Niemann-Pick Canada is a registered charity in Canada with a mission to cure Niemann-Pick diseases through the funding of promising research.
Toronto Canada
Joined September 2021
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Do you have or are suspected of having acid sphingomyelinase deficiency (ASMD)? If so, connect with our community.
#ASMD #NPD #niemannpick #NiemannPickDisease #niemannpicktypea #NiemannPicktypeB
It's Global Niemann-Pick Disease Awareness Day! Niemann-Pick Canada is a member of the International Niemann-Pick Disease Alliance which consolidates our voices in support and awareness of the NP Community globally. #niemannpickcanada #ASMD #NPC
Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease caused by deficient activity of acid sphingomyelinase (ASM) enzyme, leading to the accumulation of varying degrees of sphingomyelin.
youtube.com/watch?v=B1UA3gU_…
Niemann-Pick Canada retweeted
Today on the #SickKidsVS Podcast: 5-year-old Michael is one of less than 100 people in the world with #SPG50, an ultrarare genetic disease. In 2022, a SickKids team dosed Michael with the first-ever #genetherapy in an unprecedented #clinicaltrial. Listen: bit.ly/42z5ghk
Niemann-Pick Canada retweeted
Michael's story is an incredible example of the impact #PrecisionChildHealth can have for a family. His trial is a crucial proof-of-concept for making truly individualized medicine a reality for every @SickKidsNews patient. #SKResearch
A SickKids team conducted a single-patient #GeneTherapy #ClinicalTrial for Michael Pirovolakis’ ultra-rare disease, #SPG50. Michael and his #SKResearch team are carving a path for #PrecisionChildHealth – individualized care for every patient. Read more: bit.ly/3PEk73P
Niemann-Pick Canada retweeted
A SickKids team conducted a single-patient #GeneTherapy #ClinicalTrial for Michael Pirovolakis’ ultra-rare disease, #SPG50. Michael and his #SKResearch team are carving a path for #PrecisionChildHealth – individualized care for every patient. Read more: bit.ly/3PEk73P
Niemann-Pick Canada retweeted
AllStripes is partnering with the @Firefly_Fund, the @nnpdf, @NP_Canada and Ara Parseghian Medical Research Fund to create a research database that will power multiple NPC research studies.
Niemann-Pick Canada retweeted
The first research project will focus on if early diagnosis and intervention result in better outcomes and quality of life for patients with NPC. Learn more: allstripes.com/npc
Niemann-Pick Canada retweeted
SickKids is thrilled to once again be named one of the World's Best Hospitals - Top Specialized by @Newsweek!
What makes us top-notch is our dedicated and skilled staff. Join our incredible team: sickkids.ca/careers
Niemann-Pick Canada retweeted
#SKResearch is cracking the genetic code. A new study in @NatureBiotech features a novel #CRISPR #genomeediting strategy that helps classify whether #geneticvariants are benign or disease-causing. bit.ly/3HABJJN #PrecisionChildHealth
Niemann-Pick Canada retweeted
Congratulations to Drs. @Ji_young_Youn, Jeehye Park & Hoon-Ki Sung who have received Discovery Grants from @ALSCanada and @BrainCanada to support their laboratory research projects and contribute to advancing #ALS research. #SKResearch
Excited to share that today, in partnership with @BrainCanada, we are investing $1.125M in 9 Discovery Grants that will propel the field of #ALS research forward in Canada & improve the lives of people living with ALS and their families. Learn more: bit.ly/3p0o08L
Thank you @SickKidsNews for your dedication to the INPDR and your commitment to children afflicted with Niemann-Pick disease!!
As we head into a New Year we thank all clinicians and teams worldwide for their dedication to INPDR, with special commendation to @sickkids Canada for not only enrolling and following up patients but for adding the valuable retrospective data to the history of each patient!
Niemann-Pick Canada retweeted
As we head into a New Year we thank all clinicians and teams worldwide for their dedication to INPDR, with special commendation to @sickkids Canada for not only enrolling and following up patients but for adding the valuable retrospective data to the history of each patient!
Niemann-Pick Canada retweeted
The first of the papers discussed is: Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational study
Marc C. Patterson, et al
doi.org/10.1002/jimd.12245
Niemann-Pick Canada retweeted
Have you listened to our latest podcast looking at treatment challenges in #NPC including Arimoclomal & Miglustat & the challenges of screening and drug regulation? @niemannpickuk
@niemannpickoz
@nnpdf
@inpda_org
@colognalab
@niemannpickrf
@NP_canada
@firefly_fund
@bpamandrews
It’s #poddrop Friday. Dr Marc Patterson and Dr Eugen Mengel explain the challenges of treating Niemann Pick Type C.
Soundcloud: soundcloud.com/user-10900612…
Apple: podcasts.apple.com/gb/podcas…
Spotify: open.spotify.com/episode/4WS…
(And everywhere else - search for JIMD Podcasts)
Niemann-Pick Canada retweeted
INPDA recently held its Biennial meeting to discuss its goals and plans for the coming year. Council members were energized by the connections to one another and the shared commitment to advancing knowledge and treatment of Niemann-Pick diseases.
#INPDA #NiemannPick
Niemann-Pick Canada retweeted
Orphazyme has announced the publication of its results from the Phase 2/3 trial of arimoclomol in Niemann-Pick disease type C in the Journal of Inherited Metabolic Disease. Read complete announcement at ow.ly/h22Z50FXezO
