Genetic Dissection of Neuromuscular Disorders
Lead Research Organisation:
University College London
Department Name: Institute of Neurology
Abstract
Peripheral neuropathy is common, affecting approximately 2.5% of the UK population. When inherited in a family the condition is usually called Charcot-Marie-Tooth disease (CMT) and is one of the commonest inherited neurological disorders affecting 1 in 2500 people.
CMT usually starts in childhood or teenage years with progressive distal limb weakness, muscle wasting and glove and stocking sensory loss. Walking problems and foot deformities are common requiring ankle or leg supports, sticks and later wheelchair use. Many patients develop complications such as pain, degeneration of the joints, scoliosis and limb ulcers. There is no effective treatment available. CMT can essentially be divided into type 1 (CMT1) that affects the nerve myelin sheath or type 2 (CMT2) that affects the nerve axon. The motor form of CMT is called distal hereditary motor neuropathy (HMN) and the sensory form hereditary sensory and autonomic neuropathy (HSAN). There a number of genes that when defective, can cause CMT. The majority have been identified in CMT1, few genes in only a small proportion of cases have been found in the other types of CMT. Around 40% of CMT patients remain genetically unknown.
Next generation sequencing technology has transformed our ability to identify disease genes. Mutations in the protein encoding exons of genes account for most of human genetic diseases. We can now use revolutionary enrichment methods to select all the exons to sequence in an individual (exome) using this technology. In our laboratory we have established an effective exome sequencing pipeline which is perfectly suited to CMT gene identification, in small families or groups of patients with very similar phenotypes.
We propose an unprecedented gene discovery effort to identify and characterise a large proportion of the unknown CMT genes. We will focus on exome sequencing 100 CMT families, divided between CMT1, CMT2, distal HMN and HSAN. We expect to identify a number of disease genes, prove these defects and examine our entire series of CMT patients. Many genetic defects will require studies on other patient material such as fresh blood to prove the mutation mechanism. To further analyse the function of the CMT genes identified we have established a number of fruitful collaborations. We expect genes to cluster into pathways that are important for peripheral nerve homeostasis and when defective lead to nerve degeneration. Through the identification of these processes we hope to reveal treatment targets that will be promising candidates for therapeutic drug trials.
CMT usually starts in childhood or teenage years with progressive distal limb weakness, muscle wasting and glove and stocking sensory loss. Walking problems and foot deformities are common requiring ankle or leg supports, sticks and later wheelchair use. Many patients develop complications such as pain, degeneration of the joints, scoliosis and limb ulcers. There is no effective treatment available. CMT can essentially be divided into type 1 (CMT1) that affects the nerve myelin sheath or type 2 (CMT2) that affects the nerve axon. The motor form of CMT is called distal hereditary motor neuropathy (HMN) and the sensory form hereditary sensory and autonomic neuropathy (HSAN). There a number of genes that when defective, can cause CMT. The majority have been identified in CMT1, few genes in only a small proportion of cases have been found in the other types of CMT. Around 40% of CMT patients remain genetically unknown.
Next generation sequencing technology has transformed our ability to identify disease genes. Mutations in the protein encoding exons of genes account for most of human genetic diseases. We can now use revolutionary enrichment methods to select all the exons to sequence in an individual (exome) using this technology. In our laboratory we have established an effective exome sequencing pipeline which is perfectly suited to CMT gene identification, in small families or groups of patients with very similar phenotypes.
We propose an unprecedented gene discovery effort to identify and characterise a large proportion of the unknown CMT genes. We will focus on exome sequencing 100 CMT families, divided between CMT1, CMT2, distal HMN and HSAN. We expect to identify a number of disease genes, prove these defects and examine our entire series of CMT patients. Many genetic defects will require studies on other patient material such as fresh blood to prove the mutation mechanism. To further analyse the function of the CMT genes identified we have established a number of fruitful collaborations. We expect genes to cluster into pathways that are important for peripheral nerve homeostasis and when defective lead to nerve degeneration. Through the identification of these processes we hope to reveal treatment targets that will be promising candidates for therapeutic drug trials.
Technical Summary
Peripheral neuropathy is common, affecting approximately 2.5% of the UK population. Inherited neuropathy is usually called Charcot-Marie-Tooth disease (CMT) and is one of the commonest inherited neurological disorders affecting 1 in 2500 people.
CMT usually starts in childhood or teenage years with progressive distal limb weakness, muscle wasting and glove and stocking sensory loss. Walking problems and foot deformities are common requiring orthoses, sticks and later wheelchair use. CMT is genetically heterogeneous with over 30 genes identified that have revealing important biological insights into the pathophysiology of the peripheral nervous system. The majority of genes have been identified in the demyelinating form of CMT (type 1), few genes in only a small proportion of cases have been found in the other types of CMT. After excluding the known genes, around 40% of CMT patients remain genetically undefined.
Here we propose an unprecedented gene discovery effort to identify and characterise a large proportion of the unknown CMT genes. In the past we have been limited by the sequencing technology and the size of families, however, we can now perform whole exome sequencing of all protein encoding regions (exome) and flanking intron boundaries from enriched patient DNA samples. In our laboratory we have established next generation sequencing developing an effective exome sequencing pipeline that has so far, identified one novel disease gene. This method is perfectly suited to CMT gene identification, in small families or groups of patients with very similar phenotypes.
Whole exome sequencing will be performed in 100 CMT families. Half the families will be dominant and half recessive, divided between CMT1, CMT2, distal HMN and HSAN. In dominant families two individuals will be sequenced and in the recessives one. After thorough filtering and bioinformatic analysis we expect to identify a number of disease genes, prove these defects in families and then examine our extensive CMT database of cases to assess frequency, mutation spectrum and phenotype correlations. Many genetic defects will require protein and/or RNA studies from patient material to prove the mutation mechanism. True functional analysis is beyond the scope of this proposal but we have established a number of fruitful collaborations that have allowed the successful investigation of CMT genes. We expect these genes to cluster into pathways that are important for peripheral nerve homeostasis and when defective lead to nerve degeneration. Through the identification of these processes the hope must be that treatment targets will become apparent.
CMT usually starts in childhood or teenage years with progressive distal limb weakness, muscle wasting and glove and stocking sensory loss. Walking problems and foot deformities are common requiring orthoses, sticks and later wheelchair use. CMT is genetically heterogeneous with over 30 genes identified that have revealing important biological insights into the pathophysiology of the peripheral nervous system. The majority of genes have been identified in the demyelinating form of CMT (type 1), few genes in only a small proportion of cases have been found in the other types of CMT. After excluding the known genes, around 40% of CMT patients remain genetically undefined.
Here we propose an unprecedented gene discovery effort to identify and characterise a large proportion of the unknown CMT genes. In the past we have been limited by the sequencing technology and the size of families, however, we can now perform whole exome sequencing of all protein encoding regions (exome) and flanking intron boundaries from enriched patient DNA samples. In our laboratory we have established next generation sequencing developing an effective exome sequencing pipeline that has so far, identified one novel disease gene. This method is perfectly suited to CMT gene identification, in small families or groups of patients with very similar phenotypes.
Whole exome sequencing will be performed in 100 CMT families. Half the families will be dominant and half recessive, divided between CMT1, CMT2, distal HMN and HSAN. In dominant families two individuals will be sequenced and in the recessives one. After thorough filtering and bioinformatic analysis we expect to identify a number of disease genes, prove these defects in families and then examine our extensive CMT database of cases to assess frequency, mutation spectrum and phenotype correlations. Many genetic defects will require protein and/or RNA studies from patient material to prove the mutation mechanism. True functional analysis is beyond the scope of this proposal but we have established a number of fruitful collaborations that have allowed the successful investigation of CMT genes. We expect these genes to cluster into pathways that are important for peripheral nerve homeostasis and when defective lead to nerve degeneration. Through the identification of these processes the hope must be that treatment targets will become apparent.
Organisations
- University College London, United Kingdom (Collaboration, Lead Research Organisation)
- Sakhalin State University (Collaboration)
- Ataxia UK (Collaboration)
- University of Tehran (Collaboration)
- University of Sydney, Australia (Collaboration)
- National Organization for Rare Disorders (NORD) (Collaboration)
- Wayne State University, United States (Collaboration)
- British Medical Association (BMA) (Collaboration)
- Medical Research Council (Collaboration)
- National Institutes of Health, United States (Collaboration)
- University of Cambridge (Collaboration)
- Sanford Heart Hospital (Collaboration)
- Genomics England (Collaboration)
- University of Pennsylvania, United States (Collaboration)
- Great Ormond Street Hospital (GOSH) (Collaboration)
- University of Thessaly (Collaboration)
- Sarah Matheson Trust for MSA (Collaboration)
- Partnership for Advanced Computing in Europe (PRACE) (Collaboration)
- National and Kapodistrian University of Athens (Collaboration)
- European Commission, Belgium (Collaboration)
- Eberhard Karls University Tuebingen, Germany (Collaboration)
Publications
Ling H
(2017)
Mixed pathologies including chronic traumatic encephalopathy account for dementia in retired association football (soccer) players.
in Acta neuropathologica
Kiely AP
(2013)
a-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?
in Acta neuropathologica
Houlden H
(2012)
The genetics and neuropathology of Parkinson's disease.
in Acta neuropathologica
Ling H
(2014)
Concomitant progressive supranuclear palsy and chronic traumatic encephalopathy in a boxer.
in Acta neuropathologica communications
Boizot A
(2014)
The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.
in Acta neuropathologica communications
Paudel R
(2014)
Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions.
in Acta neuropathologica communications
Paudel R
(2015)
Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy.
in Acta neuropathologica communications
Perez-Rodriguez D
(2019)
Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.
in Acta neuropathologica communications
Kruer MC
(2012)
Neuroimaging features of neurodegeneration with brain iron accumulation.
in AJNR. American journal of neuroradiology
Jun GR
(2017)
Transethnic genome-wide scan identifies novel Alzheimer's disease loci.
in Alzheimer's & dementia : the journal of the Alzheimer's Association
Sjödin S
(2019)
Endo-lysosomal proteins and ubiquitin CSF concentrations in Alzheimer's and Parkinson's disease.
in Alzheimer's research & therapy
Mencacci NE
(2016)
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions.
in American journal of human genetics
Oates EC
(2013)
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
in American journal of human genetics
Dusi S
(2014)
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.
in American journal of human genetics
Chelban V
(2017)
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
in American journal of human genetics
Rivière JB
(2011)
KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
in American journal of human genetics
Rebelo AP
(2016)
Cryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal Neuropathy.
in American journal of human genetics
Beck J
(2013)
Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.
in American journal of human genetics
Thomas AC
(2014)
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.
in American journal of human genetics
Hammer MB
(2013)
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.
in American journal of human genetics
Vandervore LV
(2019)
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
in American journal of human genetics
Cottenie E
(2014)
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2.
in American journal of human genetics
Sumner CJ
(2013)
A dominant mutation in FBXO38 causes distal spinal muscular atrophy with calf predominance.
in American journal of human genetics
Madeo M
(2016)
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.
in American journal of human genetics
Haack TB
(2012)
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.
in American journal of human genetics
Dias CM
(2019)
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
in American journal of human genetics
Cleeter M
(2011)
Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.
in Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases
Salpietro V
(2017)
Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.
in Annals of neurology
Balint B
(2016)
PKD or Not PKD: That is the question.
in Annals of neurology
Leonenko G
(2019)
Genetic risk for alzheimer disease is distinct from genetic risk for amyloid deposition.
in Annals of neurology
Hersheson J
(2013)
Mutations in the autoregulatory domain of ß-tubulin 4a cause hereditary dystonia.
in Annals of neurology
Bettencourt C
(2016)
DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases.
in Annals of neurology
Manole A
(2017)
De novo KCNA2 mutations cause hereditary spastic paraplegia.
in Annals of neurology
Kruer MC
(2013)
Mutations in ? adducin are associated with inherited cerebral palsy.
in Annals of neurology
Banerjee G
(2019)
Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura.
in Annals of neurology
Lane CA
(2017)
Study protocol: Insight 46 - a neuroscience sub-study of the MRC National Survey of Health and Development.
in BMC neurology
Hardy J
(2017)
Alzheimer's disease: where next for anti-amyloid therapies?
in Brain : a journal of neurology
Foley AR
(2014)
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
in Brain : a journal of neurology
Siitonen M
(2017)
Multi-infarct dementia of Swedish type is caused by a 3'UTR mutation of COL4A1.
in Brain : a journal of neurology
Baets J
(2015)
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
in Brain : a journal of neurology
Houlden H
(2013)
Defective N-linked protein glycosylation pathway in congenital myasthenic syndromes.
in Brain : a journal of neurology
Koutsis G
(2012)
Novel peripheral myelin protein 22 (PMP22) micromutations associated with variable phenotypes in Greek patients with Charcot-Marie-Tooth disease.
in Brain : a journal of neurology
Johnson JO
(2012)
Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease.
in Brain : a journal of neurology
Hayflick SJ
(2013)
ß-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.
in Brain : a journal of neurology
Lynch DS
(2017)
Clinical and genetic characterization of leukoencephalopathies in adults.
in Brain : a journal of neurology
Mencacci NE
(2014)
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
in Brain : a journal of neurology
Zollo M
(2017)
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
in Brain : a journal of neurology
Gardiner AR
(2015)
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
in Brain : a journal of neurology
Pihlstrøm L
(2018)
Lysosomal storage disorder gene variants in multiple system atrophy.
in Brain : a journal of neurology
| Description | Improved and larger range of neurogenetic tests |
| Geographic Reach | National |
| Policy Influence Type | Influenced training of practitioners or researchers |
| Impact | Improved and larger range of neurogenetic tests. This leads to greater research and a better service for patients |
| Description | BMA project grant |
| Amount | £21,000 (GBP) |
| Organisation | British Medical Association (BMA) |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 01/2007 |
| End | 01/2010 |
| Description | CRBC project grant/CRBC |
| Amount | £98,000 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 06/2009 |
| End | 05/2011 |
| Description | Clinical Trial |
| Amount | $214,235 (USD) |
| Organisation | Food and Drug Administration (FDA) |
| Sector | Public |
| Country | United States |
| Start | 01/2018 |
| End | 12/2021 |
| Description | Equipment award Wellcome Trust |
| Amount | £661,363 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2011 |
| End | 07/2016 |
| Description | Lily-Stoneygate Research Awards Programme |
| Amount | £83,686 (GBP) |
| Organisation | The Lily Foundation |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2017 |
| End | 10/2018 |
| Description | MRC Project Grant |
| Amount | £522,000 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 01/2011 |
| End | 01/2015 |
| Description | MRC Research Grant (The Pathophysiology of Spinocerebellar degeneration) |
| Amount | £1,600,000 (GBP) |
| Funding ID | G0802760 |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | 02/2010 |
| End | 01/2015 |
| Description | MYOPROSP Consortium |
| Amount | £66,301 (GBP) |
| Organisation | Medical Research Council (MRC) |
| Sector | Public |
| Country | United Kingdom |
| Start | |
| Description | Neuromuscular Disease Theme |
| Amount | £398,514 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 06/2017 |
| End | 05/2021 |
| Description | PhD studentship to work on IBM and neuromuscular disorders from the Saudi Government |
| Amount | £150,000 (GBP) |
| Organisation | Government of Saudi Arabia |
| Sector | Public |
| Country | Saudi Arabia |
| Start | 09/2016 |
| End | 09/2020 |
| Description | Research Grant |
| Amount | £146,520 (GBP) |
| Organisation | Muscular Dystrophy UK |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 09/2017 |
| End | 08/2019 |
| Description | Solve-RD |
| Amount | € 20,000 (EUR) |
| Funding ID | 779257 |
| Organisation | European Union |
| Sector | Public |
| Country | European Union (EU) |
| Start | 01/2018 |
| End | 12/2022 |
| Description | UCL CBRC equipment grant |
| Amount | £339,000 (GBP) |
| Organisation | National Institute for Health Research |
| Department | UCLH/UCL Biomedical Research Centre |
| Sector | Academic/University |
| Country | United Kingdom |
| Start | 08/2011 |
| End | 08/2016 |
| Description | Wellcome Trust Equipment Grant |
| Amount | £661,363 (GBP) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 08/2011 |
| End | 08/2016 |
| Description | Wellcome Trust Strategic Award |
| Amount | £980,000 (GBP) |
| Funding ID | The Wellcome Trust (equipment and the Synaptopathies strategic award (104033/z/14/z) |
| Organisation | Wellcome Trust |
| Sector | Charity/Non Profit |
| Country | United Kingdom |
| Start | 05/2015 |
| End | 04/2020 |
| Title | Genome sequencing and GeCIP |
| Description | Genome sequencing and GeCIP |
| Type Of Material | Technology assay or reagent |
| Year Produced | 2015 |
| Provided To Others? | Yes |
| Impact | Genome sequencing and GeCIP |
| URL | http://www.genomicsengland.co.uk |
| Title | Muscle international registry and biobank |
| Description | Muscle international registry and biobank |
| Type Of Material | Database/Collection of Data/Biological Samples |
| Year Produced | 2013 |
| Provided To Others? | Yes |
| Impact | Muscle international registry and biobank |
| Title | Synaptopathies collaboration |
| Description | Synaptopathies collaboration |
| Type Of Material | Biological samples |
| Year Produced | 2015 |
| Provided To Others? | Yes |
| Impact | Synaptopathies collaboration |
| Title | SOLVE-RD, Coriell, Neurobiobank database of samples, tissue |
| Description | SOLVE-RD, Coriell, Neurobiobank database of samples, tissue: all anonymous Important for genetics and analysis |
| Type Of Material | Database/Collection of data |
| Provided To Others? | No |
| Impact | SOLVE-RD, Coriell, Neurobiobank database of samples, tissue: all anonymous Important for genetics and analysis |
| Title | Synaptopathies collaboration |
| Description | Synaptopathies collaboration |
| Type Of Material | Database/Collection of data |
| Year Produced | 2015 |
| Provided To Others? | Yes |
| Impact | Synaptopathies collaboration |
| Description | Ataxia UK |
| Organisation | Ataxia UK |
| Country | United Kingdom |
| Sector | Charity/Non Profit |
| PI Contribution | Information and genetic analysis of patients |
| Collaborator Contribution | Made members aware of our work, identified patients and families |
| Impact | Publications, made UK patients with Ataxia more aware |
| Start Year | 2006 |
| Description | Athens collaboration on ataxia and neuropathy |
| Organisation | National and Kapodistrian University of Athens |
| Department | Neurology Athens |
| Country | Greece |
| Sector | Academic/University |
| PI Contribution | Large Greek study on ataxia and neuropathy in Greece |
| Impact | Large Greek study on ataxia and neuropathy in Greece |
| Start Year | 2010 |
| Description | BMA |
| Organisation | British Medical Association (BMA) |
| Country | United Kingdom |
| Sector | Charity/Non Profit |
| PI Contribution | Funding and publication |
| Collaborator Contribution | Funding and good press for our research |
| Impact | Funding and publication |
| Start Year | 2007 |
| Description | Cambridge collaboration on Dog ataxia and neuropathy. |
| Organisation | University of Cambridge |
| Department | Department of Veterinary Medicine |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Cambridge collaboration on Dog ataxia and neuropathy. We are working on the genetics of neuropathy and ataxia in dog models of human disease |
| Collaborator Contribution | Dog tissue |
| Impact | Ongoing work |
| Start Year | 2010 |
| Description | Childhood Motor Neuron Disease consortium |
| Organisation | Great Ormond Street Hospital (GOSH) |
| Department | Department of Neurology |
| Country | United Kingdom |
| Sector | Hospitals |
| PI Contribution | Collaborative group that have collected clinical details, cells, DNA and treatment responses on Childhood Motor Neuron Disease |
| Collaborator Contribution | Collaborators have provided clinical details, cells, DNA for exome sequencing and gene identification |
| Impact | A number of DNA samples and fibroblasts collected |
| Start Year | 2011 |
| Description | Childhood Motor Neuron Disease consortium |
| Organisation | University of Pennsylvania |
| Department | Department of Neurology |
| Country | United States |
| Sector | Academic/University |
| PI Contribution | Collaborative group that have collected clinical details, cells, DNA and treatment responses on Childhood Motor Neuron Disease |
| Collaborator Contribution | Collaborators have provided clinical details, cells, DNA for exome sequencing and gene identification |
| Impact | A number of DNA samples and fibroblasts collected |
| Start Year | 2011 |
| Description | Childhood Motor Neuron Disease consortium |
| Organisation | University of Sydney |
| Department | Brain and Mind Research Institute |
| Country | Australia |
| Sector | Academic/University |
| PI Contribution | Collaborative group that have collected clinical details, cells, DNA and treatment responses on Childhood Motor Neuron Disease |
| Collaborator Contribution | Collaborators have provided clinical details, cells, DNA for exome sequencing and gene identification |
| Impact | A number of DNA samples and fibroblasts collected |
| Start Year | 2011 |
| Description | EUROSCA |
| Organisation | European Commission |
| Department | EC FP6 Collaborative Projects |
| Country | European Union (EU) |
| Sector | Academic/University |
| PI Contribution | Identification, screening and functional characterization of ataxia genes |
| Collaborator Contribution | EUROSCA is a collaboration between researchers and clinicians working on ataxia. These has brought cases and techniques that have benefited my research. |
| Impact | Publications as already give. Patients and clinical details of cases with ataxia |
| Start Year | 2006 |
| Description | European Brain Bank Network |
| Organisation | Medical Research Council (MRC) |
| Department | MRC UK Brain Banks Network |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | Brain tissue for our research |
| Collaborator Contribution | Brain tissue for research |
| Impact | Brain tissue for our research |
| Start Year | 2006 |
| Description | European and American Brain Bank Network |
| Organisation | Medical Research Council (MRC) |
| Department | MRC UK Brain Banks Network |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | This collaboration has given valuable patient brain tissue to our research |
| Collaborator Contribution | Collaborated with tissus |
| Impact | Publications and the addition of important tissue resources |
| Start Year | 2006 |
| Description | Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead) |
| Organisation | Genomics England |
| Country | United Kingdom |
| Sector | Public |
| PI Contribution | Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead) |
| Collaborator Contribution | Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead) |
| Impact | Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead) |
| Start Year | 2015 |
| Description | Genomics England collaboration on new disease genes and risk factors |
| Organisation | Genomics England |
| Country | United Kingdom |
| Sector | Public |
| PI Contribution | Collaboration on disease genomes |
| Collaborator Contribution | Collaboration on disease genomes |
| Impact | See publications in high impact journals such as Nature Genetics |
| Start Year | 2019 |
| Description | Greek Collaboration on neurogenetics - Athens, Thessaloniki and Larisa |
| Organisation | National and Kapodistrian University of Athens |
| Department | Neurology Athens |
| Country | Greece |
| Sector | Academic/University |
| PI Contribution | Greek Collaboration on neurogenetics - Athens, Thessaloniki and Larisa Sharing of DNA and clinical details on series and families |
| Collaborator Contribution | Greek Collaboration on neurogenetics - Athens, Thessaloniki and Larisa Sharing of DNA and clinical details on series and families |
| Impact | Sharing of families and data |
| Start Year | 2011 |
| Description | Laboratory of Neurogenetics, NIA |
| Organisation | National Institutes of Health (NIH) |
| Department | National Institute on Aging |
| Country | United States |
| Sector | Public |
| PI Contribution | Collaborating on techniques such as developing DNA arrays and exome sequencing in our lab |
| Collaborator Contribution | Collaboration on techniques and patients |
| Impact | Joint publications and techniques |
| Start Year | 2006 |
| Description | Laboratory of Neurogenetics, NIA and NIH, USA |
| Organisation | National Institutes of Health (NIH) |
| Department | National Institute on Aging |
| Country | United States |
| Sector | Public |
| PI Contribution | Data, cases, publications |
| Collaborator Contribution | Sharing of data, cases and techniquesData and publications |
| Impact | Publications, assistance with grants |
| Description | Laboratory of Neurogenetics, NIA and NIH, USA |
| Organisation | National Institutes of Health (NIH) |
| Department | National Institute on Aging |
| Country | United States |
| Sector | Public |
| PI Contribution | Data, cases, publications |
| Collaborator Contribution | Sharing of data, cases and techniquesData and publications |
| Impact | Publications, assistance with grants |
| Description | Larisa Greek parkinsonism study |
| Organisation | University of Thessaly |
| Department | Neurology Thessaly |
| Country | Greece |
| Sector | Academic/University |
| PI Contribution | Larisa Greek parkinsonism study. Over 1200 Greek parkinsonian patients and controls collected and DNA extracted |
| Impact | Over 1200 Greek parkinsonian patients and controls collected and DNA extracted. Work ongoing, GWAS underway |
| Start Year | 2010 |
| Description | MRC Centre for Neuromuscular Diseases |
| Organisation | University College London |
| Department | MRC Centre for Neuromuscular Diseases |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | The MRC Centre for Neuromuscular Diseases is an MRC funded centre set up to investigate the causes and identify treatments for neuromuscular diseases. |
| Collaborator Contribution | The MRC Centre for Neuromuscular Diseases is an MRC funded centre set up to investigate the causes and identify treatments for neuromuscular diseases. I am a member and collaborator in the The MRC Centre for Neuromuscular Diseases. |
| Impact | The MRC Centre for Neuromuscular Diseases is an MRC funded centre set up to investigate the causes and identify treatments for neuromuscular diseases. I am a member and collaborator in the The MRC Centre for Neuromuscular Diseases. |
| Start Year | 2006 |
| Description | MRC NMC |
| Organisation | University College London |
| Department | MRC Centre for Neuromuscular Diseases |
| Country | United Kingdom |
| Sector | Academic/University |
| PI Contribution | I am a member of the MRC Centre for Neuromuscular Diseases which has brought in very important collaborations between myself and Mike Hanna and Mary Reilly. We have generated considerable data, patient information and publications. |
| Collaborator Contribution | I am a member of the MRC Centre for Neuromuscular Diseases which has brought in very important collaborations between myself and Mike Hanna and Mary Reilly. We have generated considerable data, patient information and publications. |
| Impact | I am a member of the MRC Centre for Neuromuscular Diseases which has brought in very important collaborations between myself and Mike Hanna and Mary Reilly. We have generated considerable data, patient information and publications. |
| Start Year | 2008 |
| Description | MSA Trust |
| Organisation | Sarah Matheson Trust for MSA |
| Country | United Kingdom |
| Sector | Charity/Non Profit |
| PI Contribution | Data, tours of the lab, newsletter information |
| Collaborator Contribution | Patients, we write a research update in the newletter, many patients have given blood and donated their brain as a result of the research |
| Impact | Publications, data, tours of the lab, newsletter information |
| Start Year | 2006 |
| Description | NORD |
| Organisation | National Organization for Rare Disorders (NORD) |
| Country | United States |
| Sector | Charity/Non Profit |
| PI Contribution | Patient's referred and a grant |
| Collaborator Contribution | Patient's referred and a grant |
| Impact | Patient's referred and a grant |
| Start Year | 2008 |
| Description | Neuromics FP7 collaboration |
| Organisation | European Commission |
| Department | Seventh Framework Programme (FP7) |
| Country | European Union (EU) |
| Sector | Public |
| PI Contribution | Neuromics FP7 collaboration where we received funding for a post-doc (to prof hanna) and also funding for sequencing. There was significant collaboration and added value from this collaboration with shared results and materials |
| Collaborator Contribution | Shared results and materials - genome/exome sequencing, functional data and patient materials |
| Impact | Publications, collaboration and preparation for other rare disease grants |
| Start Year | 2012 |
| Description | Neuromics neurogenetics collaboration |
| Organisation | Eberhard Karls University of Tübingen |
| Department | Neuromics |
| Country | Germany |
| Sector | Academic/University |
| PI Contribution | We are the channelopathy and ataxia part of the collaboration. Our role is exome sequencing, genetics and expression |
| Collaborator Contribution | Groups working on several areas of genetics |
| Impact | Recently started |
| Start Year | 2012 |
| Description | PENN collaboration on Dog ataxia and neuropathy |
| Organisation | University of Pennsylvania |
| Department | School of Veterinary Medicine (UPenn) |
| Country | United States |
| Sector | Academic/University |
| PI Contribution | PENN collaboration on Dog ataxia and neuropathy. We are working on the genetics of neuropathy and ataxia in dog models of human disease |
| Collaborator Contribution | Provided tissue and clinical details |
| Impact | Joint grant submitted to NIH |
| Start Year | 2010 |
| Description | Sakhalin Universitycollaboration |
| Organisation | Sakhalin State University |
| Country | Russian Federation |
| Sector | Academic/University |
| PI Contribution | Collaboration on patients with Neuropathy in Russia |
| Impact | ongoing |
| Start Year | 2010 |
| Description | Sarah Matheson Trust for MSA |
| Organisation | Sarah Matheson Trust for MSA |
| Country | United Kingdom |
| Sector | Charity/Non Profit |
| PI Contribution | Brought patients and encouraged brain donation of MSA patients for our research |
| Collaborator Contribution | Brought patients and encouraged brain donation of MSA patients for our research |
| Impact | Publications, Brought patients and encouraged brain donation of MSA patients for our research |
| Start Year | 2006 |
| Description | Synaptopathies consortium |
| Organisation | Partnership for Advanced Computing in Europe (PRACE) |
| Country | Belgium |
| Sector | Academic/University |
| PI Contribution | Synaptopathies consortium: Wellcome Trust strategic award Sequencing in paroxysmal disorders with collaboration with Rothman, Kullmann, Hanna, Sisodiya, Goadsy and others |
| Collaborator Contribution | Families and samples |
| Impact | Built up a significant cohort |
| Start Year | 2015 |
| Description | University of Tehran |
| Organisation | University of Tehran |
| Country | Iran, Islamic Republic of |
| Sector | Academic/University |
| PI Contribution | Prof Elahe has provided many inportant families for our research and we currently share a PhD student |
| Collaborator Contribution | Prof Elahe has provided many inportant families for our research and we currently share a PhD student |
| Impact | Prof Elahe has provided many inportant families for our research and we currently share a PhD student |
| Start Year | 2009 |
| Description | Wayne State University |
| Organisation | Wayne State University |
| Country | United States |
| Sector | Academic/University |
| PI Contribution | Sharing of CMT1A patient data and DNA |
| Collaborator Contribution | Sharing of CMT1A patient data and DNA |
| Impact | Sharing of CMT1A patient data and DNA |
| Start Year | 2008 |
| Description | dystonia genetics and functional gene collaboration |
| Organisation | Sanford Heart Hospital |
| Country | United States |
| Sector | Hospitals |
| PI Contribution | Exome sequencing, fibroblast and expression studies |
| Collaborator Contribution | dystonia genetics and functional gene collaboration |
| Impact | DMRF joint grant |
| Start Year | 2010 |
| Title | Development of gene panel testing in neurological disorders |
| Description | Development of gene panel testing in neurological disorders. This covers each clinical group of neurological disorders and will be available from January 2013 through the NHS and other outside groups at a cost basis |
| Type | Diagnostic Tool - Non-Imaging |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2012 |
| Development Status | Under active development/distribution |
| Impact | Development of gene panel testing in neurological disorders. This covers each clinical group of neurological disorders and will be available from January 2013 through the NHS and other outside groups at a cost basis Impacts: 1. Many more genes offered, using panels these genes are completely covered. 2. Cheaper testing 3. Faster turnaround |
| Title | Riboflavin in MND and new gene tests |
| Description | he discovery of two genes for Childhood MND have changed practice and patients are now treated with Riboflavin and new genetic tests |
| Type | Therapeutic Intervention - Drug |
| Current Stage Of Development | Initial development |
| Year Development Stage Completed | 2012 |
| Development Status | Under active development/distribution |
| Impact | he discovery of two genes for Childhood MND have changed practice and patients are now treated with Riboflavin |
| Description | "Genomics in Neurodegenerative disease -- what are we up to" |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited Lecture as HKUST IAS fellow, Hong Kong |
| Year(s) Of Engagement Activity | 2019 |
| Description | "Neurogenetic Foundations of Movement Disorders - The Key to Cure?" |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited Keynote Lecture |
| Year(s) Of Engagement Activity | 2019 |
| Description | "The Genetics of the Dementias" |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited teaching lecture at Queen Square on MSc Human Genetics course 2018-19 |
| Year(s) Of Engagement Activity | 2019 |
| Description | Advances in Alzheimer's Disease |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited speaker - The 10th Xiangya International Symposium of the Clinical and Basic Research on Neurodegenerative Disorders, China |
| Year(s) Of Engagement Activity | 2019 |
| Description | Alzheimer's disease pathogenesis: what do we know and why have clinical trials failed |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Patients, carers and/or patient groups |
| Results and Impact | Invited public lecture |
| Year(s) Of Engagement Activity | 2019 |
| Description | Aß hypothesis, AD genetics" |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited lecture - Wenner-Gren Center (Sveavägen 166), Stockholm, Sweden symposium : "Amyloid diseases: from biochemistry to clinical applications" |
| Year(s) Of Engagement Activity | 2019 |
| Description | Crispr Talk - John and Selina |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited Lecture Royal London Hospital |
| Year(s) Of Engagement Activity | 2019 |
| Description | Epidemiology of Alzheimer's Disease and Related Disorders |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited Keynote speaker on teaching course at Bordeaux School of Neuroscience |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genetic analysis of late onset degenerative diseases implicates failures of damage response |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Other audiences |
| Results and Impact | Speaker invitation and Announcement of The Brain Prize Awardee 2019 Copenhagen, Denmark |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genetics |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Local |
| Primary Audience | Supporters |
| Results and Impact | Wolfson final symposium - Institute of Child Health London |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genetics |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited Lecture - Wolfson Institute for Biomedical Research (WIBR) mini-symposium - Sainsbury Wellcome Centre London |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genetics |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Local |
| Primary Audience | Supporters |
| Results and Impact | Invited Lecture Weston's meeting - 50th Year Anniversary Symposium, 33 Queen Square |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genetics in neurodegenerative disease |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited lecture at 2019 International Conference of Korean Dementia Association, (IC-KDA 2019) Seoul |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genetics in neurodegenerative diseases |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Local |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited teaching to PhD students on Biomarkers for neurodegenerative diseases PhD course |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genetics of Alzheimer's |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited lecture at Hong Kong University of Science and Technology ShenZhen branch |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genetics of Alzheimer's and other neuro-degenerative disease |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited Lecture - China National Genebank - Jinsha Road, Dapeng New District, Shenzhen |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genetics of Dementias |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited Lecture XXIV World Congress of Neurology, Dubai - AE |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genetics of Neurodegeneration |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited Lecture at Lisbon AD/PD meeting |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genomic analysis of neurodegenerative diseases |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Other audiences |
| Results and Impact | Invited lecture Scientific Talk (to senior scientists) Odense University Hospital, Denmark |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genomic analysis of the mechanisms of neurodegenerative disease in Denmark to PhD students |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Teaching Lecture to PhD students in neuroscience at the NeuroGrad Winter School, Copenhagen |
| Year(s) Of Engagement Activity | 2019 |
| URL | https://neurograd.ku.dk/neurograd-winter-school/ |
| Description | Genomic clues to neurodegenerative disease mechanisms |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Brain Prize Special Lecture/ keynote lecture at ECNP Congress in Copenhagen |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead) |
| Form Of Engagement Activity | A formal working group, expert panel or dialogue |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Professional Practitioners |
| Results and Impact | Genomics England Genome Sequencing (100,000 genomes) and Neurology GeCIP (HH is co-lead) |
| Year(s) Of Engagement Activity | 2015 |
| URL | http://www.genomicsengland.co.uk |
| Description | Genomics of Neurodegeneration |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited lecture - 3rd Rijeka Forum on Neurodegenerative diseases, Croatia Rijeka |
| Year(s) Of Engagement Activity | 2019 |
| Description | Genomics of neurodegenerative disease |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Keynote speaker FENS The Serbian Neuroscience Society. with the Neuroscience societies of Romania and Turkey. Belgrade Serbia. |
| Year(s) Of Engagement Activity | 2019 |
| Description | HSP society |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | Yes |
| Type Of Presentation | Keynote/Invited Speaker |
| Geographic Reach | International |
| Primary Audience | Other academic audiences (collaborators, peers etc.) |
| Results and Impact | HSP yearly meet and section in HSP booklet |
| Year(s) Of Engagement Activity | 2012,2013 |
| Description | Inaugural Baillieu Myer Lecture |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Inaugural Baillieu Myer Lecture, in honour of contribution to medical research, in particular dementia research |
| Year(s) Of Engagement Activity | 2019 |
| Description | Invited Round table public talk |
| Form Of Engagement Activity | Participation in an activity, workshop or similar |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Other audiences |
| Results and Impact | Invited public round table - Brain Prize Evening - Lundbeck - BNA Festival, The Convention Centre Dublin |
| Year(s) Of Engagement Activity | 2019 |
| Description | Invited talk to the Elderly |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Patients, carers and/or patient groups |
| Results and Impact | Invited speaker at Chinese Dementia Meeting at Community Elder Center at Hebei, China |
| Year(s) Of Engagement Activity | 2019 |
| Description | Meet the Professors |
| Form Of Engagement Activity | A formal working group, expert panel or dialogue |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited Round table public talk |
| Year(s) Of Engagement Activity | 2019 |
| Description | Neanderthals - talk for The National Trust |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Regional |
| Primary Audience | Public/other audiences |
| Results and Impact | Lecture in response to a request to talk to a regional National Trust membership |
| Year(s) Of Engagement Activity | 2019 |
| Description | Neuromuscular research day |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | National |
| Primary Audience | Schools |
| Results and Impact | Around 100 patients More patients involved in our research |
| Year(s) Of Engagement Activity | 2007,2008,2009,2010 |
| Description | Opening lecture: Alzheimer's disease: a personal view on early diagnosis and treatment |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited Lecture - XVIII Teófilo Hernando's International Summer School of Pharmacology Frontier Biomarkers and Drug Discovery for the Early Diagnosis and Treatment of Alzheimer's Disease |
| Year(s) Of Engagement Activity | 2019 |
| Description | Progress in the genomic analysis of neurodegeneration |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Local |
| Primary Audience | Postgraduate students |
| Results and Impact | Lecture to the department of Neurodegenerative Disease as an update on work in progress |
| Year(s) Of Engagement Activity | 2019 |
| Description | Rethinking PD: From a Single Disease to Multiple Diseases:: Genetics, Epigenetics and Environmental Factors |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited Lecture by The Preuss Foundation Seminar on State of the Art Parkinson's Disease Research ~ La Jolla, California |
| Year(s) Of Engagement Activity | 2019 |
| Description | Session 4 - Panel discussion: 'The Future of Neuroscience' |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Local |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited Lecture - UCL Neuroscience Symposium 10th Anniversary, UCL Institute of Education |
| Year(s) Of Engagement Activity | 2019 |
| Description | Skype 2 hour lecture to students |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited Teaching Lecture to Masters Students "Athens International Master's Programme in Neurosciences" University of Athens Department of Biology |
| Year(s) Of Engagement Activity | 2019 |
| Description | The importance of genetics and molecular biology in neurodegenerative diseases |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Local |
| Primary Audience | Postgraduate students |
| Results and Impact | Invitation to Lecture on MRes Translational Neuroscience programme - 7 Queen Square |
| Year(s) Of Engagement Activity | 2019 |
| Description | The importance of genetics and molecular biology in neurodegenerative diseases |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | Local |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited teaching UCL - Basic neuroscience and investigation of Nervous system - CLNE0009 Queen Square |
| Year(s) Of Engagement Activity | 2019 |
| Description | The role of genetics and genetic testing in PD |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Professional Practitioners |
| Results and Impact | Invited Lecture at World Parkinson Coalition 2019 Kyoto, Japan |
| Year(s) Of Engagement Activity | 2019 |
| Description | talk on Genetics at McGill University in Canada |
| Form Of Engagement Activity | A talk or presentation |
| Part Of Official Scheme? | No |
| Geographic Reach | International |
| Primary Audience | Postgraduate students |
| Results and Impact | Invited Lecture |
| Year(s) Of Engagement Activity | 2019 |