TeamALD of the Amsterdam UMC is focused on all aspects of Adrenoleukodystrophy. #newbornscreening #biomarkers #clinicaltrials #patientcare #research #ALD
Amsterdam
Joined June 2017
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Newborn screening undoubtedly improves the outcomes for many male patients. However, it also highlights new challenges, when the result is unclear. Resolving this issue requires collaboration among diagnostic labs, treating physicians, and researchers. 👉 bit.ly/459Nq6P
Population and newborn screening enable disease variant detection and timely treatment. However, screening may also uncover variants of uncertain significance (VUS). Identifying VUS poses a challenge in terms of diagnostic uncertainty and confusion. Free bit.ly/459Nq6P
TeamALD retweeted
De #hielprik bij jongens wordt uitgebreid: pasgeboren jongens worden vanaf 1 oktober 2023 namelijk ook getest op de #stofwisselingsziekte adrenoleukodystrofie (ALD). ALD is de eerste geslachtsgebonden ziekte die wordt opgenomen in de hielprik #screening. bit.ly/3LivoI7
Yes, we did it!! Following the highly successful pilot in 2021, the State Secretary of Health, Welfare and Sport (@MinVWS) has decided to add #adrenoleukodystrophy #ALD to the national newborn screening panel from October 1st, 2023.
TeamALD retweeted
Vanaf 1 oktober 2023 wordt de #stofwisselingsziekte adrenoleukodystrofie (#ALD) toegevoegd aan de hielprikscreening. Het bloed van pasgeboren jongens wordt dan ook getest op ALD. Als de #ziekte op tijd wordt ontdekt, is deze bij jongens behandelbaar.
➡ rivm.nl/nieuws/stofwisseling…
Toevoeging van de #stofwisselingsziekte #ALD aan de #hielprik komt dichterbij. De voorbereiding voor het aanbieden van het implementatieplan aan @MinVWS is in volle gang. Met vandaag een stakeholdermeeting in @amsterdamumc. #gezondheidswinst @Metakids @Stofwissel_VKS @rivm
TeamALD retweeted
New #podcast: @StephanKempNL returns to tell us about the pilot project for Sex-specific newborn screening for X-linked ALD in the Netherlands.
Soundcloud: soundcloud.com/user-10900612…
Apple: podcasts.apple.com/gb/podcas…
Spotify: open.spotify.com/episode/4Ar…
#scicomm #newbornscreening
The first sex-specific newborn screening program worldwide. Free accessible: bit.ly/3TVrs1h
Screening of 71 208 newborns resulted in the identification of four boys with adrenoleukodystrophy. The algorithm is ready for nationwide ALD screening in the Netherlands.
TeamALD retweeted
Via @GreenJournal: Experts suggest coordinating efforts to improve the diagnosis and management of patients with X-linked #adrenoleukodystrophy, a rare and unpredictable disease: bit.ly/3eIndqT
#neurology @neurotwitter @AANmember @ald_team
Treatment of cerebral ALD: a highly informative review of the potential risks and benefits of hematopoietic stem cell transplant and lentivirus-based gene therapy. Free paper: bit.ly/3BU3ugP
Viruses hijack host lipid metabolism for virus production by blocking ABCD1. Study shows no link between EBV and cerebral ALD, but other viruses - including coronavirus - remain environmental factors that may contribute to cerebral onset. Free paper: go.nature.com/3eGt0Ng
TeamALD retweeted
Onderzoek dat levens redt: vanaf 2023 kan de metabole ziekte ALD in de hielprik worden opgenomen. Met een succesvolle proef zijn al 4 pasgeboren patiëntjes opgespoord. Hoofdonderzoeker Stephan Kemp vertelt: buff.ly/3Ne9rZm
An updated analysis of the known variants in ABCD1 as catalogued over the past 20 years. We illustrate the importance of collaboration and utility of the database as a scientific, clinical, and ALD-community-wide resource. Free: bit.ly/3qEJbhy @MDPIOpenAccess
TeamALD retweeted
The JIMD Podcast is a fortnightly podcast intended to bring you insights from the world of IMD.
Soundcloud: soundcloud.com/user-10900612…
Apple: podcasts.apple.com/sa/podcas…
Spotify: open.spotify.com/show/61Aeha…
Google: podcasts.google.com/feed/aHR…
Or search for 'JIMD Podcasts' in google.
TeamALD retweeted
Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need. The need for sensitive biomarkers to monitor and/or predict disease progression and evaluate therapy efficacy. On mdpi.com/1391878 #mdpicells via @MDPIOpenAccess
TeamALD retweeted
Identification of a variant of unknown significance - without a family history of disease - results in a diagnostic dilemma. Biochemical studies in #ALD fibroblasts classified 15/17 VUS in ABCD1 as likely pathogenic/benign. Free at bit.ly/3pexLPD #mdpigenes @Genes_MDPI
TeamALD retweeted
Another new #Visualabstract
Differential outcomes for frontal versus posterior demyelination in childhood cerebral #adrenoleukodystrophy
Thank you to Samuel Kroening who put this together.
Guptam et al
doi.org/10.1002/jimd.12435
@ald_team @ALD_Facts
TeamALD retweeted
Multi-stakeholders perspective qualitative study on newborn screening expansion identified 2 types of perspectives: a “targeted-scope” vs. “broad scope” view regarding health gain and individual parental autonomy. Free at bit.ly/3abdgMN @FrontPediatrics @ZonMw @rivm
TeamALD retweeted
Yorrick Jaspers presents our work on C26:0-lysoPC as a superior biomarker - compared to the traditional plasma VLCFA analysis - for the diagnosis of peroxisomal disorders at the #SSIEM2021 Check our #openaccess paper: bit.ly/2X9PNpg @FrontiersIn @YorrickJaspers
The Greyzone: In the first ALD Family podcast @StephanKempNL and @nicadler discuss the ALD variant database, newborn screening, the possibility of variants having milder phenotypes and what a dj has to do with ALD.
aldfamilyweekend.com/podcast
👇 this #ALD study is a collaboration of 4 leading ALD research group, includes 3 disease models (🐟, patient cells and 🐭), reveals a cool pharmacological inducible biochemical escape route for VLCFA and is published as #openaccess 👇
Fantastic to see this project that started 5 y ago published in Journal of Clinical Investigation @jclinicalinvest
Pharmacological SCD1 activation in ALD zebrafish, human fibroblasts and mice corrects saturated VLCFA by shifting the synthesis to non-toxic mono-unsaturated VLCFA
