Yearly Archives: 2013

Diseases include ALS and a form of dementia called IBMPFD

Single mutations in one gene rarely cause different diseases. New research, published in the journal Neuron, gives insight into how single mutations in the VCP gene cause a range of neurological conditions including the motor neuron disease Amyotrophic Lateral Sclerosis (ALS) and a form of dementia called Inclusion Body Myopathy, Paget's Disease of the Bone and Frontotemporal Dementia (IBMPFD) 

This study shows that these mutations disrupt energy production in cells shedding new light on the role of VCP in these multiple disorders.  

Leading experts in neurodegeneration research met in Dublin on March 1st to discuss future research directions and opportunities to collaborate internationally.

In association with Irish representatives from the JPND Management Board, a scientific session was organised on March 1st, 2013, between prominent Irish researchers in the neurodegenerative disease field and JPND representatives. 

The meeting was co-organised by JPND, the Health Research Board and Science Foundation Ireland to capitalise on the visit to Dublin of the JPND Chair, Philippe Amouyel, as part of theIrish presidency conference on Joint Programming. 

An overview of the latest developments in basic and clinical research in Ireland and internationally was presented, with a selection of leading Irish researchers showcasing their most recent findings.
 
Other JPND representatives at the session included:

  • Scientific Advisory Board – Prof. Philip Scheltens, VU Medical Center, The Netherlands
  • Steering Committee – Dr Rob Buckle, Medical Research Council, UK
  • Executive Board – Mr. Enda Connolly, Health Research Board

The programme for the meeting is available for download at the link below: 

Genome-wide imaging study identifies a new gene called BCHE, found to be associated with Alzheimer's plaques

The is the first genome-wide association study of plaque deposits using a specialized PET scan tracer that binds to amyloid – florbetapir.  This imaging tracer allows physicians to see the level of plaque buildup in a patient's brain, something that previously could be determined only with an autopsy.
 
The researchers conducted PET scans of 555 participants in theAlzheimer's Disease Neuroimaging Initiative, a long-term public-private research project that includes people at risk for Alzheimer's disease and patients who have been diagnosed with the disease as well as participants with no symptoms.
  
The analysis found that a variant in BCHE was significantly associated with the levels of plaque deposits.

More information available in the link below:

UK’s leading dementia research charity has launched a new research strategy dedicated to driving forward development of treatments.

This strategic approach to research into dementia has four core components:

  • Responsive and Targeted Funding
  • New Drug Discovery
  • Strategic Projects
  • Partnerships

More information is available at the link below:

Chair Philippe Amouyel to speak at plenary session

A Joint Programming Conference entitled “Agenda for the Future & Achievements to Date” is taking place in Dublin on the 28th February-1st March 2013, under the Irish Presidency of the Council of the European Union, with support from the European Commission.

The Conference will bring together 500 delegates from more than 40 countries, and will look to provide lessons from the JPI experience to date and the way forward in Joint Programming.

JPND is heavily represented on the conference programme, with Chair Philippe Amouyel to speak at the first plenary session.

Clickhere or at the link below for the conference programme

The JPND presentations are availablehere or at the second link below.

Click here for photos from the event

Inappropriate long-term use of antipsychotic drugs is common among people with dementia living in specialized care units

This study investigated use of antipsychotic drug therapy for the treatment of behavioural and psychological symptoms of dementia (BPSD) among 344 people with dementia living in 40 specialised care units in Sweden. 

The authors conclude that prevalence of antipsychotic drug use among people with dementia in specialised care units was high and that inappropriate long-term use of antipsychotic drugs was common; despite their limited efficacy and concerns about the safety of antipsychotic drugs.

More information in the link below:

Deep brain stimulation may provide many additional years of good functioning for carefully chosen, highly functioning patients.

Results from an international clinical trial, published in the February 14 issue of the New England Journal of Medicine suggests that deep-brain stimulation (DBS) can help at the early stages of Parkinson's Disease —before motor complications get out of control.

In a two-year trial of 251 PD patients, those who received brain implants had fewer motor symptoms, better quality of life, and similar rates of adverse events as participants receiving medical therapy alone.

More information and commentary is available in the links below: 

"Brain Activity Map project" is expected to be part of the president’s budget proposal next month.

The front page of the New York Times on February 18th, 2013 revealed the Obama Administration may soon seek billions of dollars from Congress to map the human brain, in an ambitious project many have claimed will do for neuroscience what the Human Genome Project has done for genetics.

The Obama initiative is different from therecently announced European project  to build a silicon-based “brain” - a supercomputer simulation using the best research about the inner workings of the brain.

More information in the links below:

Major advance in genetic study of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD)

The major genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) was identified by researchers in 2011.  A mutation known as a repeat expansion in an intron of the C9ORF72 gene was found to be the most important genetic risk factor for these disorders.  Most healthy people have 25 or fewer copies of the repeat, whereas mutation carriers can have 700 copies or more. The mutation explains roughly half of familial ALS cases and about a quarter of inherited FTLD, as well as some sporadic cases. However, scientists have since puzzled over how that mutation promotes disease.

Researchers in Germany report in Science the surprising news that the intron expansions are translated into proteins. Being an expanded hexanucleotide repeat in an intron (i.e., non-coding region of DNA) the mutation should not affect the protein sequence.  However, researchers found that the translated proteins contain dipeptide repeats and aggregate into deposits found in the neurons of mutation carriers, but not in people with other types of ALS/FTLD.

The discovery suggests that these dipeptide repeat proteins are major pathological players in a subset of ALS/FTLD patients. Scientists in the field hailed the findings as a major advance.

After a two-year contest, the European Commission has selected two research proposals that it will fund to the tune of half-a-billion euros each.

The Human Brain Project, led by Henry Markram, a neuroscientist at the Swiss Federal Institute of Technology in Lausanne, plans to use a supercomputer to recreate everything known about the human brain