Rare Research Report
Episodes
UCDC: Comparing the Effects of Liver Transplantation and Medical Management on Health-Related Outcomes in Patients with Urea Cycle Disorders
24 Apr 2024
Contributed by Lukas
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Genetics in Medicine on Decemb...
UCDC: Investigating the Impact of Long-Term Supplementation After Liver Transplantation in Patients with Urea Cycle Disorders
24 Apr 2024
Contributed by Lukas
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Molecular Genetics and Metabol...
BBDC: Examining Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta
22 Mar 2024
Contributed by Lukas
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the Journal of Clinical Psychology in Me...
CEGIR: Investigating the Progression of Eosinophilic Esophagitis Variants Over Time
22 Mar 2024
Contributed by Lukas
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journ...
CReATe: Temporal Course of Cognitive and Behavioral Changes in Motor Neuron Diseases
22 Mar 2024
Contributed by Lukas
New research from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. This summary is based on a paper...
DC: Conducting an Exploratory, Randomized, Double-Blind Clinical Trial of Dipraglurant for Blepharospasm
22 Mar 2024
Contributed by Lukas
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Movement Disorders on February 3, 2024, titl...
LDN: Assessing Auditory Sensory Memory Capabilities in CLN3 Disease as a Biomarker for Neurocognitive Decline
22 Mar 2024
Contributed by Lukas
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the Journal of Neurodevelopmental Disorders on J...
MGNet: Providing a Comprehensive Overview of Molecular Therapies for Myasthenia Gravis
22 Mar 2024
Contributed by Lukas
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Nature Reviews Neurolo...
NEPTUNE: Describing the Design and Implementation of the NEPTUNE Match Study
22 Mar 2024
Contributed by Lukas
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Kidney International in F...
NEPTUNE: Providing a Snapshot of Pediatric Patients and Lessons Learned from the NEPTUNE Cohort Study
23 Feb 2024
Contributed by Lukas
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Pediatric Nephrology on Ja...
PHEFREE: Discussing State-of-the-Art Gene Therapy Approaches for Phenylketonuria
23 Feb 2024
Contributed by Lukas
New research from the Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium. This summary is based on a paper published in th...
PIDTC: Investigating Outcomes of Allogeneic Hematopoietic Cell Transplantation in Chronic Granulomatous Disease
23 Feb 2024
Contributed by Lukas
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the journal Blood on Decem...
CEGIR: Discussing Breakthrough Discoveries in Eosinophilic Gastrointestinal Disorders
16 Jan 2024
Contributed by Lukas
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in The Journ...
NEPTUNE: Investigating the Role of the APOL1 p.N264K Variant in G2-Associated Focal Segmental Glomerulosclerosis and Chronic Kidney Disease
16 Jan 2024
Contributed by Lukas
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Nature Communications on N...
CEGIR: Investigating the Effects of Eosinophilic Esophagitis on Esophageal Tissue
19 Dec 2023
Contributed by Lukas
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journ...
DC: Using a Data-Driven Approach to Classify Isolated Non-Focal Dystonia
19 Dec 2023
Contributed by Lukas
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Dystonia on June 8, 2023, titled "Anatomical ...
GDMCC: Characterizing the Histopathology of Primary Ciliary Dyskinesia-Related Chronic Rhinosinusitis
19 Dec 2023
Contributed by Lukas
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Interna...
GLIA-CTN: Investigating the Impact of Newborn Screening on Adrenal Insufficiency in Children with Adrenoleukodystrophy
19 Dec 2023
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 o...
DC: Comparing Clinician- and Patient-Rated Measures to Assess the Severity of Cervical Dystonia
14 Nov 2023
Contributed by Lukas
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Movement Disorders Clinical Practice on June ...
DC: Identifying Longitudinal Predictors of Health-Related Quality of Life in Patients with Isolated Dystonia
14 Nov 2023
Contributed by Lukas
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the Journal of Neurology on October 15, 2023, titled "Lon...
DSC: Developing a Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist
14 Nov 2023
Contributed by Lukas
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Pediatric Neurology on ...
FCDGC: Discussing Transcriptomics and Machine Learning Strategies to Reveal Splicing Defects in Rare Diseases
14 Nov 2023
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: Exploring Craniofacial Features of POLR3-Related Leukodystrophy
14 Nov 2023
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 o...
INC: Demonstrating the Role of microRNA Regulation in Charcot-Marie-Tooth Disease Type 1A
14 Nov 2023
Contributed by Lukas
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Brain on June 20, 2023, titled ...
INC: Expanding the Phenotype of CRYAB-Related Disease to Include Charcot–Marie–Tooth Disease Type 2
14 Nov 2023
Contributed by Lukas
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the European Journal of Neurology on Septem...
MGNet: Assessing High-Dose Chemotherapy and Hematopoietic Cell Transplantation in Severe Myasthenia Gravis
14 Nov 2023
Contributed by Lukas
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Annals of Clinical and...
MGNet: Defining a Treatment-Responsive Biomarker for Corticosteroid Therapy in Myasthenia Gravis
14 Nov 2023
Contributed by Lukas
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal PLOS One on October 10...
MGNet: Developing a New Telehealth Platform to Test Ocular Symptoms in Patients with Myasthenia Gravis
14 Nov 2023
Contributed by Lukas
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Sensors on September 7...
NEPTUNE: Investigating the Association Between Hematuria and Kidney-Related Outcomes in Podocytopathies
14 Nov 2023
Contributed by Lukas
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the Clinical Journal of the American S...
UCDC: Assessing Health-Related Quality of Life in Children and Adults with Urea Cycle Disorders
14 Nov 2023
Contributed by Lukas
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Molecular Genetics and Metabol...
BBDC: Exploring Patient Perspectives on Psychosocial Burdens and Positive Factors in Adults with Osteogenesis Imperfecta
17 Oct 2023
Contributed by Lukas
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the American Journal of Medical Genetics...
FCDGC: Evaluating Mitochondrial Function and Autophagy in PMM2-Congenital Disorder of Glycosylation
17 Oct 2023
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...
FCDGC: Studying Variants of CAD Deficiency to Improve Diagnosis
17 Oct 2023
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...
GDMCC: Updating Diagnostic Criteria and Considerations for Primary Ciliary Dyskinesia
17 Oct 2023
Contributed by Lukas
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Interna...
INC: Evaluating the Impact of Body Mass Index on Disease Progression in Children with Charcot-Marie-Tooth Disease
17 Oct 2023
Contributed by Lukas
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Neurology on June 28, 2023, tit...
INC: Exploring the Natural History of Charcot-Marie-Tooth Disease Type 4C
17 Oct 2023
Contributed by Lukas
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Brain on March 22, 2023, titled...
CReATe: Developing and Evaluating a Novel Outcome Measure for Amyotrophic Lateral Sclerosis
19 Sep 2023
Contributed by Lukas
New research from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. This summary is based on a paper...
CEGIR: Enhancing Diversity, Equity, Inclusivity, and Accessibility in Eosinophilic Gastrointestinal Disease Research
19 Sep 2023
Contributed by Lukas
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journ...
GLIA-CTN: Exploring Gross Motor Function in Aicardi-Goutières Syndrome
19 Sep 2023
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 o...
NEPTUNE: Creating a Comprehensive Atlas of Human Kidney Cells to Accelerate Kidney Disease Research
19 Sep 2023
Contributed by Lukas
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Nature on July 19, 2023, t...
NEPTUNE: Creating an Integrated Organoid Omics Map to Capture the Complexity of Kidney Disease
19 Sep 2023
Contributed by Lukas
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Nature Communications on A...
NAMDC: Developing a Single-Cell Multi-Omics Approach to Investigate Genetic Properties of Mitochondrial Diseases
19 Sep 2023
Contributed by Lukas
New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Nature Geneti...
PC: Establishing Evidence-based Guidelines for Diagnosis and Management of Liver Disease in Protoporphyrias
19 Sep 2023
Contributed by Lukas
New research from the Porphyrias Consortium (PC). This summary is based on a paper published in the journal Hepatology on July 27, 2023, titled "Evide...
DSC: Updating Guidelines for Clinical Management of Phelan–McDermid Syndrome
14 Aug 2023
Contributed by Lukas
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the American Journal of Medical Gen...
GLIA-CTN: Investigating Neurodegenerative Disease After Hematopoietic Stem Cell Transplantation in Metachromatic Leukodystrophy
14 Aug 2023
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 A...
LDN: Evaluating Bone and Joint Disease in Children with Mucopolysaccharidosis
14 Aug 2023
Contributed by Lukas
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on Mar...
MGNet: Developing a New Telehealth System to Compute Myasthenia Gravis Core Examination Metrics
14 Aug 2023
Contributed by Lukas
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal JMIR Neurotechnology o...
MGNet: Investigating the Ability of Individual Autoantibody Clones to Drive Multiple Pathogenic Mechanisms of Myasthenia Gravis
14 Aug 2023
Contributed by Lukas
New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Acta Neuropathologica ...
PIDTC: Exploring Factors Affecting Survival of Individuals with Severe Combined Immunodeficiency
14 Aug 2023
Contributed by Lukas
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in The Lancet on June 20, 202...
BBDC: Exploring Pharmacological Therapies for Fracture Risk Reduction in Adults with Osteogenesis Imperfecta
22 Mar 2023
Contributed by Lukas
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the Journal of Clinical Endocrinology &a...
GDMCC: Exploring the Role of HYDIN Variants in Primary Ciliary Dyskinesia
22 Mar 2023
Contributed by Lukas
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Annals ...
GLIA-CTN: Investigating the Effects of SPTSSA Variants on Sphingolipid Synthesis and Hereditary Spastic Paraplegia
22 Mar 2023
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 B...
NEPTUNE: Investigating the Association of Fibrinogen-like 2 with Kidney Function and Outcomes in Patients with Chronic Kidney Disease
22 Mar 2023
Contributed by Lukas
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Biomolecules on December 3...
BVMC: Evaluating Enlarged Deep Medullary Veins in Patients with Sturge-Weber Syndrome
22 Feb 2023
Contributed by Lukas
New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Pediatric Neurology on ...
CReATe: Investigating Biomarkers for Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia
22 Feb 2023
Contributed by Lukas
New research from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. This summary is based on a paper...
DSC: Characterizing Longitudinal Neurobehavioral Profiles in Individuals with PTEN Hamartoma Tumor Syndrome
22 Feb 2023
Contributed by Lukas
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the Journal of Neurodevelopmental D...
GDMCC: Investigating the Role of Airway Inflammation in Children with Primary Ciliary Dyskinesia
22 Feb 2023
Contributed by Lukas
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Annals ...
PIDTC: Evaluating the Effects of Lentiviral Gene Therapy for Artemis-deficient Severe Combined Immunodeficiency
22 Feb 2023
Contributed by Lukas
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the New England Journal of...
CEGIR: Survey Reveals Providers’ Perceptions of Dietary Therapy for Eosinophilic Esophagitis
20 Jan 2023
Contributed by Lukas
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the Ameri...
CReATe: Investigating Neurofilament Light Chain as a Biomarker for Amyotrophic Lateral Sclerosis
20 Jan 2023
Contributed by Lukas
New research from the Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium. This summary is based on a paper...
NEPTUNE: Activation of Stimulator of IFN Genes (STING) Pathway Mediates Disease Progression in Glomerular Diseases
20 Jan 2023
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...
PIDTC: Incorporating Contemporary Approaches to Update Definitions for the Diagnosis of Severe Combined Immunodeficiency
20 Jan 2023
Contributed by Lukas
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the Journal of Allergy and...
PIDTC: Testing Updated Definitions for the Diagnosis of Severe Combined Immunodeficiency
20 Jan 2023
Contributed by Lukas
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the Journal of Allergy and...
MGNet: Critical Needs for Therapy Development in Myasthenia Gravis
05 Dec 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 Muscle & Nerve on Nove...
BBDC: Evaluating Pain Characteristics in Patients with Osteogenesis Imperfecta
05 Dec 2022
Contributed by Lukas
New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the American Journal of Medical Genetics...
FCDGC: MAN2A2 Enzyme Variant Causes New Type of Congenital Disorder of Glycosylation
05 Dec 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...
GDMCC: Exploring the Association Between Neonatal Hospital Length of Stay and Lung Function in Patients with Primary Ciliary Dyskinesia
05 Dec 2022
Contributed by Lukas
New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Annals ...
MGNet: Exploring Factors Leading to Relapse After B Cell Depletion Therapy in Patients with Myasthenia Gravis
05 Dec 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 Acta Neuropathologica ...
NAMDC: Review Paper Highlights Potential Therapeutic Strategies for Mitochondrial DNA Maintenance Defects
05 Dec 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...
NEPTUNE: Investigating Factors Leading to APOL1-associated Kidney Disease
05 Dec 2022
Contributed by Lukas
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Proceedings of the Nationa...
UCDC: Use of Functional Near-infrared Spectroscopy in Urea Cycle Disorders and Phenylketonuria
05 Dec 2022
Contributed by Lukas
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Genes on September 21, 2022, t...
DSC: Exploring the Safety and Efficacy of Everolimus in PTEN Hamartoma Tumor Syndrome
07 Nov 2022
Contributed by Lukas
New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Human Molecular Genetic...
FCDGC: Exploring the Role of NGLY1 Deficiency in Patients with NGLY1-Congenital Disorder of Deglycosylation
07 Nov 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...
FCDGC: Report on New Patient with DDOST-Congenital Disorder of Glycosylation Reveals New Insights for Diagnosis and Management
07 Nov 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...
INC: Describing Autonomic Characteristics in RFC1-related Disease with Parkinsonism
07 Nov 2022
Contributed by Lukas
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the Journal of the Peripheral Nervous Syste...
INC: First Analysis of Neuromyotonia and Axonal Neuropathy in Lithuania Leads to Implications for Treatment Strategies
07 Nov 2022
Contributed by Lukas
New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the Orphanet Journal of Rare Diseases on Oc...
PC: Experts Develop New Guidelines for Diagnosis, Monitoring, and Management of Erythropoietic Protoporphyria and X-linked Protoporphyria
07 Nov 2022
Contributed by Lukas
New research from the Porphyrias Consortium (PC). This summary is based on a paper published in the Journal of the American Academy of Dermatology on ...
UCDC: Predicting Disease Severity in Males with Ornithine Transcarbamylase Deficiency
07 Nov 2022
Contributed by Lukas
New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Annals of Clinical and Transla...
FCDGC: Origin of Monosaccharide Determines Reactions in Glycosylation
06 Oct 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...
LDN: Exploring Variation in Oxidative Stress and Inflammation Biomarkers in Patients with Gaucher Disease
06 Oct 2022
Contributed by Lukas
New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the International Journal of Molecular Sciences o...
NEPTUNE: Endoplasmic Reticulum Plays Critical Role in Developing New Therapies for Acute Kidney Injury
06 Oct 2022
Contributed by Lukas
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Nephron on September 16, 2...
NEPTUNE: Exploring the Role of T-cell Receptor Diversity in Minimal Change Disease
06 Oct 2022
Contributed by Lukas
New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Pediatric Nephrology on Au...
PIDTC: Exploring the Role of Granulocyte Transfusions in Patients with Chronic Granulomatous Disease
06 Oct 2022
Contributed by Lukas
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the Journal of Clinical Im...
CEGIR: Characterizing Variants of Eosinophilic Esophagitis
07 Sep 2022
Contributed by Lukas
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the Europ...
CEGIR: Exploring Risk Factors for SARS-CoV-2 in Children with Asthma and Allergy
07 Sep 2022
Contributed by Lukas
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the Journ...
CEGIR: Updating Terminology for Eosinophilic Gastrointestinal Diseases
07 Sep 2022
Contributed by Lukas
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the Journ...
DC: Developing Specific Recommendations for Diagnosis and Classification of Blepharospasm
07 Sep 2022
Contributed by Lukas
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the Journal of the Neurological Sciences on August 15, 20...
DC: Exploring Phenotypic Diversity and Shared Mechanisms Across the Dystonias
07 Sep 2022
Contributed by Lukas
New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Current Opinion in Neurology on July 5, 2022,...
MGNet: Review Highlights Recent Insights on the Development of Autoimmune Myasthenia Gravis
07 Sep 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 Current Opinion in Neu...
NAMDC: Investigating the Impact of Disease-Causing Missense Mutations in Pyruvate Dehydrogenase Complex Deficiency
07 Sep 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 Chemical I...
PIDTC: Hematopoietic Stem Cell Transplantation Using Carrier Donors for CD40L Deficiency Results in Excellent Outcomes
07 Sep 2022
Contributed by Lukas
New research from the Primary Immune Deficiency Treatment Consortium (PIDTC). This summary is based on a paper published in the journal Blood Advances...
CEGIR: New Clinical Severity Index Helps Guide Management of Eosinophilic Esophagitis
15 Aug 2022
Contributed by Lukas
New research from the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). This summary is based on a paper published in the journ...
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...