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Specific PHGKB|Neurological Disorders PHGKB|PHGKB

Last Posted: Jul 22, 2021
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Developing an Economic and Policy Research Agenda for Blood Biomarkers of Neurodegenerative Diseases
JJ Arias et al, JAMA Health Forum, July 16, 2021

The paucity of economic analyses of neurodegenerative diseases contrasts with that of cancer, which has experienced a similar reconceptualization of disease and for which there has been far more economic analyses examining blood-based biomarker use.7 Economic analyses of blood tests for biomarkers of neurodegenerative diseases must receive similar attention given their future clinical importance.

Accelerated approval offers a promising roadmap for rare neurological diseases
ED Kakkis, Stat News, July 7, 2021

Using the underlying genetics of rare diseases to identify biomarkers that are reasonably likely to predict the benefit of novel therapies should make it possible to rely on these biomarkers for accelerated approval.

Dominantly inherited Alzheimer’s disease: a compass for drug development
GD Rabinovici, Nature Medicine, July 5, 2021

Dominantly inherited Alzheimer’s disease (DIAD) accounts for only 1% of cases of Alzheimer’s disease (AD) but has made fundamental contributions to the understanding of this disease. A focus on patients with DIAD as a target population for AD clinical trials has a strong scientific rationale. People from familial AD pedigrees tend to be young, otherwise healthy and highly motivated to participate in research. Mutations are essentially 100% penetrant, with the onset of clinical symptoms occurring at a predictable age.

Progress towards therapies for disease modification in Parkinson's disease
N Vijaratnam et al, Lancet Neruology, July 2021

Better understanding of Parkinson's disease pathogenesis associated with advances in laboratory models, the use of objective biomarkers of disease progression and target engagement, and a focus on agents known to be safe for human use, alongside the use of precision medicine approaches, should together greatly increase the likelihood for successful identification of disease-modifying treatments for Parkinson's disease.

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A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease. External Web Site Icon
Peterson Laiken et al. Journal of genetic counseling 2021
Estimated Prevalence and Incidence of Amyotrophic Lateral Sclerosis and SOD1 and C9orf72 Genetic Variants. External Web Site Icon
Brown Carolyn A et al. Neuroepidemiology 2021 1-12
Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View. External Web Site Icon
Kohlschütter Alfried et al. Frontiers in neurology 2021 12692527
Genetic identification of pathogenic variations of the DMD gene: a retrospective study from 10,481 neonatal patients based on next-generation sequencing data. External Web Site Icon
Xiao Tiantian et al. Annals of translational medicine 2021 9(9) 766
Living with Osteogenesis Imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals. External Web Site Icon
Hill Melissa et al. Disability and health journal 2021 101168
Mini-Review: Genetic Literacy and Engagement With Genetic Testing for Autism Spectrum Disorder. External Web Site Icon
Little India D et al. Frontiers in genetics 2021 12693158
A Real-Time Clinical Decision Support System, for Mild Cognitive Impairment Detection, Based on a Hybrid Neural Architecture. External Web Site Icon
Suárez-Araujo Carmen Paz et al. Computational and mathematical methods in medicine 2021 20215545297
Dementia risks identified by vocal features via telephone conversations: A novel machine learning prediction model. External Web Site Icon
Shimoda Akihiro et al. PloS one 2021 16(7) e0253988
Seizure detection using wearable sensors and machine learning: Setting a benchmark. External Web Site Icon
Tang Jianbin et al. Epilepsia 2021
Risks of covid-19 hospital admission and death for people with learning disability: population based cohort study using the OpenSAFELY platform. External Web Site Icon
Williamson Elizabeth J et al. BMJ (Clinical research ed.) 2021 7 n1592


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