0:00 Introduction

1:40 A recurrent de novo mutation in a noncoding region of a small nucleolar RNA gene that has been identified as one of the most common causes of neurodevelopmental disorders

This pathogenic variant escaped notice for years because it was not located in a protein coding region of the genome
It now shows potential as a target for various therapeutic developments for children with developmental disorders
See the original paper here: De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

20:30 A new gene, RAB32, linked to Parkinson’s disease through exome sequencing of families impacted by PD

Direct interactions with the LRRK2 gene through its armadillo domain, resulting in a gain of function missense mutation
How RAB32 was discovered as a significant mutation in PD research
The strong therapeutic implications of RAB32 and LRRK2
See original papers: RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses and Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson’s disease

35:30 Gaining insights from rare, monogenic conditions: A monogenic cause of early onset systemic lupus erythematosus (SLE)

Making discoveries by following a biological thread, a rare privilege enjoyed by few fields like immunology
See original paper here: Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus
A related paper from two years ago on SLE and the TLR7 gene: TLR7 gain-of-function genetic variation causes human lupus

49:30 Alzheimer’s disease: Old genes, new insights

Redefining research goals to make better sense of old discoveries, in addition to making new discoveries
deCODE’s previous work on the homozygosity deficit inference
APOE3 Christchurch Heterozygosity and Autosomal Dominant Alzheimer’s Disease
Homozygosity for R47H in TREM2 and the Risk of Alzheimer’s Disease

59:00 Closing remarks

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EP 144: Research Roundup with Dr. Veera: breakthroughs in developmental disorders, Parkinson's, SLE, and Alzheimer's 56:48 Share

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EP 144: Research Roundup with Dr. Veera: breakthroughs in developmental disorders, Parkinson's, SLE, and Alzheimer's