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Specific PHGKB|Neurological Disorders PHGKB|PHGKB

Last Posted: May 13, 2021
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Solving unsolved rare neurological diseases—a Solve-RD viewpoint
R Schule et al, EJHG, May 10, 2021

To increase the diagnostic yield in rare neurological diseases - one of the four focus disease groups in Solve-RD - we follow two major approaches, that we will here present and exemplify: (i) systematic state-of the art re-analysis of large cohorts of unsolved whole-exome/genome sequencing (WES/WGS) RND datasets; and (ii) novel-omics approaches.

Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson’s disease
G Liu et al, Nature Genetics, May 6, 2021

We performed a longitudinal genome-wide survival study of 11.2 million variants in 3,821 patients with PD over 31,053 visits. We discover RIMS2 as a progression locus and confirm this in a replicate population (hazard ratio (HR)?=?4.77, P?=?2.78?×?10-11), identify suggestive evidence for TMEM108 (HR?=?2.86, P?=?2.09?×?10-8) and WWOX (HR?=?2.12, P?=?2.37?×?10-8) as progression loci, and confirm associations for GBA (HR?=?1.93, P?=?0.0002) and APOE (HR?=?1.48, P?=?0.001). Polygenic progression scores exhibit a substantial aggregate association with dementia risk.

Failure of genetic therapies for Huntington’s devastates community- Hopes were high for drugs designed to lower levels of a mutant protein, but development has stalled.
D Kwon, Nature News, May 5, 2021

Two pharmaceutical companies have halted clinical trials of gene-targeting therapies for Huntington’s disease (HD), following the drugs’ disappointing performance. Researchers had hoped that the treatments — known as antisense oligonucleotides (ASOs) — would be a game changer for HD, an incurable genetic condition that affects cognition, behavior and movement. But back-to-back announcements have dealt a crushing blow to those affected by the disease.

Autism Spectrum Disorder, Family Health History, and Genetics
CDC, March 2021

If someone in your family has autism spectrum disorder (ASD), you may be more likely to have a child with ASD. ASD can look very different from person to person, so taking a careful family health history can be important for early diagnosis. Early screening and diagnosis of ASD can ensure that children receive the services they need for better outcomes.

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