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

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/10.10…. It’s accompanied by thoughtful commentary from Janet Woodcock and Peter Marks of the FDA (nejm.org/doi/full/10.10…).

3/3 Last, grateful for the trust and partnership of our patient’s family and Mila’s Miracle Foundation (Mila's Miracle). This serves as a public start of important conversations about carefully considered scientific, ethical, and regulatory frameworks for individualized medicine.

Advances in #genetic research can help end the problem of a "diagnostic odyssey": n.pr/35zeTjX Locally, UW-CMG & MyGene2 are working to discover genetic disorders and advance #PrecisionMedicine.

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

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

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

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

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-dis…

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/advance-… Cleveland Clinic Lerner Research Institute Cleveland Clinic

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.

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

How is #COVID19 impacting the #RareDisease community? To find out, the NIH-funded Rare Diseases Clinical Research Network developed a survey. See the responses so far with our interim results dashboard: rarediseasesnetwork.org/survey-results…

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:

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/…

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

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, Chaya Nautiyal Murali. onlinelibrary.wiley.com/journal/155248… 1/2

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/2022/05…

Calling #RareDisease patients and families — here's a chance to share your insurance denial stories with investigative journalists and hopefully generate some change 👇 Neena Nizar Luke Rosen Kathryn Atchley @SLC6A1_Mom Effie Parks Stephanie Fischer Jerry Williams 🇺🇸💙🏳️‍🌈 Nathan Peck M. LUBINUS

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