https://xitter.cf/t.co/ZmrBISa3Kc - Uniting families, clinicians, and researchers for rare disease discovery
Seattle, WA
Joined August 2015
- Tweets313
- Following100
- Followers541
- Likes149
MyGene2 retweeted
How has @helenwsantoro lived a normal life while missing a major part of her brain? This is a fascinating story.
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MyGene2 retweeted
Calling #RareDisease patients and families — here's a chance to share your insurance denial stories with investigative journalists and hopefully generate some change 👇
@NeenaNizar @lukebrosen @kat_atchley @SLC6A1_Mom @OnceUponAGene @RarePOV @jerryw1976 @LostTexanInGA @Manuel94
The good people at @propublica are putting together a project about health insurance denials. They are collecting stories. They came to the right corner of twitter for stories. You can tell yours at the link below. propublica.org/getinvolved/i…
MyGene2 retweeted
SCOOP: Top antiabortion leaders and GOP lawmakers have been meeting behind the scenes to strategize for a national abortion ban, mobilizing around a proposal that would outlaw the procedure at 6 weeks.
Here’s what I’ve learned about their plans 🧵washingtonpost.com/nation/20…
MyGene2 retweeted
Check out the new issue of AJMG part C, a special issue entitled "Syndromes and birth defects in art and antiquities: New perspectives on a familiar theme" (guest editors: Drs. Angela Lin, Giovanni Neri, @chayasays.
onlinelibrary.wiley.com/jour…
1/2
MyGene2 retweeted
Awesome work on the practices, benefits, and challenges of social media use among parents of children with undiagnosed diseases.
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MyGene2 retweeted
Our paper on global public attitudes towards genomics and data sharing. We need to take urgent steps to authentically communicate why genomic research is necessary and how data sharing is integral to this. Outside of the genomics world, no one knows this! cell.com/ajhg/fulltext/S0002…
MyGene2 retweeted
Next week marks Maggie’s 6th month on epalrestat. The drug is well tolerated and improving her quality of life!
Maggie’s coordination, stability, speech and mobility have all improved, as shown in the before vs after videos below.
Here she is sitting and reading sight words:
MyGene2 retweeted
How is #COVID19 impacting the #RareDisease community? To find out, the @NIH-funded @rarediseasesnet developed a survey. See the responses so far with our interim results dashboard: rarediseasesnetwork.org/surv…
MyGene2 retweeted
Please don't hesitate to contact us!
[email protected]
The @UW @Dohertylab is looking to collect info about anyone with JS who has tested positive for coronavirus so they can learn more about how it affects people with JS/give us better recommendations.
If that's you or your child, you can help! To learn more, email [email protected].
MyGene2 retweeted
My hope is that #COVID shifts our culture and mindset about data sharing once and for all. Data belongs to the patient. Data should not be hoarded for commercial gain. Data should be governed by policies that protect the patient. Data should be used for the benefit of all.
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MyGene2 retweeted
Its finally out: Tackling the big gap of knowledge for most rare disorders -> Our incidence estimate for hundreds (to thousands) of de novo variant associated disorders. Open access of course: academic.oup.com/brain/advan… @CCLRI @ClevelandClinic
MyGene2 retweeted
Tomorrow, we celebrate everything that makes our community special. Show the world how you celebrate #WRDD2020, be sure to tag us in your posts. globalgenes.org/world-rare-d…
You can help researchers and other families with #RareDisease by sharing your genetic variants and symptoms so others can learn from them. Our site helps you know what to share and helps you connect: mygene2.org
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MyGene2 retweeted
Check out the results of our X-Linked Carrier Survey. This is the largest and most comprehensive carrier study to date, with 433 respondents from over 18 different x-linked disease groups! #retweet
MyGene2 retweeted
1/ This is our daughter Tess. She just turned 10. For her whole life, she's been almost entirely nonverbal. This thread is about her issues and how we're helping her communicate. Please SHARE / RT. #nonverbal #autism #USP7
MyGene2 retweeted
Advances in #genetic research can help end the problem of a "diagnostic odyssey": n.pr/35zeTjX Locally, @UWCMG & @MyGene2 are working to discover genetic disorders and advance #PrecisionMedicine.
MyGene2 retweeted
3/3 Last, grateful for the trust and partnership of our patient’s family and Mila’s Miracle Foundation (@stopbatten). This serves as a public start of important conversations about carefully considered scientific, ethical, and regulatory frameworks for individualized medicine.
MyGene2 retweeted
1/3 Wonderful to finally be able to share our paper on the development and deployment of milasen, now online at nejm.org/doi/full/10.1056/NE…. It’s accompanied by thoughtful commentary from Janet Woodcock and Peter Marks of the FDA (nejm.org/doi/full/10.1056/NE…).
A “negative” (no causal variant) clinical exome is not the end of the road! Families can share their raw exome sequence data on MyGene2.org and access free reanalysis by gene discovery researchers and even look at their data themselves #RareDisease
Clinical #exome sequencing can find a diagnosis for about ⅓ cases. In this paper an extended research analysis, including application of gene and phenotype matching, is shown to increase diagnosis by a further 10-15%
nature.com/articles/s41431-0…
