Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25
- To read more about “Spinocerebellar ataxia type 25”
- Ann Neurol . 2022 Jul;92(1):122-137
New Genes
Missense mutation of MAL causes a rare leukodystrophy similar to Pelizaeus-Merzbacher disease
- To read more about “Pelizaeus-Merzbacher disease”
- Eur J Hum Genet . 2022 Jul;30(7):860-864
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
- To read more about “Rare non-syndromic intellectual disability”
- Am J Hum Genet . 2022 Jul 7;109(7):1217-1241
Clinical Research
Characteristics and natural history of early-stage cardiac transthyretin amyloidosis
- To read more about “Hereditary ATTR amyloidosis”
- Eur Heart J . 2022 Jul 14;43(27):2622-2632
Lower levels of cyclosporine between days 0 and +21 may reduce later relapses without increasing graft-versus-host disease in children and adolescents with acute lymphoblastic leukemia who undergo myeloablative TBI-based allogeneic hematopoietic cell tran
- To read more about “Acute lymphoblastic leukemia”
Development and preliminary validation of the Sjögren's Tool for Assessing Response (STAR): A consensual composite score for assessing treatment effect in primary Sjögren's syndrome
- To read more about “Primary Sjögren syndrome”
- Ann Rheum Dis . 2022 Jul;81(7):979-989
Effectiveness of long-term prophylaxis using pdFVIII/VWF concentrate in patients with inherited von Willebrand disease
- To read more about “Von Willebrand disease”
- Eur J Haematol . 2022 Jul;109(1):109-117
Anifrolumab efficacy and safety by type I interferon gene signature and clinical subgroups in patients with SLE: post hoc analysis of pooled data from two phase III trials
- To read more about “Systemic lupus erythematosus”
- Ann Rheum Dis . 2022 Jul;81(7):951-961
Predictors of Unsuccessful Hydroxychloroquine Tapering and Discontinuation: Can We Personalize Decision‐Making in Systemic Lupus Erythematosus Treatment?
- To read more about “Systemic lupus erythematosus”
- Arthritis Care Res (Hoboken) . 2022 Jul;74(7):1070-1078
Long-term Efficacy and Safety of Rifampin in the Treatment of a Patient Carrying a CYP24A1 Loss-of-Function Variant
- To read more about “Autosomal recessive infantile hypercalcemia”
- J Clin Endocrinol Metab . 2022 Jul 14;107(8):e3159-e3166
Randomized Trial of Osilodrostat for the Treatment of Cushing Disease
- To read more about “Cushing disease”
- J Clin Endocrinol Metab . 2022 Jun 16;107(7):e2882-e2895
Bone deformities in patients with neurofibromatosis type 1: Single-center experience
- To read more about “Neurofibromatosis type 1”
- Arch Pediatr . 2022 Aug;29(6):434-438
Polatuzumab vedotin plus bendamustine and rituximab in patients with relapsed/refractory diffuse large B-cell lymphoma in the real world
- To read more about “Diffuse large B-cell lymphoma”
- Eur J Haematol . 2022 Aug;109(2):162-165
Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia
- To read more about “X-linked hypophosphatemia”
- J Clin Endocrinol Metab . 2022 Jul 14;107(8):e3241-e3253
Women With Turner Syndrome Are Both Estrogen and Androgen Deficient: The Impact of Hormone Replacement Therapy.
- To read more about “Turner syndrome”
- J Clin Endocrinol Metab . 2022 Jun 16;107(7):1983-1993
Therapeutic Approaches
Boosting the peripheral immune response in the skeletal muscles improved motor function in ALS transgenic mice
- To read more about “Amyotrophic lateral sclerosis”
- Mol Ther . 2022 Aug 3;30(8):2760-2784
β-Catenin Is a Novel Target in YES-associated Protein–Driven Cholangiocarcinoma
- To read more about “Cholangiocarcinoma”
- Gastroenterology . 2022 Aug;163(2):374-376
IL ‐2‐related regulatory CD4 T‐cell deficiency leads to the development of lung fibrosis and vascular remodeling
- To read more about “Systemic sclerosis”
- Arthritis Rheumatol . 2022 Aug;74(8):1387-1398
Transcription Factor ASCL1 Acts as a Novel Potential Therapeutic Target for the Treatment of the Cushing’s Disease
- To read more about “Cushing disease”
- J Clin Endocrinol Metab . 2022 Jul 14;107(8):2296-2306
Development of a double shmiR lentivirus effectively targeting both BCL11A and ZNF410 for enhanced induction of fetal hemoglobin to treat β-hemoglobinopathies
- To read more about “Beta-thalassemia and related diseases”
- Mol Ther . 2022 Aug 3;30(8):2693-2708
Diagnostic Approaches
Validation of the HScore and the HLH-2004 diagnostic criteria for the diagnosis of hemophagocytic lymphohistiocytosis in a multicenter cohort
- To read more about “Hemophagocytic syndrome”
- Eur J Haematol . 2022 Aug;109(2):129-137
Patient Management and Therapy
Potential disease-modifying therapies for Huntington's disease: lessons learned and future opportunities
- To read more about “Huntington disease”
- Lancet Neurol . 2022 Jul;21(7):645-658
Use of the von Willebrand factor concentrate with low factor VIII content to manage patients with inherited von Willebrand disease requiring surgical or secondary long‐term prophylaxis: An expert opinion paper from an Italian panel
- To read more about “Von Willebrand disease”
- Eur J Haematol . 2022 Aug;109(2):121-128
Gene–disease relationship evidence: A clinical perspective focusing on ultra-rare diseases
- Hum Mutat . 2022 Aug;43(8):1082-1088
Autoimmune hepatitis in pregnancy: Pearls and pitfalls
- To read more about “Autoimmune hepatitis”
- Hepatology . 2022 Aug;76(2):502-517
Recommendations
Von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance
- To read more about “Von Hippel-Lindau disease”
- Eur J Med Genet . 2022 Aug;65(8):104538
ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis
- To read more about “Schwannomatosis”
- Eur J Hum Genet . 2022 Jul;30(7):812-817
Epidemiology
Ethnicity, disease severity, and survival in Canadian patients with primary biliary cholangitis
- To read more about “Primary biliary cholangitis”
- Hepatology . 2022 Aug;76(2):303-316
Epidemiology, clinical features, and mortality rate of Wilson disease in Moroccan children: A pediatric case series
- To read more about “Wilson disease”
- Arch Pediatr . 2022 Aug;29(6):453-458
Quality of Life
Special Issue : Psychosocial Considerations for Children and Adolescents Living with a Rare Disease
- Children (Basel) . 2022 Jul 21;9(7):1099
Quality of life ( QoL ) for people with primary sclerosing cholangitis ( PSC ): a pragmatic strategy for identifying relevant QoL issues for rare disease
- To read more about “Primary sclerosing cholangitis”
- J Patient Rep Outcomes . 2022 Jul 15;6(1):76
Comprehensive Assessment of Quality of Life, Functioning, and Mental Health in Children With Juvenile Idiopathic Arthritis and Noninfectious Uveitis
- To read more about “Non-infectious anterior uveitis”
- To read more about “Non-infectious posterior uveitis”
- To read more about “Juvenile idiopathic arthritis”
- Arthritis Care Res (Hoboken) . 2022 Aug;74(8):1311-1320