Rare Research Report
Episodes
FCDGC: Expansion of Molecular and Phenotypic Features of ALG8-CDG Suggests Improvements for Clinical Management
15 Aug 2022
Contributed by Lukas
New research from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC). This summary is based on a paper published in the Journal...
GLIA-CTN: Identifying Patterns of Hematologic Abnormalities in Aicardi Goutières Syndrome
15 Aug 2022
Contributed by Lukas
New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal M...
LDN: New Method Reveals Insights on Podocyte GL3 Accumulation in Female Patients with Fabry Disease
15 Aug 2022
Contributed by Lukas
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Kidney International on April 25, 202...
MGNet: New Assay Evaluates Acetylcholine Receptor Autoantibody–Mediated Complement Activity in Myasthenia Gravis
15 Aug 2022
Contributed by Lukas
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Neuroimmunology & Neur...
NAMDC: North American Mitochondrial Disease Consortium Updates Clinical Criteria for Primary Mitochondrial Syndromes
15 Aug 2022
Contributed by Lukas
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Molecular Gen...
NAMDC: RRM1 Variants and Impaired De Novo Nucleotide Synthesis Identified as Causes of Mitochondrial DNA Depletion Syndromes
15 Aug 2022
Contributed by Lukas
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the Journal of Clinical I...
NEPTUNE: Kidney Biopsy Features Help Predict Clinical Outcomes in Minimal Change Disease and Focal Segmental Glomerulosclerosis
15 Aug 2022
Contributed by Lukas
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...