Maddie Gillentine, PhD
@maddiegillentine.bsky.social
Geneticist | Research Director @ HNRNP Family Foundation
Interested in all things rare disease.
BA from Kalamazoo College | PhD from Baylor College of Medicine. Postdoc at UW |Former variant scientist.
Interested in all things rare disease.
BA from Kalamazoo College | PhD from Baylor College of Medicine. Postdoc at UW |Former variant scientist.
Reposted by Maddie Gillentine, PhD
3 things autistic kids will actually never do:
1. Pick up a roadkill bear from the side of the road and put it in their van to eat
2. Realize they could get in trouble for eating the bear
3. Leave it in Central Park to frame a cyclist for its murder
1. Pick up a roadkill bear from the side of the road and put it in their van to eat
2. Realize they could get in trouble for eating the bear
3. Leave it in Central Park to frame a cyclist for its murder
WATCH | RFK Jr claims autistic children will never go on dates or pay taxes
Read the recent CDC autism report here: www.independent.co.uk/news/world/a...
Read the recent CDC autism report here: www.independent.co.uk/news/world/a...
April 17, 2025 at 4:38 AM
3 things autistic kids will actually never do:
1. Pick up a roadkill bear from the side of the road and put it in their van to eat
2. Realize they could get in trouble for eating the bear
3. Leave it in Central Park to frame a cyclist for its murder
1. Pick up a roadkill bear from the side of the road and put it in their van to eat
2. Realize they could get in trouble for eating the bear
3. Leave it in Central Park to frame a cyclist for its murder
Reposted by Maddie Gillentine, PhD
My adult daughter Rachel works everyday, pays taxes, loves going to movies with her friends, and listens to awful (IMO) music.
Our U.S. Dept HHS has lost all of its humanity, compassion, and intellectual curiosity
Our U.S. Dept HHS has lost all of its humanity, compassion, and intellectual curiosity
April 17, 2025 at 11:22 AM
My adult daughter Rachel works everyday, pays taxes, loves going to movies with her friends, and listens to awful (IMO) music.
Our U.S. Dept HHS has lost all of its humanity, compassion, and intellectual curiosity
Our U.S. Dept HHS has lost all of its humanity, compassion, and intellectual curiosity
Reposted by Maddie Gillentine, PhD
GeneReviews is a vital resource, the government needs to keep their hands off of it!
April 8, 2025 at 8:24 PM
GeneReviews is a vital resource, the government needs to keep their hands off of it!
Reposted by Maddie Gillentine, PhD
Check out our "Gene therapies for neurogenetic disorders" review at @cp-trendsmolecmed.bsky.social
So fun to write!
We talk a lot about #RareDisease patient foundations and clinical trial readiness because it matters a lot to us 💜🦓
www.sciencedirect.com/science/arti...
So fun to write!
We talk a lot about #RareDisease patient foundations and clinical trial readiness because it matters a lot to us 💜🦓
www.sciencedirect.com/science/arti...
February 17, 2025 at 2:59 PM
Check out our "Gene therapies for neurogenetic disorders" review at @cp-trendsmolecmed.bsky.social
So fun to write!
We talk a lot about #RareDisease patient foundations and clinical trial readiness because it matters a lot to us 💜🦓
www.sciencedirect.com/science/arti...
So fun to write!
We talk a lot about #RareDisease patient foundations and clinical trial readiness because it matters a lot to us 💜🦓
www.sciencedirect.com/science/arti...
Reposted by Maddie Gillentine, PhD
It’s been a tough few weeks. My 10yo daughter was diagnosed with a very rare, aggressive cancer called interdigitating dendritic cell sarcoma (IDCS). I’m reaching out to identify clinicians/patients who have encountered pediatric IDCS or other (non-LCH) dendritic or histiocytic sarcomas cases.
February 8, 2025 at 9:21 PM
It’s been a tough few weeks. My 10yo daughter was diagnosed with a very rare, aggressive cancer called interdigitating dendritic cell sarcoma (IDCS). I’m reaching out to identify clinicians/patients who have encountered pediatric IDCS or other (non-LCH) dendritic or histiocytic sarcomas cases.
Reposted by Maddie Gillentine, PhD
HNRNP Family Foundation is now on BlueSky! Follow for HNRNP-Related Neurodevelopmental Disorders research and event updates! #raredisease #genetics
January 22, 2025 at 7:30 PM
HNRNP Family Foundation is now on BlueSky! Follow for HNRNP-Related Neurodevelopmental Disorders research and event updates! #raredisease #genetics
Reposted by Maddie Gillentine, PhD
Two top Canadian ministers will meet with members of President-elect Trump’s circle about a border security plan in hopes to ward off Trump’s threats to impose economically damaging tariffs on imports from Canada.
Canadian Ministers to Meet Trump Aides at Mar-a-Lago to Discuss Border, and Tariffs
President-elect Donald J. Trump has threatened to impose tariffs on Canadian exports unless the country stops the flow of migrants and fentanyl to the U.S.
www.nytimes.com
December 27, 2024 at 9:15 PM
Two top Canadian ministers will meet with members of President-elect Trump’s circle about a border security plan in hopes to ward off Trump’s threats to impose economically damaging tariffs on imports from Canada.
I saw a recipe calling crinkle cookies “earthquake cookies” which is so much better of a name
December 24, 2024 at 5:46 AM
I saw a recipe calling crinkle cookies “earthquake cookies” which is so much better of a name
I’ll be at the first panel for the PNRI/Seattle Children’s/UW Rare Disease Day symposium! Should be a great event for the Seattle rare disease community!
Calling all rare disease researchers, clinicians & advocates! Join us on Feb 28, 2025, for a FREE Rare Disease Day symposium in Seattle. Talks, posters & a reception—connect, share, & collaborate! RSVP & submit poster details by Jan 31 at: pnri.org/rarediseaseday2025
#RareDiseaseDay #RDD2025
#RareDiseaseDay #RDD2025
December 20, 2024 at 6:11 AM
I’ll be at the first panel for the PNRI/Seattle Children’s/UW Rare Disease Day symposium! Should be a great event for the Seattle rare disease community!
Excited to rep the HNRNP Family Foundation at AES this week! If you’re interested in HNRNP-Related Neurodevelopmental Disorders, reach out so we can chat! We are always looking for additional clinical, research, and advocacy partners!
December 5, 2024 at 8:59 PM
Excited to rep the HNRNP Family Foundation at AES this week! If you’re interested in HNRNP-Related Neurodevelopmental Disorders, reach out so we can chat! We are always looking for additional clinical, research, and advocacy partners!
New #HNRNP paper out! We’ve learned a lot about SYNCRIP/HNRNPQ-Related Neurodevelopmental Disorder in the last few years! www.sciencedirect.com/science/arti...
An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder.
Disruption of genes within the HNRNP gene family has been observed in neurodevelopmental and neurodegenerative diseases. The HNRNP-Related Neurodevelo…
www.sciencedirect.com
December 5, 2024 at 2:32 AM
New #HNRNP paper out! We’ve learned a lot about SYNCRIP/HNRNPQ-Related Neurodevelopmental Disorder in the last few years! www.sciencedirect.com/science/arti...
Reposted by Maddie Gillentine, PhD
Today in Hell Yes, Research!
When autistic children learned about autism "in a neutral and non-stigmatizing manner," & from autistic people with lived experience, it improved their self-understanding, sense of belonging, and their communication/self-advocacy skills.
www.medrxiv.org/content/10.1...
When autistic children learned about autism "in a neutral and non-stigmatizing manner," & from autistic people with lived experience, it improved their self-understanding, sense of belonging, and their communication/self-advocacy skills.
www.medrxiv.org/content/10.1...
“I like being autistic”: Assessing the benefit of autistic-led psychoeducation for autistic children
Background Despite receiving autism diagnoses in early life, autistic children are not routinely supported to understand these diagnoses post-diagnostically ([1][1]). Consequently, they typically grow...
www.medrxiv.org
December 2, 2024 at 9:58 PM
Today in Hell Yes, Research!
When autistic children learned about autism "in a neutral and non-stigmatizing manner," & from autistic people with lived experience, it improved their self-understanding, sense of belonging, and their communication/self-advocacy skills.
www.medrxiv.org/content/10.1...
When autistic children learned about autism "in a neutral and non-stigmatizing manner," & from autistic people with lived experience, it improved their self-understanding, sense of belonging, and their communication/self-advocacy skills.
www.medrxiv.org/content/10.1...