Natalie

Pediatric neurogenetic counselor 🧬🧠

[Ingo Helbig @IngoHelbig]

We are extremely excited to be a part of #ENDD

…this will dramatically change our ability to treat #genetic #epilepsies and #NDD

Make Data Speak in #RareDiseases

#ENGIN @curestxbp1 @cureSYNGAP1

@Prosser_Lab @lab_davidson @ChildrensPhila @PennMedicine

[Natalie @NatGinnGC]

Can you tell @JulieXXian has the bioinformatic brain behind #CHD2 while I have the clinically oriented brain … because I can 🧠

[Julie Xian @JulieXXian]

...#precision #medicine in the epilepsies is not limited to gene therapy and ASOs.

We can analyze "genetically informed" treatment strategies at scale using #RWD in specific genetic epilepsies.

https://t.co/FZzMdbsM2a

[Natalie @NatGinnGC]

Our #CHD2 individuals are resilient - we didn’t need fancy stats to figure that one out

Tracking developmental milestones helps portray the suspected dev trajectory

From our current data, almost all individuals achieve walking independently & have expressive language skills

[Natalie @NatGinnGC]

We all have a New Year’s resolution … @IngoHelbig and lab prefers a 4 week #Ciitizen data “hackathon” to ring in the New Year

No better way to start off 2023 than with exciting new data for #CHD2

#CHD2 awareness day

[Ingo Helbig @IngoHelbig]

...here is a brief preview of the phenotypic spectrum of #CHD2 in the #Ciitizen dataset

...this is based on >97,000 phenotypic annotations across more than 330 patient years.

...generated in record time by @KimThalwitzer @JMagielski @JulieXXian @SarahRuggieroGC @JillianLMcKee

[Natalie @NatGinnGC]

90% of seizure onset occurs before or by the age of 7 years in individuals with #CHD2

Understanding the onset, type, and frequency of seizures can help families and clinicians in many ways … including preparedness, prognosis, treatment, and tailoring further research endeavors

[Julie Xian @JulieXXian]

Join NOW for the @curechd2 Webinar by @IngoHelbig on "Analyzing Real World Data to Understand #CHD2-Related Disorders"...

https://t.co/0e1AhuGy89

[Coalition to Cure CHD2 @curechd2]

We are so excited for this! Thank you @IngoHelbig !

[Ana Cristancho, MD, PhD @AnaGCristancho]

Lab website is up! Please check it out & retweet!

We are #hiring #postdocjobs and #technician for innovative projects to understand #epigenetic mechanisms that may be able to treat #prenatal / #neonatal #braininjury, like #hypoxia or #inflammation!

https://t.co/qOMx1KYpCP

[Julie Xian @JulieXXian]

Here's a brief history of epilepsy gene discovery and our Editorial on "Guardians of the Epilepsy Genome"

https://t.co/vo4Ikfd4Ys

[Ingo Helbig @IngoHelbig]

SYNGAP1 – three things to know in 2023 | Beyond the Ion Channel
https://t.co/3UZpe5vYqB

[Ingo Helbig @IngoHelbig]

...here is the blog post and updated #Epilepsiome gene page on #SYNGAP1 by @NatGinnGC