MyGene2

- Uniting families, clinicians, and researchers for rare disease discovery

[Erika Check Hayden @Erika_Check]

How has @helenwsantoro lived a normal life while missing a major part of her brain? This is a fascinating story.

[Caitlin Nichols, PhD @caitlinanichols]

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

[Caroline Kitchener @CAKitchener]

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 🧵https://t.co/U58pxdMVAQ

[MyGene2 @MyGene2]

@platzer_k @GeneMatcher @MatchMExchange @Solve_RD @decipher_wtsi @PhenomeCentral @PhenomCentral MyGene2 does not allow gene-only submissions for this reason.

[MyGene2 @MyGene2]

@platzer_k @GeneMatcher @MatchMExchange @Solve_RD @decipher_wtsi @PhenomeCentral The @MatchMExchange protocol already supports gene name + inheritance + phenotype and almost all nodes of MME incl @MyGene2 @GeneMatcher @decipher_wtsi @PhenomCentral @Solve_RD support those… but most users don’t bother/don’t want to submit

[Benjamin Solomon @BenjaminSolomo2]

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.
https://t.co/IK88CU7mBf
1/2

[Katie Golden-Grant @KatieGG_GC]

Awesome work on the practices, benefits, and challenges of social media use among parents of children with undiagnosed diseases.

[Anna Middleton @Genomethics]

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! https://t.co/vZ80q3m59K

[Ethan Perlstein 1-to-N @eperlste]

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:

[Rare Diseases Clinical Research Network @rarediseasesnet]

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: https://t.co/v2KJ8IhWPC

[MyGene2 @MyGene2]

@younghe57 We encourage her to create a MyGene2 profile with her genetic information and link to her Facebook page from it. FB pages are not great for families and researchers who need to search and compile info across multiple patients

[MyGene2 @MyGene2]

Family with de novo frameshift in QRICH1 looking to connect with others sharing candidate gene! https://t.co/AqPbpCs5Ty

[Dan Doherty @Dohertylab]

Please don't hesitate to contact us!
[email protected]

[Dr. Catharine Young @DrCatharineY]

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.

[Dennis Lal @LalDennis]

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: https://t.co/XOBtsvpTLG @CCLRI @ClevelandClinic

[Global Genes @GlobalGenes]

Tomorrow, we celebrate everything that makes our community special. Show the world how you celebrate #WRDD2020, be sure to tag us in your posts. https://t.co/awagVP78Px

[MyGene2 @MyGene2]

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: https://t.co/QkSaRKvhQO

[RARE Revolution Magazine® @RareRevolutionM]

A big week ahead in the #RareDisease community... #RareDiseaseDay2020 🦓🧬

[MyGene2 @MyGene2]

@NIH https://t.co/fDR5oR0QV1 for openly sharing variant/gene and phenotype data so everyone can benefit!

[Remember The Girls @remember_girls]

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

[Bo Bigelow @bobigelow]

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