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RARE INSIGHTS

Working from home top tips

23/3/2020

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If you are one of the many people who are now working from home, are you finding it difficult to adjust being away from your workplace? The RARE Rev team are used to working from home, but some of us are lucky enough to normally work from the same office. Here are some of our top tips for home working: 
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  • Set yourself working hours. We are all having to make adjustments to our working patterns and hours but if you can try to set specific times to work it can make managing your workload and work life balance easier. It can be difficult to switch off from work at home, so it is important that you set yourself work time boundaries.
  • Structure your day and allow yourself breaks, equally avoid getting distracted by household tasks so that you end up having to catch up on unfinished work tasks at all hours of the day and night.
  • Find yourself a dedicated work space that is only for work so that work doesn't take over spaces that you associate with leisure time.
  • Take a break and step outside for some fresh air. 
  • Rather than email, schedule in some work calls and video calls. You don't want to feel isolated or out of touch with your business.
  • If you are juggling working from home with looking after children or have housemates and family in your home make sure you communicate when you are working and ask people to respect that during this time you will need space. Obviously this is easier said than done and especially difficult for children to understand when it is work time. Make sure you sit down with them and show them your schedule. Set them things to do for an hour and then spend some time together. Be realistic about how long you can spend working. Sometimes a visual aid can help children understand that it is work time, anything from a sign on a door to wearing a hat to signal you are working, whatever works! Set a timer so that they can see how long is left before they have your attention!
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This blog featured in our weekly e-newsletter. We send our subscribers a weekly round-up with our top tips of the week, news and events information. If you would like to subscribe then sign up on our homepage.

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Genomenon released genomic landscape for ectodermal dysplasias for Rare Disease Week

5/3/2020

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PRESS RELEASE
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National Foundation for Ectodermal Dysplasias (NFED) First Recipient of Vital Research Dataset
Ann Arbor, Michigan – 24 February 2020 – Genomenon®, home of the Mastermind® Genomic Search Engine, is celebrating Rare Disease Week 2020 by making the comprehensive genomic landscape of Ectodermal Dysplasias (ED) freely available to clinical and pharma researchers. The release of this data set will provide genetic insight for doctors and researchers searching for efficacious treatments for ED, a collection of more than 100 different disorders that affect the teeth, skin, sweat glands, hair, nails, and other ectodermal structures.
 
The National Foundation for Ectodermal Dysplasias (NFED), the worldwide expert on ectodermal dysplasias, is the only advocacy organisation in the United States dedicated to those living with these disorders. They offer a range of educational resources and events to meet the changing needs of those affected by the different types of ectodermal dysplasias and provide support and community for families with ED.

Genomenon founder Dr Mark Kiel was diagnosed with ectodermal dysplasia at age 13, which led to a connection with NFED and, ultimately, to his chosen career as an MD, PhD in molecular genetic pathology. Once Genomenon was able to produce data that could help NFED in their search for treatments and a cure, he reached out to offer assistance.
 
The Genomenon team produced a Mastermind Genomic LandscapeTM for the primary causative genes associated with ectodermal dysplasias, which included comprehensive evidence for 2,908 genetic mutations (variants), 112 unique clinical symptoms, annotated functional studies, and photos of the physical hallmarks of the ED disorders. They then presented the database to NFED.
This genomic landscape of Ectodermal Dyplasias helps us understand the molecular drivers of ectodermal dysplasias. We can use the data to find correlations between genes, variants and the disease pathways, and find new discoveries that will lead to better treatments of the disease.
Mary Fete, Executive Director of NFED
 
Expanding the body of knowledge on a disease requires access to all of the currently published medical and genetic literature on the disease. Unfortunately, finding this information can be like looking for a needle in a haystack. With the current publication rate at about 3 million articles a year, any rare disease makes up an extremely minute portion of this mass of literature. Mastermind’s Artificial Intelligence and Machine Learning processes find all of the available evidence and present it for researchers and clinicians, ensuring the best possible outcomes.
 
In 2019, Genomenon produced the Genomic Landscape for rare disease Beta-Propeller Protein-Associated Neurodegeneration (BPAN), making it available to researchers as the first in their rare disease efforts of this kind.
 
Read the BPAN Press Release

About Genomenon
 
Genomenon is a genomic health IT company whose mission is to ensure that every rare disease patient is accurately diagnosed and properly treated. With over 7,000 rare diseases impacting more people combined than cancer and a $262 billion orphan drug market targeting rare diseases, Genomenon delivers the genomic tools and data needed to diagnose and treat the genetic drivers of each rare disease.
 
The Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield, and assure repeatability in reporting genetic testing results.
 
Mastermind Genomic Landscapes inform pharmaceutical and bio-pharma companies on precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.
 
Genomenon was named 2020 Global Company of the Year in Clinical Genomics Interpretation by Frost & Sullivan.
 
For more information, visit Genomenon.com
 
Press Contact                                              
Candace Chapman 1-734-219-5175 or email chapman@genomenon.com



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