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Research programme summary reporting the establishment and expansion of international familial dementia cohorts to investigate presymptomatic and symptomatic progression and validate fluid and imaging biomarkers across inherited neurodegenerative diseases.
Year:
2020
Region / Institution:
University College London
Programme:
DPUK Work Package 5
Related Work Packages:
WP3 (UK Biobank), WP4 (1946 birth cohort), WP6
Thematic Area:
Neurodegenerative diseases and biomarkers
Diseases Covered:
Familial Alzheimer’s disease, Familial frontotemporal dementia, Huntington’s disease, Familial Parkinson’s disease (LRRK2)
Cohorts:
UCL FAD, DIAN, GENFI, Track HD, LRRK2 cohort
Type of Document:
Research programme summary and output report
Organ / Institution:
University College London
Collaborating Initiatives:
DIAN, GENFI, Track HD, UK Biobank
Main Biomarkers Studied:
Serum neurofilament light (NfL), plasma phospho-tau181, cortical mean diffusivity, PET imaging markers
Study Population:
Individuals with autosomal dominant inherited neurodegenerative diseases and non-mutation carrier siblings
Research Focus:
Presymptomatic to symptomatic disease progression and biomarker validation
Outputs:
Peer-reviewed publications and longitudinal cohort analyses
Price: 8 / 10 USD
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Year:
2026
Institution:
University of Leicester
College/School:
College of Life Sciences, MCB
First Supervisor:
Professor Salvador Macip
Second Supervisor:
Professor Shaun Cowley
Email First Supervisor:
[email protected]
Email Second Supervisor:
[email protected]
Project Type:
MIBTP studentship
Research Focus:
Ageing, senescence, neurodegenerative diseases, cancer
Collaborators:
BarcelonaBeta Brain Research Center, Division of Chemistry at University of Leicester
Techniques:
Protein/DNA/RNA extraction, microscopy, immunofluorescence, immunohistochemistry, subcellular fractionation, gradient separation, cloning, transfection, RNA interference, flow cytometry, Western blots, luciferase assays, qRT-PCR, microarrays, mass spectrometry, image processing, statistical analysis
Year:
2022
Location:
Europe (France, Belgium, Italy, Sweden, Estonia, Israel, Slovakia, Latvia, Czech Republic)
Theme:
Neurodegenerative diseases, Wolfram syndrome, ALS, Parkinson’s disease, ATAD3A disorders, Sigma-1 receptor
Document type:
Conference program
Organizers:
Various academic and clinical institutions in Europe
Sessions:
7 scientific sessions, poster presentations, gala dinner, sightseeing
Presenters:
Nolwen Le Floch, Benjamin Delprat, Elodie Richard, Catherine Verfaillie, Marco Peviani, Angela Cenci Nilsson, Vinay Choubey, Tamar Harel, Shlomit Ezer, Martina Skopkova, Tangui Maurice, Patricia Melnyk, Liga Zvejniece, Geert Bultynck, Michal Cagalinec, Jan Skoda, Barbara Ehrlich, Matej Hotka, Alexandra Zahradnikova Jr
Dates:
October 26–27, Wednesday–Thursday
Target audience:
Researchers, clinicians, and professionals in neurodegenerative disease research
Format:
In-person and online presentations
Year:
2023
Region / city:
Madrid, Spain
Field:
Neurodegenerative diseases
Document type:
Review
Author:
Vanesa Nozal, Ana Martinez
Target audience:
Researchers, clinicians, biologists
Period of application:
Not specified
Approval date:
Not specified
Date of changes:
Not specified
Year:
Not specified
Field of study:
Neuroscience; Neuroimmunology; Molecular Biology
Topic:
Meningeal inflammation and immune cell interactions in multiple sclerosis
Document type:
PhD research project description
Institution:
Imperial College London
Faculty:
Faculty of Medicine
Author / Supervisor:
Roberta Magliozzi
Research focus:
Multi-omic analysis of meningeal immune landscape and tertiary lymphoid-like structures in progressive multiple sclerosis
Methods:
Spatial transcriptomics; Mass spectrometry; Genome-wide association data integration; In-vitro cell culture models using hiPSC-derived neuronal and glial cells
Biological material:
Post-mortem meninges from multiple sclerosis donors and neurologically healthy controls
Sample size:
20 multiple sclerosis cases and 10 control individuals
Research objectives:
Identification of immune signatures, cellular interactions and molecular pathways associated with neuro-axonal damage and disease progression
Experimental models:
Human-induced pluripotent stem cell-derived neuronal and glial cell lines
Funding:
UKRI stipend and Faculty of Medicine course fees for three years with additional research consumables funding
Target applicants:
Graduates with honours degree in Biomedical Sciences and background in neuroscience, computer science, molecular biology or cell culture
Application materials:
Curriculum vitae and cover letter with contact details of two referees
Contact person:
Roberta Magliozzi
Year:
2022
Region / City:
Oxford, Basildon, Leeds, London
Topic:
Inherited Cardiovascular Conditions
Document Type:
Training Curriculum
Institution:
Not specified
Author:
Dr. E Wicks, Dr. A Dimarco, Dr S Page, Prof. S Mohiddin
Target Audience:
Cardiologists in training
Period of Validity:
Not specified
Approval Date:
November 2022
Date of Modifications:
Not specified
Year:
2023
Region / City:
United States
Subject:
Science
Document Type:
Lesson Plan
Organization:
GYSTC
Author:
Unknown
Target Audience:
Fifth Grade Students
Period of Action:
Single lesson
Approval Date:
Unknown
Revision Date:
Unknown
Subject:
Life Science
Grade Level:
4
State Standard:
4-2
Indicator:
4-2.4
Learning Objective:
Distinguish between inherited and acquired characteristics
Essential Question:
How do living things survive in their environment?
Assessment Method:
3-2-1 written reflection
Instructional Activities:
Beak adaptation simulation, textbook reading and discussion, PowerPoint presentation
Materials:
Spoon, Fork, Straw, Chopsticks, Rice grains, Foam packing material, Cup of water
Target Audience:
Grade 4 students
Instructional Strategies:
Turn and talk, prediction, discussion, text analysis
Accommodation:
Pairing for special education students
Critical Thinking Focus:
Understanding vocabulary, analyzing camouflage, evaluating adaptations
Habitat Selection and Learning in Cattle: Inherited Traits, Social Models, and Individual Experience
Year:
2023
Institution:
University of Idaho
Course:
REM 456
Instructor:
Karen Launchbaugh
Region / Study Locations:
Idaho, New Mexico, Texas
Subject:
Animal behavior, habitat selection
Species:
Cattle (Tarentaise, Hereford, Brangus, Angus)
Methods:
Observational studies, trial and error, social facilitation
Key Concepts:
Inherited habitat preferences, diet influence, social learning, individual experience, spatial memory, habitat use skills
Year:
2023
Region / City:
United States
Topic:
Genetic Conditions, Familial Hypercholesterolemia
Document Type:
Template Letter
Organization / Institution:
N/A
Author:
N/A
Target Audience:
Family members of individuals diagnosed with FH
Effective Period:
N/A
Approval Date:
N/A
Modification Date:
N/A
Year:
2024
Region / City:
Florida, USA
Topic:
Criminal Law, Sexual Battery
Document Type:
Legal Instruction
Author:
Florida Legislature
Target Audience:
Legal professionals, judges, prosecutors, defense attorneys
Period of validity:
From 1987, with amendments through March 2024
Date of approval:
1987
Date of amendments:
December 21, 2022; March 8, 2024
Note:
Year
Theme:
Genetics, Medical Diagnostics
Document type:
Educational activity
Target audience:
Students, Educators
Year:
2023
Region / City:
Dorset
Theme:
Child Protection, Safeguarding
Document Type:
Terms of Reference
Organization:
Dorset Council, Dorset Police
Target Audience:
Professionals involved in child protection and safeguarding
Period of validity:
Ongoing
Approval Date:
September 2023
Date of Changes:
None
Authors:
Jasmine Gratton; Steve E Humphries; Marta Futema
Institutions:
Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, United Kingdom; Cardiology Research Centre, Molecular and Clinical Sciences Research Institute, St George’s University of London, London, United Kingdom
Country:
United Kingdom
Data source:
UK Biobank
Study design:
Population-based cohort study
Subject:
Prevalence of FH-causing genetic variants and association with LDL-C levels across ancestry groups
Population:
European, South Asian, and African ancestry participants
Sample size:
140,439 European; 4,067 South Asian; 3,906 African participants with lipid and whole exome sequencing data
Genes analysed:
LDLR; APOB; PCSK9
Methods:
Principal component analysis; whole exome sequencing; variant classification using ACMG guidelines
Outcome measures:
Prevalence of pathogenic and likely pathogenic FH variants; LDL-C concentration adjusted for statin use; prevalence and incidence of coronary heart disease
Period of data collection:
2006–2010
Ethical approval:
Conducted under approved UK Biobank application 40721
Type of document:
Scientific research article
Year:
2023
Region:
United Kingdom
Topic:
Breast Cancer, Familial Risk
Document Type:
Clinical Guideline Summary
Organization:
National Institute for Health and Care Excellence (NICE)
Target Audience:
General Practitioners, Primary Care Staff
Level of Care:
Primary and Secondary Care
Key Recommendations:
Referral pathways, Family history assessment, Tamoxifen prescribing
Implementation Status:
Updated guideline with electronic template in progress
Relevant Clinical Areas:
Breast Units, Family History Clinics, Genetic Services
Screening:
NHS Breast Screening Programme, additional surveillance for high-risk women
Year:
2023
Region / City:
Denmark
Topic:
Familial Hypercholesterolemia, Lipid Profiles, Cardiovascular Risk
Document Type:
Supplementary Data / Research Tables
Institution:
Danish National Patient Registry, Danish Familial Hypercholesterolemia Registry
Authors:
Hedegaard BS, Bork CS, Kanstrup HL, Besseling J, Visseren F, et al.
Target Audience:
Researchers and clinicians in cardiology and genetics
Data Collection Period:
Up to 2023
Methods:
Clinical data validation, genetic testing, lipid-lowering treatment assessment
Abbreviations Used:
LDL-C, Lp(a), FH, DLCN, DNPR, LDLR, ApoB, PCSK9
Data Validity:
Positive predictive values and sensitivity for DLCN components
Follow-up:
6±2 months post-diagnosis
Genetic Analysis:
Pathogenic variants in LDLR, ApoB, PCSK9