Novel biallelic loss of EEF1B2 function links to autosomal recessive intellecaual disability
- To read more about “Autosomal recessive non-syndromic intellectual disability”
- Hum Mutat . 2022 Mar;43(3):299-304
New Genes
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia
- To read more about “Early-onset generalized limb-onset dystonia”
- Hum Mol Genet . 2022 Feb 21;31(4):614-624
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice
- To read more about “Autosomal recessive primary microcephaly”
- PLoS Genet . 2022 Mar 17;18(3):e1010114
Therapeutic Approaches
Lung-selective mRNA delivery of synthetic lipid nanoparticles for the treatment of pulmonary lymphangioleiomyomatosis
- To read more about “Lymphangioleiomyomatosis”
- Proc Natl Acad Sci U S A . 2022 Feb 22;119(8):e2116271119
Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy.
- To read more about “Duchenne muscular dystrophy”
- Proc Natl Acad Sci U S A . 2022 Mar 1;119(9):e2112546119
Development of DG9 peptide-conjugated single- and multi-exon skipping therapies for the treatment of Duchenne muscular dystrophy
- To read more about “Duchenne muscular dystrophy”
- Proc Natl Acad Sci U S A . 2022 Mar 1;119(9):e2112546119
Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome
- To read more about “Vascular Ehlers-Danlos syndrome”
- PLoS Genet . 2022 Mar 4;18(3):e1010059
Blocking GM-CSF receptor α with mavrilimumab reduces infiltrating cells, pro-inflammatory markers and neoangiogenesis in ex vivo cultured arteries from patients with giant cell arteritis
- To read more about “Giant cell arteritis”
- Ann Rheum Dis . 2022 Apr;81(4):524-536
Anti-CD45RC antibody immunotherapy prevents and treats experimental autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy syndrome
- To read more about “Autoimmune polyendocrinopathy type 1”
- J Clin Invest . 2022 Apr 1;132(7):e156507
Biomarkers
Crinecerfont Lowers Elevated Hormone Markers in Adults with 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia
- To read more about “Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency”
- J Clin Endocrinol Metab . 2022 Feb 17;107(3):801-812
Diagnostic Approaches
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders
- Orphanet J Rare Dis . 2022 Feb 19;17(1):60
Novel computer aided diagnostic models on multimodality medical images to differentiate well differentiated liposarcomas from lipomas approached by deep learning methods
- To read more about “Liposarcoma”
- Orphanet J Rare Dis . 2022 Apr 7;17(1):158
Patient Management and Therapy
Potential influences on optimizing long-term musculoskeletal health in children and adolescents with X-linked hypophosphatemia (XLH)
- To read more about “X-linked hypophosphatemia”
- Orphanet J Rare Dis . 2022 Jan 31;17(1):30
Expert opinion on the recognition, diagnosis and management of children and adults with Fabry disease: a multidisciplinary Turkey perspective
- To read more about “Fabry disease”
- Orphanet J Rare Dis . 2022 Mar 2;17(1):90
Systemic therapy of necrobiotic xanthogranuloma: a systematic review
- To read more about “Necrobiotic xanthogranuloma”
- Orphanet J Rare Dis . 2022 Mar 24;17(1):132
Impact of achondroplasia on Latin American patients: a systematic review and meta-analysis of observational studies
- To read more about “Achondroplasia”
Epidemiology
The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers.
- To read more about “Mucopolysaccharidosis”
- Orphanet J Rare Dis . 2022 Mar 24;17(1):136
Quality of Life
Health-related quality of life, direct medical and societal costs among children with moderate or severe haemophilia in Europe: multivariable models of the CHESS-PAEDs study
- To read more about “Hemophilia”
- Orphanet J Rare Dis . 2022 Apr 4;17(1):150
Experienced fatigue in people with rare disorders: a scoping review on characteristics of existing research
- Orphanet J Rare Dis . 2022 Jan 10;17(1):14
Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living
- To read more about “Classic galactosemia”
- Orphanet J Rare Dis . 2022 Mar 28;17(1):138