The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division.

New ACMG guidelines for CNVs

They’re here, the new ACMG & ClinGen guidelines for interpretation & reporting of constitutional CNVs we’ve all been waiting for. The new guidelines introduce a scoring system for determining CNV pathogenicity, with each score mapping into the familiar five-tier classification system. When you’re reading, don’t forget the 30 pages of supplementary information.

Our team started working on implementation into our platform today, we’ll keep you posted on progress.
Genetics in Medicine

Largest CNV neuroimaging study to date

Staying on the topic of CNVs, researchers performed brain MRIs on ~45k individuals with 15q11.2 CNVs. 15q11.2 BP1-BP2 microdeletions and duplications are present in 0.5% to 1.0% of the population, making it the most prevalent known pathogenic CNV. The study finds evidence that 15q11.2 BP1-BP2 SVs are associated with brain morphology and cognition, with deletion carriers being particularly affected.
JAMA Psychiatry

Protective Variants

We’ve known for a while that variants SLC30A8 gene can reduce the risk of getting type 2 diabetes, but the how was unclear. Researchers found that a rare loss-of-function allele p.Arg138* in SLC30A8 encoding the zinc transporter 8 (ZnT8), which is enriched in Western Finland, protects against diabetes by enhanced insulin secretion.
Nature Genetics

A PSEN1 mutation carrier from the world’s largest autosomal dominant Alzheimer’s disease kindred, delayed expected age of onset by three decades, probably due to the protective effects of two copies of the APOE3 Christchurch (R136S) mutation.
Nature Medicine
Or, if you prefer the story version NYTimes.

Quiz Break !

Can you name the genes that may protect elephants from cancer?


The long journey to a cure

On August 25th, 1989, researchers discovered the CFTR gene and the Phe508del mutation. It’s been 30 years, but gene therapy, which may help 90% of persons with CF, is in phase III clinical trials.
Realizing the Dream of Molecularly Targeted Therapies for Cystic Fibrosis, Francis Collins, NIH Director, NEJM
The Lancet

Another journey, this one just beginning. 10-month-old Lydia’s parents are impressive in their private pursuit of knowledge and treatment after she was identified with a KCNQ2 mutation.
They’re part of a growing community of patients taking their lives into their own hands.
Nature Biotechnology

Polygenic contribution to rare genetic disorders

Quantifying the polygenic contribution to variable expressivity in 11 rare genetic disorders. Polygenic scores can provide useful clues in predicting clinical severity & risk stratification of rare disorders.
Nature Communications

Where are we?

If you thought there were 5000-7000 rare diseases, you may be wrong. In harmonizing rare disease definitions, the Monarch Disease Ontology team have updated their estimate to over 10,000. Coordinated efforts to more precisely define rare diseases will lead to improved diagnosis and care of patients.
Nature Reviews Drug Discovery

Opportunities and challenges in clinical adoption of NGS-based genetic testing for the diagnosis of rare diseases. Much depends upon the accuracy & reproducibility of NGS as well as deployment of AI-based solutions for variant prioritization & interpretation.
Trends in Genetics

Significant Singles:

Ada Reports

(Ada is our AI engine, she likes to add an interesting new factoid she discovered in every issue)

Biallelic variants in PCYT2 lead to a novel, complex hereditary spastic paraplegia by disrupting etherlipid & etherphospholipid metabolism.

The short version in Science news: Elephants rarely get cancer thanks to a ‘zombie’ gene
Or the original research in Cell Reports: A Zombie LIF Gene in Elephants Is Upregulated by TP53 to Induce Apoptosis in Response to DNA Damage

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