RT @EricTopol: On today's front page @nytimes

Excited to be part of this research office hour series hosted by @AsianNeuropsych Education and Research Committees! Grateful to share about the evolving partnerships 🤝developed with rare disease organizations 🧬 and other collaborators - on the same week as #RareDiseaseDay !.

Join millions who have switched to Grok.

RT @KAT6foundation: Participants needed! @rowenangphd is hosting a study examining early developmental profiles and trajectory of KAT6. Fam….

RT @GeorgeChristanz: If I had a nickel for every time a woman named Rosalind got neither the credit nor a Nobel Prize for her work, I'd hav….

RT @Catherineoscopy: This study in @Nature addresses an important issue but erases the discrimination experienced by Asians in academia by….

RT @KAT6foundation: Dr. Rowena Ng of Kennedy Krieger Institutes is looking for participants aged 5-18 for a study aiming to identify the un….

RT @CdLSFoundation: Individuals 10 years of age and older with CdLS are invited to participate in a new study with researchers from Kennedy….

RT @ChristinaGWong: Excited to share our recent paper from an @AsianNeuropsych Advocacy Committee project! Check out what survey respondent….

RT @DrSalinasLab: If one more male faculty tells how great and productive they were during their paternity leave and how many papers they p….

RT @KAT6foundation: At the KAT6 Conference, Drs. Fahrner, Harris and Ng, from the multi-disciplinary epigenetics and chromatic clinic at @J….

#academicmomlife.

48 hours, over 4500 miles ✈️ , two souvenirs for the kiddos, unfathomable number of coffee cups and cokes, and two presentations later 👩🏻‍💻Back home with my littles and love these “huggies” #aacn2024 #aacn #kat6

So excited to share our research. We thank families for their participation and @KAT6foundation for ongoing support in our work. We are excited to see our families and research colleagues at the upcoming conference soon!.

*this presentation is collaborative effort between colleagues at @KennedyKrieger @HopkinsMedicine and presented at #INS2024inNYC.

I’m forever grateful to be able to work with all the families and witness the resilience of those with the diseases and many caregivers!.

Much more work is needed to improve access to genomic services at each of these junctures.

We found that there are many different hurdles that come up at the various junctures in this diagnostic journey (e.g., access to and use of genetic consultation, testing)- ranging from financial resources, language barriers, to quality of education in the families’ neighborhood.

On #RareDiseaseDay I want to highlight our recent presentation on diversity/equity in access to genomic services, and clinical trial research engagement. The rare disease diagnostic odyssey is often a long and winding road, but particularly so for underserved communities.

@kabukisyndrome @WSSFoundation.

Late to the Twitter game but felt compelled to share an invited special issue with colleagues across @MCRI_SpeechLang @KennedyKrieger @CincyChildrens @Radboud_Uni covering various MDEMs or chromatinopathies #kabukisyndrome #KMT2D #WSS #KMT2A #rubinsteintaybisyndrome #IDD23 #SETD5.