NGLY1.org

Research, awareness & support for the N-glycanase (#NGLY1) deficiency #CDG #RareDisease community.

[NGLY1.org @ngly1org]

Powerful video about how our first #NGLY1 Deficiency patient was found, and the incredible Might family (@mattmight @bertrandmight , founders of https://t.co/4dTKmUrmlg) who work tirelessly to help others affected by NGLY1 and #raredisease
https://t.co/I1qNDaNdao

[NGLY1.org @ngly1org]

@NGLY1org + @CDGCAREorg = STRONGER TOGETHER! Visit the latest news on our union at https://t.co/MqlYGOjOuR

[CDG CARE @CDGCAREorg]

📣 The Frontiers in CDG Consortium (FCDGC) releases updated guidance for CDG patients during the COVID-19 pandemic. To directly access the statement, please click on the link below. 👇
https://t.co/oS9HbxHJ61

[NGLY1.org @ngly1org]

Research update on #NGLY1Deficiency - Significance of #NGLY1 in #melanoma cells suggesting that targeting NGLY1 represents a novel anti-melanoma strategy.
https://t.co/IvGxmZBsBm

[NGLY1.org @ngly1org]

The more research we put into #NGLY1 and #RareDisease , the more we will find that these diseases may hold the key to more common diseases. #NGLY1deficiency

[MamaK @agilephotos]

Precision Medicine! @mattmight @ngly1org. I have so much respect for what Christina and Matt have accomplished. Truly amazing super humans!
The part where it says "dramatic music" did make me giggle though! :D
#PrecisionMedicine https://t.co/JFQwFdVO6m

[UDN @UDNconnect]

“Science is where you turn when you have to do the impossible.” https://t.co/Up51n79PdE #RareDisease #GCchat @mattmight @ngly1org

[Global Genes @GlobalGenes]

.@mattmight of @ngly1org talks about search for answers for his son, 1st to be diagnosed with NGLY1 deficiency, efforts to repurpose medicines which have kept him seizure-free & potential of #precisionmedicine for #raredisease patients https://t.co/4S3RKtS91c via @freethinkmedia

[Jennifer Leftwich @jlftwch]

I told our story. 14 years of a diagnostic odyssey before a diagnosis of an ultra-rare disease (NGLY 1 Deficiency) thanks to sequencing! @illumina #genomics @ngly1org @gracescience

[NGLY1.org @ngly1org]

Wonderful article written in the popular Danish publication, @ingdk, on #NGLY1 and the Might's family journey. https://t.co/Ypsr2t9sb3

[NGLY1.org @ngly1org]

Meet 13-year-old Marc with the most infectious smile from Barcelona, Spain <3
https://t.co/QomoTETIbp #NGLY1

[NGLY1.org @ngly1org]

Meet Christina Lam, M.D., one of the leading researchers for #NGLY1Deficiency. We are thrilled to have her on our https://t.co/4dTKmUrmlg team!
https://t.co/4vFkazed6v
#NGLY1

[NGLY1.org @ngly1org]

Check out our updated website at https://t.co/engWpfL6kJ with newly added information on medical and therapeutic patient care for #NGLY1 kids!

[NGLY1.org @ngly1org]

We are pleased to announce and welcome Matt Fox to our Board of Directors. Matt brings years of experience in finance, biotech, drug development and personalized therapeutics to https://t.co/4dTKmUrmlg. https://t.co/8EAZ4YzNS7
#raredisease #ngly1

[Dr. Will Bearden @beardenplastics]

@mattmight @UABNews @uabprecisionmed @ngly1org Fascinating and inspiring story today on the NGLY1 deficiency journey and #PrecisionMedicine. #medicine #ComputerScience

[Danny Miller - MEPAN Foundation @mepancure]

The model to follow...RT @ngly1org: There is #hope on the horizon for #NGLY1 families! Learn more about our research initiatives at https://t.co/6jaXEExniU #raredisease

[NGLY1.org @ngly1org]

The story of how #NGLY1 was discovered in its first patient is highlighted by the @NHGRI in its 15 stories celebration! Congratulations @bertrandmight @mattmight! https://t.co/j6sOQ92Esw

[NGLY1.org @ngly1org]

Meet adorable 2-1/2 year old Willow and her #NGLY1 family from Manitoba, Canada. <3 https://t.co/CZkoN4HSG7 #raredisease #familystories

[NGLY1.org @ngly1org]

There is #hope on the horizon for #NGLY1 families! Learn more about our research initiatives at https://t.co/IS2ERHgvug #raredisease

[Yoni - יוני (and Rebecca too) @Primary_Immune]

Moving, Educational & Enlightening Presentation on The Power & Promise of DNA Sequencing in #RareDisease Diagnosis https://t.co/nvhOb4pNUD #ITRTG #genomics #DataScience #genetics #SNRTG #OpenScience #BigData #science #technology #meded @bertrandmight @mattmight @ngly1org