GenomicsCollaborative (@genomicscollab) 's Twitter Profile
GenomicsCollaborative

@genomicscollab

Designing The Future of Health Together. Join our efforts in collaborating towards scientific breakthroughs.

ID: 943569370172751873

linkhttp://www.genomicscollaborative.com calendar_today20-12-2017 19:50:43

44 Tweet

428 Followers

315 Following

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We are excited to announced a new study between GenomicsCollaborative & Syngap1 to learn more about #SYNGAP1. Are you a Syngap patient? Submit your case here: tinyurl.com/ya9yfeld #raredisease #Research #Studies #FacialAnalysis #NextGenerationPhenotyping #Genetics

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Our team is heading out to #ESHG2018! Will we see you in Milan? Stop by booth #338 and say hello! We want to know what diseases is YOUR biggest priority. Learn more about our Face2Gene technology and let us know if you'd like to be partners in a new collaboration!

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Join us 7/11 for a webinar with FDNA and ThinkGenetic, Inc. featuring Dr. Karen Gripp, Dr. Cara O’Neill, Ilana Jacqueline and moderated by Dawn Laney discussing the #GenomicsCollaborative - how #AI & #tech are advancing #PrecisionMedicine: ow.ly/mzR930kBptl

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Interested in learning about the Genomics Collaborative? Join us for a webinar starting at 2PM EST to learn how patients and #PatientAdvocacy groups can get involved in new research! fdna.zoom.us/webinar/regist… #raredisease #genetics #research #Medical #patients

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Did you miss our webinar last week on how #patients, #patientadvocates, #researchers, #clinicians, #labs, life science companies and #publichealth officials can get involved in new #genetic disease research? Watch the recap video here: youtube.com/watch?v=9bxk1u…

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"Shining a Light on Undiagnosed Disease at @FDNA" Honored to be featured in this issue of RARE Revolution Magazine®! We thrive working alongside the great advocacy communities in #rare and #genetic disease!

"Shining a Light on Undiagnosed Disease at @FDNA" Honored to be featured in this issue of <a href="/RareRevolutionM/">RARE Revolution Magazine®</a>! We thrive working alongside the great advocacy communities in #rare and #genetic disease!
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"I wasn’t ready to have the family spend money on yet a third test without some degree of confirmation that we were on the right track.” Doctor uses facial analysis app on #undiagnosed patient, reducing cost of expensive genetic testing. Read more: smithsonianmag.com/innovation/app…

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Thanks to Charles River Labs for inviting us to the #CRLWorldCon today to hear speakers like David Hysong (@Shepherd_bio) Preston Campbell (Cystic Fibrosis Foundation) Doug Albrecht (Jain Foundation) Martin Naley (myTomorrows) Owen Roberts American MedChem & more! #raredisease #genetics

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"#Raredisease suffers from a leadership vacuum. Foundations are uniquely suited to fill that void." Dr. Albrecht (Jain Foundation) on making orphan diseases attractive to drug companies. #CRLWorldCon #pharma

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"We have made pre-approval access a strategic compliment to #clinicaltrials. Helping that drug development process in the rare community to move those treatments forward with more patients & learn from the full intended patient population"- Martin Naley myTomorrows #CRLWorldCon

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40 years ago, a University of Michigan chemist proposed a way to treat #Gaucher disease, a rare lysosomal storage disorder. James Shayman speaks to a packed house at #CRLWorldCon about how they brought their drug to market. #drugdiscovery #RareDisease

40 years ago, a <a href="/UMich/">University of Michigan</a> chemist proposed a way to treat #Gaucher disease, a rare lysosomal storage disorder. James Shayman speaks to a packed house at #CRLWorldCon about how they brought their drug to market. #drugdiscovery #RareDisease
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Closing out Day 1 at the #CRLWorldCon with Mike Porath, Founder & CEO, The Mighty. Thank you for sharing your story with us! #RareDisease #MightyTogether

Closing out Day 1 at the #CRLWorldCon with Mike Porath, Founder &amp; CEO, <a href="/TheMightySite/">The Mighty</a>. Thank you for sharing your story with us! #RareDisease #MightyTogether
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Second day of #PatientAdvovcacy and education at the #CRLWorldCon with speakers from prionalliance Charles River Labs AFM-Téléthon Yumanity Odylia Therapeutics & EveryLife Foundation. Exciting examples of #rare and #Genetic community collaborations for #GeneTherapy & #PrecisionMedicine

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Over the last five years, Sanford Research has taken a team approach to move the needle towards having effective treatments for #battendisease. Weimer Lab shares successes and hurdles at #CRLWorldCon.

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A SUCCESSFUL OUTCOME for a #raredisease community of less than 40 known cases. A research collaboration between Hao-Fountain Syndrome and FDNA's Face2Gene technology just produced a facial phenotype for USP7. See the results here: usp7.org/press-releases #rare #genetics #research

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"Because there is such a small population of #USP7 patients, my own daughter included, having a tool such as #Face2Gene trained to recognize this syndrome increases awareness and likelihood of an earlier diagnosis" - Bo Bigelow of Hao-Fountain Syndrome usp7.org/press-releases #rare

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GenomicsCollaborative at @FDNA is celebrating 10 amazing moms in #raredisease advocacy. Congrats to Gina Szajnuk RUN Neena Nizar Neena Nizar Carri Levy Carri Levy Rene King of All Thinks Kabuki & Eden Lord of #TheRareFair! Read their stories: fdna.com/blog/moms-on-a…

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Excited to be joining the over 800 registrations, representing over 250 rare diseases during the Global Genes 2018 Patient Advocacy Summit through their accessible livestream! #raredisease #2018GGSummit