mygene2.org - Uniting families, clinicians, and researchers for rare disease discovery
Joined August 2015
- Tweets 313
- Following 100
- Followers 543
- Likes 149
13 Photos and videos
MyGene2 retweeted
4 Sep 2022
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
19 Aug 2022
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
19 Aug 2022
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…
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MyGene2 retweeted
2 May 2022
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…
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MyGene2 retweeted
13 Jun 2021
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…
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MyGene2 retweeted
7 Jun 2021
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
17 Sep 2020
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…
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MyGene2 retweeted
23 Jul 2020
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:
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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…
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MyGene2 retweeted
2 May 2020
Please don't hesitate to contact us!
joubert@uw.edu
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 joubert@uw.edu.
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MyGene2 retweeted
19 Mar 2020
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
13 Mar 2020
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
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MyGene2 retweeted
28 Feb 2020
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…
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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
23 Feb 2020
A big week ahead in the #RareDisease community... #RareDiseaseDay2020 🦓🧬
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MyGene2 retweeted
18 Feb 2020
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
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MyGene2 retweeted
17 Dec 2019
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
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MyGene2 retweeted
21 Oct 2019
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.
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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.
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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…).
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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
30 Sep 2019
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…
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