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 https://t.co/TtD1XSlidF
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.
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.
➡ https://t.co/WSm4jnOuk3
The heterogeneity of HeLa cell-lines undermines reproducibility.
HeLa cells were obtained without informed consent.
==> Researchers should avoid using HeLa cells unless required by a special justification.
The lipotype hypothesis - our newest comment from
@Gio_Dangel0 and @GioeleLaManno (@EPFL) on how membrane lipid composition impacts on signalling:
🔗https://t.co/L1VSds8LNh
The first sex-specific newborn screening program worldwide. Free accessible: https://t.co/2prXFsz64S
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.
Predictive power of NMR metabolomic profiles for multidisease outcomes https://t.co/zIee1frnL6
The predictions are from 168 circulating metabolic markers measured in 117,981 participants with ~1.4 million person-years of follow-up from the UK Biobank.
GWAS of brain structural changes across lifespan in 15,640 individuals. "The most robustly identified genes GPR139, DACH1 and APOE are associated with metabolic processes."
https://t.co/Z3z05sUlBK
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: https://t.co/o9aIBtW1i5
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: https://t.co/Pxy8UzIsDd @MDPIOpenAccess
Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need. The need for sensitive biomarkers to monitor and/or predict disease progression and evaluate therapy efficacy. On https://t.co/8XlKLKHaRC #mdpicells via @MDPIOpenAccess
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 https://t.co/xpOq7sAObK #mdpigenes@Genes_MDPI
Dear Colleagues,
I’m looking for a talented colleague in a position of a TT/Associate Professor level entitled “Mass Spectrometry for Analytical Biochemistry” with focus on spatial flux-omics and/or other relevant field of mass spectrometry. See details https://t.co/eF8vIlb8CC