Rare Research Report

Rare Research Report

Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month. Learn more about the RDCRN: https://www.rarediseasesnetwork.org

Episodes

March 22, 2023 1 min
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the Journal of Clinical Endocrinology & Metabolism on January 20, 2023, titled "Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta."

Read the paper here: https://academic.oup.com/jcem/advance-article-abstract/doi/10.1210/clinem/dgad035/6993462?redirected...
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New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Annals of the American Thoracic Society in January 2023 titled "HYDIN Variants Are a Common Cause of Primary Ciliary Dyskinesia in French Canadians."

Read the paper here: https://www.atsjournals.org/doi/10.1513/AnnalsATS.202203-253RL

Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.o...
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New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Brain on January 30, 2023, titled "SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia."

Read the paper here: https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awac460/7010590?login=false

Learn more about GLIA-CTN: https://thegli...
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New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Biomolecules on December 31, 2022, titled "Assessment of Fibrinogen-like 2 (FGL2) in Human Chronic Kidney Disease through Transcriptomics Data Analysis."

Read the paper here: https://www.mdpi.com/2218-273X/13/1/89

Learn more about NEPTUNE: https://www.neptune-study.org
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New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Pediatric Neurology on November 25, 2022, titled "Deep Venous Remodeling in Unilateral Sturge-Weber Syndrome: Robust Hemispheric Differences and Clinical Correlates."

Read the paper here: https://www.pedneur.com/article/S0887-8994(22)00243-0/fulltext

Learn more about NEPTUNE: https://www.neptune-study.org
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New research from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. This summary is based on a paper published in the International Journal of Molecular Sciences on November 3, 2022, titled "Serum Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Biomarkers in Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia Type 4."

Read the paper here: https:...
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New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the Journal of Neurodevelopmental Disorders on January 14, 2023, titled "Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change."

Read the paper here: https://jneurodevdisorders.biomedcentral.com/articles/10.1186/s1...
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New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Annals of the American Thoracic Society in January 2023 titled "Airway Inflammation in Children with Primary Ciliary Dyskinesia."

Read the paper here: https://www.atsjournals.org/doi/10.1513/AnnalsATS.202204-314OC

Learn more about GDMCC: https://www1.rarediseasesnetwork.org/cms/gdmcc
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New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the New England Journal of Medicine on December 22, 2022, titled "Lentiviral Gene Therapy for Artemis-Deficient SCID."

Read the paper here: https://www.nejm.org/doi/10.1056/NEJMoa2206575

Learn more about PIDTC: https://pidtc.rarediseasesnetwork.org
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New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the American Journal of Gastroenterology on December 1, 2022, titled "Provider Beliefs, Practices, and Perceived Barriers to Dietary Elimination Therapy in Eosinophilic Esophagitis."

Read the paper here: https://journals.lww.com/ajg/Abstract/2022/12000/Provider_Beliefs,_Practices,_and_Perceive...
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New research from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. This summary is based on a paper published in the journal Brain on October 31, 2022, titled "Neurofilament light chain in drug development for amyotrophic lateral sclerosis: a critical appraisal."

Read the paper here: https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awac394/6780887?login=false

Learn m...
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New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the Journal of the American Society of Nephrology in December 2022 titled "Activation of Stimulator of IFN Genes (STING) Causes Proteinuria and Contributes to Glomerular Diseases."

Read the paper here: https://journals.lww.com/jasn/Abstract/2022/12000/Activation_of_Stimulator_of_IFN_Genes__STING_.7.aspx

Learn more about NE...
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New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology on November 28, 2022, titled "The diagnosis of severe combined immunodeficiency (SCID): The Primary Immune Deficiency Treatment Consortium (PIDTC) 2022 Definitions."

Read the paper here: https://www.jacionline.org/article/S0091-6749(22)01479-8/fulltext

Learn more a...
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New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the Journal of Allergy and Clinical Immunology on November 28, 2022, titled "The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions."

Read the paper here: https://www.jacionline.org/article/S0091-6749(22)01478-6/fulltext

Learn more about PIDTC: https://pidtc.rarediseases...
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New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Acta Neuropathologica Communications on October 28, 2022, titled "Reemergence of pathogenic, autoantibody-producing B cell clones in myasthenia gravis following B cell depletion therapy."

Read the paper here: https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-022-01454-0

Learn more about MGNet...
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New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal of Medical Genetics on November 10, 2022, titled "Homozygous truncating variant in MAN2A2 causes a novel congenital disorder of glycosylation with neurological involvement."

Read the paper here: https://jmg.bmj.com/content/early/2022/11/10/jmg-2022-108821

Learn more about FCDGC: https...
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New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the American Journal of Medical Genetics on October 22, 2022, titled "A multicenter study to evaluate pain characteristics in osteogenesis imperfecta."

Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.63009

Learn more about BBDC: https://www1.rarediseasesnetwork.org/cms/bbd
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New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Molecular Genetics and Metabolism on July 6, 2022, titled "Mitochondrial DNA maintenance defects: potential therapeutic strategies."

Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719222003638?via%3Dihub

Learn more about NAMDC: https://www1.rarediseasesnetwork.org/c...
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New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Annals of the American Thoracic Society in November 2022 titled "Association of Neonatal Hospital Length of Stay with Lung Function in Primary Ciliary Dyskinesia."

Read the paper here: https://www.atsjournals.org/doi/abs/10.1513/AnnalsATS.202202-116OC?role=tab

Learn more about GDMCC: https://...
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New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Muscle & Nerve on November 2, 2022, titled "The best and worst of times in therapy development for myasthenia gravis."

Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/mus.27742

Learn more about MGNet: https://mgnet.rarediseasesnetwork.org
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