New Syndromes
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
Am J Hum Genet. 2022 Feb 3; 109(2): 345–360
New Genes
Heterozygous variants of CLPB are a cause of severe congenital neutropenia
Blood . 2022 Feb 3;139(5):779-791
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
Am J Hum Genet . 2022 Feb 3;109(2):361-372
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue
Blood . 2022 Feb 17;139(7):1039-1051
Clinical Research
Efficacy and safety of erdafitinib in patients with locally advanced or metastatic urothelial carcinoma: long-term follow-up of a phase 2 study
Lancet Oncol . 2022 Feb;23(2):248-258
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome
N Engl J Med . 2021 Nov 18;385(21):1929-1940
Trastuzumab with trimodality treatment for oesophageal adenocarcinoma with HER2 overexpression (NRG Oncology/RTOG 1010): a multicentre, randomised, phase 3 trial
Lancet Oncol . 2022 Feb;23(2):259-269
Tofacitinib in juvenile idiopathic arthritis: a double-blind, placebo-controlled, withdrawal phase 3 randomised trial
Lancet . 2021 Nov 27;398(10315):1984-1996
Mepolizumab for Eosinophilic Granulomatosis With Polyangiitis: A European Multicenter Observational Study
Arthritis Rheumatol . 2022 Feb;74(2):295-306
Variation in Pharmacologic Management of Patients with Kawasaki Disease with Coronary Artery Aneurysms
J Pediatr . 2022 Jan;240:164-170.e1
Natural History of Facioscapulohumeral Dystrophy in Children A 2-Year Follow-up
Neurology . 2021 Nov 23;97(21):e2103-e2113
Thirty-Year Survival after Cardiac Surgery for Patients with Turner Syndrome
J Pediatr . 2021 Dec;239:187-192.e1
Effective therapy for AML with RUNX1 mutation by cotreatment with inhibitors of protein translation and BCL2
Blood . 2022 Feb 10;139(6):907-921
Trisomy 18 Trends over the Last 20 Years
J Pediatr . 2021 Dec;239:206-211.e1
Axicabtagene ciloleucel in relapsed or refractory indolent non-Hodgkin lymphoma (ZUMA-5): a single-arm, multicentre, phase 2 trial
ancet Oncol . 2022 Jan;23(1):91-103
Safety and efficacy of riluzole in spinocerebellar ataxia type 2 in France (ATRIL): a multicentre, randomised, double-blind, placebo-controlled trial
Lancet Neurol . 2022 Mar;21(3):225-233
Venetoclax plus dose-adjusted R-EPOCH for Richter syndrome
Blood . 2022 Feb 3;139(5):686-689
Diagnostic Approaches
Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension.
J Pediatr . 2022 Feb;241:68-76.e3
Therapeutic Approaches
Combination of lentiviral and genome editing technologies for the treatment of sickle cell disease
Mol Ther . 2022 Jan 5;30(1):145-163
The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C
Sci Transl Med . 2021 Dec;13(622):eabg2919
Single AAV-mediated CRISPR-Nme2Cas9 efficiently reduces mutant hTTR expression in a transgenic mouse model of transthyretin amyloidosis
Mol Ther . 2022 Jan 5;30(1):164-174
A novel and efficient tandem CD19- and CD22-directed CAR for B cell ALL
Mol Ther . 2022 Feb 2;30(2):550-563
An AAV gene therapy computes over multiple cellular inputs to enable precise targeting of multifocal hepatocellular carcinoma in mice
Sci Transl Med . 2021 Dec 15;13(624):eabh4456
Biomarkers
Biomarkers of Pulmonary Hypertension Are Altered in Children with Down Syndrome and Pulmonary Hypertension
J Pediatr . 2022 Feb;241:68-76.e3
Patient Management and Therapy
Advances and controversies in frontotemporal dementia: diagnosis, biomarkers, and therapeutic considerations
Lancet Neurol . 2022 Mar;21(3):258-272
Avoidance or adaptation of radiotherapy in patients with cancer with Li-Fraumeni and heritable TP53-related cancer syndromes
Lancet Oncol . 2021 Dec;22(12):e562-e574
Chronic pulmonary aspergillosis: A brief review
Yale J Biol Med. 2021 Dec; 94(4): 673–679
Gene therapy and gene correction: targets, progress, and challenges for treating human diseases
Gene Ther . 2022 Feb;29(1-2):3-12
Recommendations
2022 American College of Rheumatology/European Alliance of Associations for Rheumatology Classification Criteria for Eosinophilic Granulomatosis With Polyangiitis
Yale J Biol Med . 2021 Dec 29;94(4):673-679
2022 American College of Rheumatology/European Alliance of Associations for Rheumatology Classification Criteria for Granulomatosis With Polyangiitis
Arthritis Rheumatol . 2022 Mar;74(3):393-399
2022 American College of Rheumatology/European Alliance of Associations for Rheumatology classification criteria for microscopic polyangiitis
Ann Rheum Dis . 2022 Mar;81(3):321-326
Epidemiology
Epidemiology of Rare Craniofacial Anomalies: Retrospective Western Australian Population Data Linkage Study
J Pediatr . 2022 Feb;241:162-172.e9
Summary of the edition of 17 March 2022
