The metabolic genetics clinic is a crucial hub for the management of patients with inborn errors of metabolism and other complex genetic conditions. Because more patients are being identified due to the expanded diagnostics, including newborn screening, and living longer with the advent of improved therapies, the multidisciplinary metabolic genetics team has been challenged in growing proportionally to meet patients' needs. Insufficient rates of recruitment to the field and increased levels of attrition have led to concerns about a rising shortage of metabolic genetics health care providers and necessitate creative solutions to grow the workforce. Here, we describe the roles and responsibilities of the multidisciplinary metabolic genetics team and describe opportunities to support patient care and promote clinician work-life balance in a rapidly changing field.
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http://dx.doi.org/10.1002/ajmg.a.63889 | DOI Listing |
Science
January 2025
Center for Pulmonary Vascular Biology and Medicine, Pittsburgh, Heart, Lung, and Blood Vascular Medicine Institute, University of Pittsburgh, Pittsburgh, PA, USA.
Vascular inflammation regulates endothelial pathophenotypes, particularly in pulmonary arterial hypertension (PAH). Dysregulated lysosomal activity and cholesterol metabolism activate pathogenic inflammation, but their relevance to PAH is unclear. Nuclear receptor coactivator 7 () deficiency in endothelium produced an oxysterol and bile acid signature through lysosomal dysregulation, promoting endothelial pathophenotypes.
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January 2025
Sex Chromosome Biology Laboratory, The Francis Crick Institute, London, UK.
The mammalian Y chromosome is essential for male fertility, but which Y genes regulate spermatogenesis is unresolved. We addressed this by generating 13 Y-deletant mouse models. In , , and deletants, spermatogenesis was impaired.
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January 2025
Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, MA, USA.
Single-cell decisions made in complex environments underlie many bacterial phenomena. Image-based transcriptomics approaches offer an avenue to study such behaviors, yet these approaches have been hindered by the massive density of bacterial messenger RNA. To overcome this challenge, we combined 1000-fold volumetric expansion with multiplexed error-robust fluorescence in situ hybridization (MERFISH) to create bacterial-MERFISH.
View Article and Find Full Text PDFAndrogens are pleiotropic and play pivotal roles in the formation and variation of sexual phenotypes. We show that differences in circulating androgens between the three male mating morphs in ruff sandpipers are linked to 17-beta hydroxysteroid dehydrogenase 2 (HSD17B2), encoded by a gene within the supergene that determines the morphs. Low-testosterone males had higher expression in blood than high-testosterone males, as well as in brain areas related to social behaviors and testosterone production.
View Article and Find Full Text PDFPLoS One
January 2025
Department of Medical Microbiology and Parasitology, School of Medical Sciences, Universiti Sains Malaysia, Kelantan, Malaysia.
Mushrooms are considered one of the safe and effective medications because they have great economic importance due to countless biological properties. Cordyceps militaris contains bioactive compounds with antioxidant, antimicrobial and anti-cancerous properties. This study was projected to analyze the potentials of biometabolites and to extract antimicrobial peptides and protein from the C.
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