try to optimize drugs for potential future therapeutics to treat both autism and Alzheimer’s disease.”

Prof. Gozes and colleagues investigated gender differences in behavioral responses in mice with ADNP-altered and normal mice, to different cognitive challenges and social situations. The researchers observed learning and memory differences between female and male mice, especially in the hippocampus. The results indicate differences in ADNP expressions, which can result in ADNP-controlled autism and in genes that elevate one’s risk for Alzheimer’s disease.

“ADNP may be new to the world of autism, but I have been studying it for 15 years,” said Prof. Gozes. “Its gender-dependent expression changes male and female chemical tendencies toward different neurological disorders. Male and female mice may look the same and their brains may look the same, but they are not. When the expression of ADNP is different, it may cause different behaviors and different cognitive abilities. This study emphasizes the need to analyze men and women separately in clinical trials to find cures for diseases because they may respond differently.”

Source:  Alzheimer’s News Today

With several therapeutic approaches in development for Huntington’s disease, there is a need for easily accessible biomarkers to monitor disease progression and therapy response.

Researchers at Leiden University Medical Center in The Netherlands have discovered a panel of five genes whose expression in whole blood correlates with progression of Huntington’s disease.

In a study published in The European Journal of Human Genetics, the group reported that transcriptome analysis of 91 Huntington’s mutation carriers, about one third of whom were presymptomatic, and 33 controls yielded 167 differentially expressed genes. Twelve of the top 20 genes were validated using a different technique, and five of these proved significant in a smaller, independent cohort as well.

The authors suggest a first empiric formula predicting total motor score from the expression levels of our biomarker panel. Their data supports the view that peripheral blood is a useful source to identify biomarkers for Huntington’s disease and monitor disease progression in future clinical trials.

Since late 2014, a total of 25 JPND-supported transnational projects and working groups have begun their work to tackle the challenge of neurodegenerative diseases in a number of JPND priority areas.

JPND has now published user-friendly fact sheets of the individual projects and working groups which are supported under the following previously-launched JPND calls for research proposals.

The fact sheets are available on the particular call results page via the links above or through the “Supported Projects” section of the JPND website.

 

 

On January 26th, 2015, Switzerland joined the recently-launched ‘JPco-fuND’ call for proposals.

Researchers from Switzerland are now able to participate as external collaborators in proposals submitted to this call under all three call topics.

Specific conditions will apply and can be found on the “Specific regulations” page of the call.

Should a proposal involving a collaboration with Switzerland be recommended for funding, this collaboration will be eligible for funding by the Swiss National Science Foundation.

 

Belgian scientists have completed a study, reprogramming skin cells from three dementia patients into induced pluripotent stem cells (iPSCs) – immature cells that mimic stem cells taken from early-stage embryos. Their findings, which revealed a signalling pathway linked to frontotemporal dementia (FTD), are published in the January 13th 2015 edition of the journal, Stem Cell Reports.

Prof. Philip Van Damme, from the Leuven Research Institute for Neuroscience and Disease in Belgium, said: “Our findings suggest that signalling events required for neurodevelopment may also play major roles in neurodegeneration.

Treatment with a drug that suppressed the pathway, known as “Wnt”, restored the ability of neurons affected by the disease to develop normally. “Targeting such pathways…may result in the creation of novel therapeutic approaches for frontotemporal dementia”, Prof. Van Damme said.

The researchers found that iPSCs derived from the patients’ cells were unable to generate cortical neurons, the cell type most affected by FTD. Cortical neurons are the cells responsible for most of the brain’s complex higher activity enabling thought, perception and voluntary movement.

Co-author Dr Catherine Verfaillie, from the University of Leuven in Belgium commented that IPSC models could now be used to better understand dementia, and in particular FTD, which accounts for about half of dementia cases before the age of 60.

Source:  Alzheimer Europe

In acknowledgement of the high societal relevance of neuroscientific research, a joint transnational call on “Ethical, Legal, and Social Aspects (ELSA) of Neuroscience” was launched by the ERANET-NEURON network on January 9, 2015.

The aim of the call is to facilitate multinational, collaborative research projects that will address important questions regarding ethical, philosophical, legal and socio-cultural aspects related to neuroscientific research and recent advances in the field.

Deadline for pre-proposal submission: March 09, 2015; 14:00 CET

Source:  ERANet- Neuron

Parkinson’s disease has an insidious onset and is diagnosed when typical motor features occur. Several motor and non-motor features can occur before diagnosis, early in the disease process.

This study aimed to assess the association between first presentation of several prediagnostic features in primary care and a subsequent diagnosis of Parkinson’s disease, and to chart the timeline of these first presentations before diagnosis.

8166 individuals with a first diagnosis of Parkinson’s disease and 46755 people without Parkinson’s disease were identified from The Health Improvement Network UK primary care database.

A range of prediagnostic features such as tremor, balance impairment, constipation, depression were detected by the study several years before diagnosis of Parkinson’s disease in primary care. These data can be incorporated into ongoing efforts to identify individuals at the earliest stages of the disease for inclusion in future trials and to help understand progression in the earliest phase of Parkinson’s disease.

Source:  The Lancet

Some cases of Alzheimer’s disease progress quickly, mimicking prion-based Creutzfeldt-Jakob disease (CJD). Many people with this form of Alzheimer’s are misdiagnosed, because clinicians have no reliable way to distinguish between the two disorders.

In the January 5 JAMA Neurology, researchers led by Isabelle Quadrio at Hospices Civils de Lyon, Bron, France, propose using levels of total prion protein (t-PrP) in cerebrospinal fluid (CSF) to differentiate CJD from AD. The authors found that people with prion disease had lower CSF levels of this protein than AD patients did. In a study of 209 patients with either disorder, t-PrP classified patients much more accurately than the currently accepted biomarker, 14-3-3 protein, they report. When they combined t-PrP with CSF tau, they correctly identified 96 percent of patients with atypical, fast-progressing AD in this study, as compared with 57 percent using 14-3-3 alone.

Source:  AlzForum

The EU Joint Programme – Neurodegenerative Disease Research (JPND) in partnership with the European Commission has launched the ‘JPco-fuND’ call for proposals aimed at supporting transnational research collaborations in three JPND priority areas:

  • Longitudinal Cohort Approaches;
  • Advanced Experimental Models;
  • Risk and Protective Factors.

The call will see more than 30 million euro being made available by JPND member countries, with a 10 million euro European Commission “topping up” fund.

‘Neurodegenerative Diseases such as Alzheimer’s and Parkinson’s are a global health, economic and social emergency with numbers affected expected to double by 2030 and more than triple by 2050’ according to Professor Philippe Amouyel, Chair of the JPND Management Board. ‘With this in mind, JPND-participating countries have identified three further areas of greatest need for targeted investment in order to increase progress in the prevention and treatment of these diseases, as well as in patient care.

Professor Amouyel added ‘This call is launched as part of a major new cohesive action between JPND and the European Commission entitled JPco-fuND – the first concrete synergy between JPND and Horizon 2020 designed to address the global threat of neurodegenerative diseases’.

According to Professor Thomas Gasser, University of Tübingen and Chair of the JPND Scientific Advisory Board, ‘This call aims to pool the necessary expertise across Europe and globally to address these needs in the fight against neurodegenerative diseases. The call will support innovative, multi-disciplinary, collaborative research projects that will add value to the three research areas’.

The following neurodegenerative diseases are included for the three call topics outlined below:

  • Alzheimer’s disease and other dementias
  • Parkinson’s disease and PD‐related disorders
  • Prion diseases
  • Motor neurone diseases
  • Huntington’s disease
  • Spinocerebellar ataxia (SCA)
  • Spinal muscular atrophy (SMA)

Click here to link to the call for proposals webpage

Topic 1: Genetic, epigenetic and environmental risk and protective factors of neurodegenerative diseases

The aim of the first topic is to attract international teams of researchers who will explore the different processes at work in normal aging versus neurodegenerative aging and determine what role genetic and environmental factors can play. Factors such as family history, gender, stress levels, nutrition and others, can affect an individual’s risk, and provide protection from, or even resilience to, neurodegenerative diseases. However, it is likely that a combination of factors are involved, so a critical step will be to establish the relationship between genetic, epigenetic, environmental and social factors and their relative importance in order to identify those factors that can be changed or modified. This topic is a re-launch of the 2012 JPND call in this priority area. Details of the currently-supported JPND projects in this area are available here on the JPND website.

JPND countries participating in this topic (18) Austria, Belgium, Canada, Denmark, Finland, France, Germany, Israel, Italy, Luxembourg, The Netherlands, Norway, Portugal, Slovak Republic, Spain, Sweden, Turkey, United Kingdom

Topic 2: Longitudinal cohort approaches in neurodegenerative diseases

The goal of this topic is to further scientific progress at a transnational level by enhancing the capabilities of existing cohort studies, or by linking related cohort studies in a synergistic way. This may include bringing together well-characterised relevant cohort groups to harmonize, or make accessible, data to promote secondary analysis; adding new measurements, sample collections or data sweeps that add significant value or provide linkage to other studies; establishing novel assessment measures, taking advantage of new technologies, extending beyond the cognitive domain (i.e. motor and perceptual function) that can be applied to the broad spectrum of neurodegenerative diseases; delivering methodological developments or enhancements to establish cohorts as intervention platforms.

JPND countries participating in this topic (19) Austria, Belgium, Canada, Denmark, Finland, France, Germany, Israel, Italy, Luxembourg, The Netherlands, Norway, Poland, Portugal, Romania, Spain, Sweden, Turkey, United Kingdom

Topic 3: Advanced animal or cell experimental models of neurodegenerative diseases This topic aims to support the creation of experimental models that are more predictive of neurodegenerative diseases. This is a key barrier to progress in research as most of the current models are unable to take into account the multiple genetic and environmental factors that lead to the development of these diseases. However, in order to reproduce the complexity of these diseases there is a need for consensus in validating the platforms to be provided, which can only be achieved through a multidisciplinary approach that encompasses the best teams in a collaborative effort at a transnational level. Therefore, this topic encourages the implementation of a next generation of reliable and well characterized animal and cell models for neurodegenerative diseases. This may include the development of novel animal models for specific diseases to better reproduce the complexity of the clinical features of the disease in humans, the enhancement of existing animal models, e.g., by fostering a deeper characterization of the phenotypes and pathologies, and the exploitation of novel or the improvement of existing neuronal, neuronal-like cells or inducible pluripotent stem (iPS) cells, generated from different sources.

JPND countries participating in this topic (18) Austria, Belgium, Denmark, Finland, France, Germany, Israel, Italy, Luxembourg, The Netherlands, Norway, Poland, Portugal, Romania, Slovak Republic, Spain, Sweden, Turkey

Note 1: The call has a two-step procedure, with a first stage (pre-proposal submission) deadline of 23:59h C.E.T. on March 10th 2015.

Note 2: Proposals may cover more than one of the topics specified above, as long as the relevant work is carried out in a country that will financially support the topic. The balance of awards between the three topics will be decided by the Peer Review Panel and will depend on the quality of the applications. More information on the participating countries in each topic, in addition to specific grant practicalities is available on the call for proposals page here.

Note 3: Call applicants are encouraged to take advantage of the JPND online partnering tool to showcase their research group’s expertise, search for appropriate partners and pitch call-related ideas. An improved, multi-lingual version of the pilot tool is available on the JPND website here.

Note 4: This project has received funding from the European Union’s Horizon 2020 research and innovation programme under Grant Agreement No. 643417 – JPcofuND.

The personal genetics company 23andMe, Inc. has announced an agreement with Genentech, a member of the Roche Group, to generate whole genome sequencing data for approximately 3,000 people in 23andMe’s Parkinson’s disease community. The goal of the collaboration is to identify new therapeutic targets for treating Parkinson’s disease.

Source: 23andMe (Press Release)