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CircaGene contributes to the fight against SARS-CoV-2

Protecting Public Health at both population and individual levels is our Mission.

As a result of the current COVID-19 pandemic, CircaGene announces today that it will provide FREE Capacities and FREE technical support to selected British not-for-profit Health protection organisations that are able to effectively utilise additional resources. Several successive announcements will follow in the coming days.

The first measure announced today Wed 11 March is that we offer a free instrument loan to one selected team: our ultra-portable DNA and RNA Sequencing machine, the ONT MinION, so they can sequence the virus when and where it matters the most, adding to the scientific knowledge, epidemiology of spread and ongoing virus evolution.

Well known and trusted, this device is suitable for both laboratory and field-based sequencing approaches.  It could give additional capacity to those organisations and laboratories already familiar with the device and its utilisation.

We hope that it can be effectively used to diagnose and study the infection (and other co-infections*) in infected patients and to sequence the full genome of the virus to, allowing identification of potential new mutations and epidemiological studies.

Could your organisation make use of additional capacity by accessing this MinION sequencer for free?

Express your interest by Email to info@CircaGene.com before Sunday 15 March at Midnight.  Please provide

·        Identity of your Organisation (3 sentences max describing the organisation and project team members)

·        Project description / How the MinION will add capacity to your ongoing projects (5 sentences max describing the projected use(s)

·        Proposed deliverables (as bullet points, it can be without being limited to- the number of people tested, the number of Genomes you will share with Scientific community, etc)

What is NOT provided: Manpower, samples, reagents, controls/Reference material, samples and FlowCells. Laptop (or MinIT device) to buffer and analyse the data generated.

What IS provided: ONT MinION + USB cable. Online Support for setting-up the experiment and analysing any data generated.

Conditions: Used Only to fight COVID-19, Genomes and individual sequences must be SHARED with Scientific Community as soon as produced through Public sequencing databank EBI: https://www.ebi.ac.uk/ena/pathogens/covid-19 . The Device must be returned to CircaGene Labs in working condition once the pandemic is contained.

 Stay tuned, more to come.

 *read more:

Protocol to sequence SARS-CoV-2: https://www.medrxiv.org/content/10.1101/2020.03.05.20032011v1.full.pdf+html

Examples of MinION sequencing

in Brazil: https://www.eurekalert.org/pub_releases/2020-03/fda-tcg030320.php

Or in New-Zealand: https://www.nzherald.co.nz/nz/news/article.cfm?c_id=1&objectid=12314838

Today Sunday 8 March is International Women’s Day

Today Sunday 8 March is International Women’s Day

 This significant day is a great opportunity to recognise and celebrate women that have achieved great things and inspire us all.

 To celebrate this day, we thought we’d share with you the profile of one of our best scientist ever, an inspiring woman in the history of Sciences that revolutionised our understanding of genetics.

 Barbara McClintock

 She was an American scientist and cytogeneticist who was awarded the 1983 Nobel Prize in Physiology or Medicine. McClintock made the discovery in the 1940s and '50s of mobile genetic elements, or “jumping genes,” won her the Nobel Prize by building and proving one of the most extraordinary theories in genetics.

McClintock provided the first experimental proof that genes were physically positioned on chromosomes.

She was the first American woman to win an unshared Nobel and a source of inspiration for many geneticists. she never married or had children.

 #IWD2020  #EachForEqual

 

Read more:

https://en.m.wikipedia.org/wiki/Barbara_McClintock

Researchers propose a major improvement to better analyse human mutations with small individual effects

All our Genetic material taken together is called our “Genome”. It is composed of DNA (a molecule being the language of life, composed of the four letters A, T, C, G) and organised in 23 Volumes (our chromosomes, organised in pairs as we have for each chromosome, one inherited from our mother and one from our father).

Traditionally, in human genetics, we call “mutations” or “variants” the variations in our chromosomes, compared to a “reference” genome (CircaGene use preferentially “GRCh38” for example). To have different variants does not mean we are “defective”, it is absolutely normal to harbour some genetic diversity.

These small variations can change our morphology (“traits” such as [Blue eyes] or [lactose intolerant]) or impact our health (“predispositions”). Some of these variants can be linked to adverse conditions and others may have a protective effect against some diseases or conditions (several mutations are known to make humans resistant to HIV infections, others can protect us against the development of some forms of cancers).

However, a particular mutation or variant is not 100% linked to a consequence. This is what we call the “penetrance” of a mutation. The most penetrant mutations known so far are located in genes BRCA1 and BRCA2 and harbouring a strong link with development of breast cancer in women (more than 90% lifetime risk for some rare combinations of mutations, you probably remember the case of Angelina Jolie).

Up to now, highly penetrant mutations were well studied and used to estimate health risks, however mutations of low penetrance were less well exploited for global risk prediction. This was a limitation as to accurately predict risks we need to integrate BOTH few highly penetrant mutations (tip of the iceberg) AND a lot of low-penetrance mutations (rest of the iceberg).

In the scientific paper published this year in the famous journal “Nature”, some researchers report a way to develop criteria for inclusion of risk alleles on clinical reports. It will allow to better exploit the low-penetrance variants identified through Genetics research and ultimately reach better accuracy for predicting Your Health risks to better mitigate them.

Source: Nature, see https://www.nature.com/articles/s41436-019-0560-8?sfns=mo