Bi-allelic variants in RALGAPA1 cause profound neurodevelopmental disability, muscular hypotonia, infantile spasms, and feeding abnormalities
- Am J Hum Genet. 2020 Feb 6;106(2):246-255
New Syndromes
New Genes
TTC12 loss-of-function mutations cause primary ciliary dyskinesia and unveil distinct dynein assembly mechanisms in motile cilia versus flagella
- To read more about “Primary ciliary dyskinesia”
- Am J Hum Genet. 2020 Feb 6;106(2):153-169
Bi-allelic loss-of-function mutations in JAM2 cause primary familial brain calcification
- To read more about “Calcinose striopallidodentée bilatérale”
- Brain. 2020 Feb 1;143(2):491-502
Bi-allelic variants in TKFC encoding triokinase/FMN cyclase are associated with cataracts and multisystem disease
- To read more about “Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome”
- Am J Hum Genet. 2020 Feb 6;106(2):256-263
Clinical Research
Hurler syndrome : a 2-year open-label study showed that laronidase seemed to improve growth and 6-min walk test performance in participants without anti-drug antibodies
- To read more about “Hurler syndrome”
- Pediatr Res. 2020 Jan;87(1):104-111
Systemic AL amyloidosis : a prospective observational study of 915 patients treated with upfront bortezomib showed that the overall response rate was 65%
- To read more about “AL amyloidosis”
- Blood. 2019 Dec 19;134(25):2271-2280
Beta-thalassemia : a three-year follow-up report showed that incidental asymptomatic intracranial aneurysms do not seem to be associated with an increased risk of complications
- To read more about “Beta-thalassemia”
- Orphanet J Rare Dis. 2020 Jan 20;15(1):21
Huntington’s disease : a study of the effect of impulsivity and inhibitory control deficits in the saccadic behavior of premanifest Huntington’s disease individuals
- To read more about “Huntington disease”
- Orphanet J Rare Dis. 2019; 14: 246
Sickle cell anemia : a study of the beneficial effects of endurance exercise training on skeletal muscle microvasculature
- To read more about “Sickle cell anemia”
- Blood. 2019 Dec 19;134(25):2233-2241
ATTRV122I amyloidosis : a retrospective study of clinical characteristics and prognosis of Chinese patients
- To read more about “ATTRV122I amyloidosis”
- Orphanet J Rare Dis. 2019 Nov 12;14(1):251
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy
- Orphanet J Rare Dis. 2019 Nov 12;14(1):251
Acute lymphoblastic leukemia : a study showed that CD19-specific CAR T-cell therapy in pediatric and young adult patient with relapsed/refractory B-cell acute lymphoblastic leukemia was safe
- To read more about “Acute lymphoblastic leukemia”
- Blood. 2019 Dec 26;134(26):2361-2368
Biomarkers
Arrhythmogenic right ventricular cardiomyopathy : a study showed that elevated plasma β-hydroxybutyrate predicted adverse outcomes and disease progression
- To read more about “Arrhythmogenic right ventricular cardiomyopathy”
- Sci Transl Med. 2020 Feb 12;12(530)
Systemic-onset juvenile idiopathic arthritis : adenosine deaminase 2 as a biomarker of macrophage activation syndrome
- To read more about “Systemic-onset juvenile idiopathic arthritis”
- Ann Rheum Dis. 2020 Feb;79(2):225-231
Therapeutic Approaches
Canavan disease : a study showed that antisense oligonucleotide reversed leukodystrophy in Canavan disease mice
- To read more about “Canavan disease”
- Ann Neurol. 2020 Mar;87(3):480-485
Osteogenesis imperfecta : a study showed that combination therapy in the Col1a2G610C mouse model of revealed an additive effect of enhancing LRP5 signaling and inhibiting TGFβ signaling on trabecular bone but not on cortical bone
- Bone. 2020 Feb;131:115084
Osteogenesis imperfecta : a study showed that muscle contraction induced osteogenic levels of cortical bone strain despite muscle weakness in a mouse model
- To read more about “Osteogenesis imperfecta”
- Bone. 2020 Mar;132:115061
Diagnostic Appraoches
Idiopathic inflammatory myopathy : first external validation of sensitivity and specificity of the European League Against Rheumatism (EULAR)/American College of Rheumatology (ACR) classification criteria with a Japanese cohort
. doi: 10.1136/annrheumdis-2019-215488. Epub 2019 Nov 6.
- To read more about “Idiopathic inflammatory myopathy”
- Ann Rheum Dis. 2020 Mar;79(3):387-392
Systemic lupus erythematosus (SLE) : the ACR-1997, SLICC-2012 and EULAR/ACR-2019 criteria classify non-overlapping groups of patients
- To read more about “Systemic lupus erythematosus”
- Ann Rheum Dis. 2020 Feb;79(2):232-241
Patient Management and Therapy
Neuronal ceroid lipofuscinosis : an update on the progress of preclinical models for guiding therapeutic management
- To read more about “Neuronal ceroid lipofuscinosis”
- Expert Opinion on Orphan Drugs Volume 7, 2019 - Issue 12 : 555-568
Cystic fibrosis : a review of preventative and treatment options in Gram negative infections
- To read more about “Cystic fibrosis”
- Expert Opin Orphan Drugs. 2020 Jan 22;8(1): 11-26
How I treat acute myeloid leukemia in the era of new drugs
- To read more about “Acute myeloid leukemia”
- Blood. 2020 Jan 9;135(2):85-96
How I treat patients with hereditary antithrombin deficiency
- To read more about “Hereditary thrombophilia due to congenital antithrombin deficiency”
- Blood. 2019 Dec 26;134(26):2346-2353
How I treat sickle cell disease with hematopoietic cell transplantation
- To read more about “Sickle cell anemia”
- Blood. 2019 Dec 19;134(25):2249-2260
How I treat Waldentröm macroglobulinemia
- To read more about “Waldenström macroglobulinemia”
- Blood. 2019 Dec 19;134(25):2249-2260
Adult-onset Still disease : a review of current trends and new therapeutic perspectives of inhibiting inflammatory cytokines
- To read more about “Adult-onset Still disease”
- Expert Opin Orphan Drugs. 2019 Dec 23;7(12): 547-554
Granulomatosis with polyangiitis : a review of pharmacological therapy in a rare disease and challenges in the long-term management
- To read more about “Granulomatosis with polyangiitis”
- Expert Opin Orphan Drugs. 2019 Dec 23;7(12): 521-523
Genetic skeletal disorders : a review of the evolving therapeutic landscape
- Orphanet J Rare Dis. 2019 Dec 30;14(1):300
Congenital cytomegalovirus infection : a review of epidemiology, prediction, diagnosis, and emerging treatment options for symptomatic infants
- To read more about “Fetal cytomegalovirus syndrome”
- Orphanet J Rare Dis. 2019 Dec 30;14(1):300
American trypanosomiasis : the senseless orphanage of Chagas disease
- To read more about “American trypanosomiasis”
- Expert Opin Orphan Drugs. 2019 Dec 22;7(12): 535-545
How I treat newly diagnosed T-cell acute lymphoblastic leukemia and T-cell lymphoblastic lymphoma in children
- To read more about “Precursor T-cell acute lymphoblastic leukemia”
- Blood. 2020 Jan 16;135(3):159-166
Primary hepatic neuroendocrine carcinoma : a review of current evidence
- To read more about “Primary hepatic neuroendocrine carcinoma”
- Blood. 2020 Jan 16;135(3):159-166
Hereditary hemorrhagic telangiectasia : an international survey of hereditary hemorrhagic telangiectasia centers about bevacizumab for high-output cardiac failure
- To read more about “Hereditary hemorrhagic telangiectasia”
- Orphanet J Rare Dis. 2019 Nov 14;14(1):256
Recommendations
ERNICA consensus conference on the management of patients with esophageal atresia and tracheoesophageal fistula : diagnostics, preoperative, operative, and postoperative management
- To read more about “Esophageal atresia”
- To read more about “Isolated tracheoesophageal fistula”
- Eur J Pediatr Surg. 2019 Jul 2
ERNICA consensus conference on the management of patients with esophageal atresia and tracheoesophageal fistula : follow-up and framework
- To read more about “Esophageal atresia”
- To read more about “Isolated tracheoesophageal fistula”
- Eur J Pediatr Surg. 2019 Nov 27
Epidemiology
Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases
- To read more about “Inherited retinal disorder”
- Proc Natl Acad Sci U S A. 2020 Feb 4;117(5):2710-2716
Estimated birth prevalence of mucopolysaccharidoses in Brazil
- To read more about “Mucopolysaccharidosis”
- Am J Med Genet A. 2020 Mar;182(3):469-483
Epidemiology and implications of concurrent diagnosis of eosinophilic oesophagitis and IBD based on a prospective population-based analysis
- To read more about “Eosinophilic esophagitis”
- Gut. 2019 Dec;68(12):2152-2160
Using referral rates for genetic testing to determine the incidence of a rare disease : The minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389
- To read more about “Congenital isolated hyperinsulinism”
- PLoS One. 2020 Feb 6;15(2):e0228417. doi: 10.1371/journal.pone.0228417. eCollection 2020.