Manton Center Gene Discovery Core

Research center focused on understanding the genetic basis of #rarediseases and #undiagnosed conditions
Based at @bostonchildrens

[Manton Center Gene Discovery Core @MantonCenter]

This year's Manton Center Lecture @BostonChildrens Dept of Peds Grand Rounds featured @MPWasserstein who delivered a fantastic talk on the evolution & intricacies of NBS, including her project #ScreenPlus that uses biochem & genetic testing for NBS & studies the family experience

[Boxun Zhao 赵博洵 @ZhaoBoxun]

Published online at AJHG! 🎉 Our work on the "Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia". Thanks for the support and guidance from my wonderful co-mentors Drs. E. Alice Lee @EAliceLee2 and Timothy W. Yu @timyu !

[Manton Center Gene Discovery Core @MantonCenter]

Hi nurse colleagues! There's a new Global Nurse Network focused on caring for people living with #rare and #undiagnosed diseases. To join or learn more, check out their website https://t.co/GRqr7ug1XX

[Rare Disease Day @rarediseaseday]

Looking to start a conversation on rare diseases with young people? With our School Toolkit, you can use:

👨‍🏫 2 lesson plans
📗 2 books, Merlin, the Little Feline & A Friendship Story
💜colourable poster

✨ Upcoming Teenager Lesson Plan next week!

➡️ https://t.co/lSna7Lzggf

[Manton Center Gene Discovery Core @MantonCenter]

Join us as we celebrate #RareDiseaseDay tomorrow @BostonChildrens!

[Rare Voices Australia @RareVoices]

Angelina from Australia is one of the Rare Disease Day Heroes for 2023! She loves dancing, watching cartoons & playing with her big brother. Read Angelina’s story: https://t.co/VfcYIdVxCa

#RareDiseaseDay #LightUpForRare #ShareYourColours @rarediseaseday

[National Organization for Rare Disorders (NORD) @RareDiseases]

#RareDiseaseDay is coming up this month on February 28, 2023!

Want to #ShowYourStripes with NORD this Rare Disease Day? Find out how you can get involved by sharing your story, participating in #LightUpForRare, or attending an event near you: https://t.co/b4uJZWSRYv

[BCH Innovation News @BCH_Innovation]

The Early Psychosis Investigation Center (EPICenter) and the @MantonCenter @BostonChildrens seek to better understand early-onset #psychosis, affecting children as young as 4. https://t.co/4BvrvfGQXq #genetics

[Manton Center Gene Discovery Core @MantonCenter]

Manton Center Fellow @ZhaoBoxun led this project, which highlights the important role of SVA insertions in #raredisease diagnoses and supports that pathogenic variants in SRCAP landing outside the Floating Harbor Syndome locus lead to a related neurodevelopmental disorder

[European Journal of Human Genetics @ejhg_journal]

A novel disorder associated with an SVA insertion in SRCAP gene.
https://t.co/b0ReHYHFAz

[Manton Center Gene Discovery Core @MantonCenter]

@MantonCenter GDC team walking for #RareDisease #research @BostonChildrens Eversource Walk. It was a great day!🌞Our fundraiser is still open too! We're almost to our $5000 goal!

[Manton Center Gene Discovery Core @MantonCenter]

In one month, we will be walking at the @BostonChildrens Eversource Walk! We are excited to be back this year and would greatly appreciate your support as we raise funds and awareness for #RareDisease research. Learn more and donate here: https://t.co/L34zTX0Fw1

[JAX Clinical Education @JAXClinicalEd]

Will exome testing really help find a diagnosis? Learn more about genomic testing for rare diseases with these resources from the @jacksonlab Clinical Education team. #MedGeneEd22

[Manton Center Gene Discovery Core @MantonCenter]

We're so excited for the @BostonChildrens Eversource Walk this weekend! 👨🏽‍🦯🧑🏿‍🦼🚶🏿 👩🏽‍🦽 🚶🏿‍♀️There is still time to join us or contribute to our fundraising efforts here: https://t.co/sHdnlVBoqG

[Greater Massachusetts Special Needs Events @MASpecialNeeds]

For families with disabilities in the Greater Massachusetts communities. Sign up link https://t.co/w3WR9NfX7t @TMP_HMS @CCNCBrainStudy @crehanlab @TERCtweets @BIRCh_project @pabi_autism @MGH_RI @CapHls @ALLinc_org @helpkids @MantonCenter @cummingsdotcom @JFCactivities @UMass_ATC

[Intellectual & Dev Disabilities Research Center @iddrc_bch]

Important insights into Hereditary Spastic Paraplegia and key findings that may lead to novel therapies. @DariusFakhari @sahin_m @RareDiseases @BostonChildrens

https://t.co/CD08xKCc39

[Metro @MetroUK]

A team of scientists at Northwestern University in the US have accidentally created overly-aggressive mutant hamsters following a gene-editing experiment. 🐹

They were trying to increase bonding between the lovable animals but failed.

Let's Discuss 👇
https://t.co/jxOmKAMs0z

[Rare Disease Day @rarediseaseday]

Equity means:

✔️ social opportunity,
🏫 non-discrimination in education and work, and
🏥 equitable access to health, social care, diagnosis and treatment.

Join us on 28 February for a more equitable society!

➡️Check out our equity toolkit: https://t.co/vzus1LzK5N

[EveryLife Foundation @EveryLifeOrg]

The EveryLife Foundation in partnership with @IAmBiotech, The Kith Collective @KimTweetsDC,
@NHCouncil @PhRMA and in collaboration with nearly 100 community leaders, has developed a transformational resource, the “Guide to Patient Involvement in Rare Disease Therapy Development."

[Rare Disease Day @rarediseaseday]

Today marks the first day of Rare Disease Awareness Month!

Join us this month in raising awareness for the 300 million people living with a rare disease all around the world!

➡️Find out how you can get involved: https://t.co/Tx68pdZRFb

[Manton Center Gene Discovery Core @MantonCenter]

Excited to share the importance of exome reanalysis in unsolved cases. Reanalysis of Exome Data Identifies Novel SLC25A46 Variants Associated with Leigh Syndrome https://t.co/Jd14mjXcTC #mdpijpm via @JPM_MDPI