I had a wonderful time viewing No Ordinary Campaign noordinarycampaign.com in San Francisco at the where I got to briefly meet Brian Wallach I AM ALS and see my #c9orf72 friends Jean and Mindy, There is hope for all of us affected by #als with all of us acting together.

Had much fun presenting my poster at #alsmndsymp ! Human stem cell-derived microfluidic 3D triculture model of C9orf72 ALS rolls off the tongue.

Research suggests #ALS and #FTD are connected. Changes in the same gene, C9Orf72, are found in both diseases.🧬
Learning more about this overlap may help lead to treatments for both diseases.
At #alsmndsymp , there will be 3 joint sessions with International Society for Frontotemporal Dementias discussing ALS-FTD research.

Super proud to watch one of my great PhD students, the Twitterless Isabel Hubbard, giving a fantastic talk at #TAGC24 . Non cell autonomous effects of C9orf72 in glial—>neuron toxicity in our fly ALS/FTD models.

At our recent #Neuropsychology early career award, Sean O'Farrell was commended for his poster and presentation 'Cognition in people with ALS carrying a C9orf72 repeat expansion'. Well done to Sean. We look forward to seeing what he does next.

📢Check out our latest article on #ALS in #Finland ! 🔍 ALS incidence among highest in the world. High prevalence of #C9orf72 mutation carriers.

Great collaboration, lead by Dr. Sipilä Pohjois-Karjalan hyvinvointialue – Siun sote!

🔗Read the article here: karger.com/ned/article-ab…

#neurology #epidemiology

Another great CAN ACN meeting! Thanks to everyone that stopped by my poster on synaptic dysfunction in C9orf72 ALS models, and a special thanks to the organizers for a fantastic conference.

$SGMO + $AZN ALS Program @ #ASGCT24
Selective Repression of #C9ORF72 Repeat Expansion-Containing Sense and Antisense Transcripts in an #ALS

We have just updated our C9orf72 clinical features checklist with this paper tinyurl.com/34fwny68

In March we heard from researchers who suggested a nasal spray could be developed to treat #C9orf72 #MND / #FTD .

In early laboratory work, they found that a small molecule, called a peptide, could prevent the death of nerve cells.

Read more:
mndresearch.blog/2023/03/24/beh…

#2023wrapped

Huntington phenotypes to watch for: SCA17, C9orf72, JCH3, and chorea acanthocytosis. Great review by Prof. Jose Luis Pedroso at the #pascongress ⁦MDS⁩

Yesterday I had some visitors from the Babson College Phi Delta Theta chapter. Lou Gherig was brother in Phi Delta Theta in his days at Columbia University. It was great to be in a fraternity atmosphere again even though I was in a different fraternity.

'Altered plasma protein profiles in genetic #FTD – a GENFI study'

Abbe Ullgren, Linn Öijerstedt ... Caroline Graff GENFI Karolinska Institutet #FrontotemporalDementia #biomarkers #C9orf72

bit.ly/3QZ0OWt

Repeat expansion disorders are characterized by complex repetitive repeats. C9orf72 is a common pathogenic mutation for both Amyotrophic lateral sclerosis (ALS) & Frontotemporal lobar degeneration (FTLD).

It's important to be able to characterized the repeat lengths & sequence

Babu et al. evaluate the safety, pharmacokinetics, and pharmacodynamic activity of apilimod dimesylate in C9orf72 ALS in a randomized, biomarker-endpoint phase 2a trial. tinyurl.com/3sr799dk

A study published earlier this year by researchers at The University of Sheffield discovered that the production of toxic proteins associated with FTD caused by a C9orf72 gene mutation can be blocked at the cellular level.

Click the link to learn more: bit.ly/3Sre6e9

Meet Dr. Philip McGoldrick – recipient of the 2022 ALS Canada-Brain Canada Career Transition Award. Inspired to study neurodegenerative disease at a young age, his studies explore mutations in the C9ORF72 gene – the most common genetic cause of ALS. Read: bit.ly/3FeKkmF.

Congratulations to Jaskaran singh for receiving a Pierre Auger Morissette Capacity-Building Award! Jaskaran’s research investigates the relationship between the C9orf72 gene and ALS using a zebrafish model. Learn more: braincanada.ca/funded_grants/…. #RisingStarTuesday   #RiseandShine

La puntuación genética acumulada y el estado de repetición de C9orf72 contribuyen de forma independiente al riesgo de esclerosis lateral amiotrófica en 2 estudios de casos y controles

fundela.es/noticias/inves…

We are honored to have received an in-kind grant from Target ALS & The ALS Association to support further development of condensate-modifying drugs (c-mods) in vivo at The Jackson Laboratory, using a chronic C9orf72 ALS animal model.
Read the Press Release: dewpointx.com/dewpoint-thera…