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Wellcome Trust Research Round-up – 07/07/14

7 Jul, 2014

Our fortnightly update of stories from the Wellcome Trust research community…

Diagnosis of rare genetic disorders from family snaps

computer vision_figure

Computer analysis of photographs could help doctors diagnose which condition a child with a rare genetic disorder has.

Oxford University researchers funded by the Wellcome Trust, MRC and NIHR, have come up with a computer programme that recognises facial features in photographs; looks for similarities with facial structures for various conditions, such as Down’s syndrome, Angelman syndrome, or Progeria; and returns possible matches ranked by likelihood.

Using the latest in computer vision and machine learning, the algorithm increasingly learns which facial features to pay attention to and what to ignore from a growing bank of photographs of people diagnosed with different syndromes. The research is published in eLife.

While genetic disorders are each individually rare, collectively these conditions are thought to affect 1 person in 17. Of these, a third may have symptoms that greatly reduce quality of life.

“A doctor should in future, anywhere in the world, be able to take a smartphone picture of a patient and run the computer analysis to quickly find out which genetic disorder the person might have,” says Dr Christoffer Nellåker, an author of the study.

“This objective approach could help narrow the possible diagnoses, make comparisons easier and allow doctors to come to a conclusion with more certainty.”

Complex speech networks in the brain revealed

B0003254 Brain in the form of electronic circuitryScientists at Imperial College London have succeeded in untangling some of the complex neural pathways in our brain that enable us to speak.

The findings, published in the Journal of Neuroscience, improve scientists’ understanding of how speech is organised in the brain. The disruption to these pathways may help explain difficulties in patients with stroke who have impaired speech.

Each year, more than 150,000 people in the UK suffer a stroke. Around a third of stroke patients will be left with problems with speech and language, known as aphasia.

Using MRI scanning techniques, Dr Fatemeh Geranmayeh, a Wellcome Trust Clinical Research Fellow and her team, examined a cohort of 24 healthy volunteers to identify activity in different brain networks when a person is speaking and examine how these networks work together to enable speech.

The study isolated particular networks primarily responsible for speech, but also identified other, overlapping general brain networks that are activated or suppressed during the speech process. By examining how these networks are organised in the healthy brain, the researchers believe they can have a better understanding of how they are damaged in stroke patients who have difficulty in talking and ultimately hope to improve the function of these networks – through drugs or therapy – to improve patients’ speech.

Mice may hold the key to stopping Alzheimer’s-like diseases

C0018203 Black mouse

Tiny differences in mice that make them peculiarly resistant to a family of conditions that includes Alzheimer’s, Parkinson’s and Creutzfeldt Jakob Disease may provide clues for treatments in humans.

Amyloid diseases are often incurable because drug designers cannot identify the events that cause them to start. A new Wellcome Trust-funded study, published in the journal Molecular Cell, looked to mice for a way forward.

Professor Sheena Radford, Astbury Professor of Biophysics at the University of Leeds, said: “We already knew that mice were not prone to the build up of some of these plaques. This study, for the first time, observed the building happening and saw the differences between the mice proteins and their almost identical human equivalents.”

She added: “We mixed the mouse and human proteins and found that the mice protein actually stopped the formation of the plaque-forming fibrils by the human protein.”

The research was conducted completely in vitro using human and mice beta-2 microglobulin proteins produced in the laboratory. Plaques made up of beta-2 microglobulin are associated with Dialysis Related Amyloidosis (DRA). Instead of being a neurodegenerative condition like Alzheimer’s or Parkinson’s, DRA primarily affects the joints of people on kidney dialysis.

The team observed differences in the formation of the plaque-forming fibrils in samples containing only mouse protein, samples with only the human protein and samples containing mixtures of the two.

In other news…

  • A study in Nature found that drugs, called p110δ inhibitors, currently being used to treat leukaemia, have the unexpected side-effect of boosting immune responses against many different cancers. The study was led by scientists at UCL, the Babraham Institute, and Cambridge University and funded by CRUK, BBSRC and the Wellcome Trust.
  • Summit, a drug discovery and development company, has announced the beginning of a Phase 2 trial of the antibiotic SMT19969 for the treatment of C. difficile infection. Summit has received a Translational Award from the Wellcome Trust for the development of SMT19969.
  • B0004878 DNA double helix and sequencing outputA study published in Human Molecular Genetics updates the number of human genes that can generate proteins to 19,000 – 1,700 fewer than the genes in the most recent annotation, and well below the initial estimations of 100,000 genes.  The work was carried out at the Spanish National Cancer Research Centre, as with help from a collaboration that includes Wellcome Trust Sanger Institute and the University of California, Santa Cruz.

Image credits: Christoffer Nellaker/Oxford University, Brain circuitry – Heidi Cartwright, Wellcome Images , Mouse – Wellcome Library, London, DNA – Peter Artymiuk, Wellcome Images

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