Rare Research Report
By RDCRN
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Episodes: 207
Description
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
Learn more about the RDCRN: https://www.rarediseasesnetwork.org
| Episode | Date |
|---|---|
|
GLIA-CTN: Developing a New Patient-Centered Approach to Clinical Trial Readiness in Aicardi-Goutières Syndrome
|
May 14, 2026 |
|
SP-CERN: Characterizing Movement Disorders and Treatment Responses in Aicardi-Goutières Syndrome
|
May 14, 2026 |
|
UCDC: Investigating Self-Reported Health-Related Quality of Life in Adults with Urea Cycle Disorders
|
May 14, 2026 |
|
IMPACT: Advancing Treatment in Congenital Thrombotic Thrombocytopenic Purpura
|
Apr 28, 2026 |
|
MGNet: Investigating the Impact of Demographic Trends on Disease Prognosis in Myasthenia Gravis
|
Apr 28, 2026 |
|
NASCARR: Creating a Patient Registry to Improve Health Outcomes for Individuals with Sex Chromosome Aneuploidies
|
Apr 28, 2026 |
|
SP-CERN: Characterizing the Spectrum of ATP1A3-Related Disorders
|
Apr 28, 2026 |
|
UCDC: Exploring the Impact of Ornithine Transcarbamylase Gene Variants in Asymptomatic Individuals
|
Apr 28, 2026 |
|
GLIA-CTN: Investigating Language Skills in Children with Alexander Disease
|
Mar 27, 2026 |
|
SP-CERN: Evaluating the Use of Genome Sequencing in Diagnosing Children with Progressive Movement Disorders
|
Mar 27, 2026 |
|
GLIA-CTN: Exploring the Use of Glial Fibrillary Acidic Protein as a Biomarker in Alexander Disease
|
Feb 24, 2026 |
|
GLIA-CTN: Reviewing Pathology and Interventions in Cerebral X-Linked Adrenoleukodystrophy
|
Feb 24, 2026 |
|
NAMDC: Using a New Statistical Technique for Accelerometer Data to Assess a Treatment for Mitochondrial Disease
|
Feb 24, 2026 |
|
SP-CERN: Assessing Health-Related Quality of Life in Children with Rare Forms of Hereditary Spastic Paraplegia
|
Feb 24, 2026 |
|
SP-CERN: Investigating the ATG9A Ratio as a Diagnostic Tool for Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia
|
Feb 24, 2026 |
|
UCDC: Evaluating a New Food Photography App for Measuring Dietary Intake in Urea Cycle Disorders
|
Feb 24, 2026 |
|
BBDC: Assessing Temporomandibular Joints in Patients with Osteogenesis Imperfecta
|
Jan 28, 2026 |
|
SP-CERN: Evaluating Plasma Neurofilament Light Chain as a Biomarker for Hereditary Spastic Paraplegia-SPG11 and -ZFYVE26
|
Jan 28, 2026 |
|
SP-CERN: Exploring the Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia
|
Jan 28, 2026 |
|
CPIC: Exploring Prevention of Congenital Cytomegalovirus Infection
|
Dec 22, 2025 |
|
CEGIR: Exploring the Use of Artificial Intelligence Tools in the Detection and Management of Eosinophilic Gastrointestinal Disorders
|
Dec 22, 2025 |
|
DSC: Characterizing Key Factors that Correlate with Sleep Problems in Rare Neurodevelopmental Genetic Disorders
|
Dec 22, 2025 |
|
DSC: Developing a Fully Automated Algorithm for Tuber Segmentation and Quantification of Tuber Volume in Tuberous Sclerosis Complex
|
Dec 22, 2025 |
|
MGNet: Building a Quantitative Telemedicine Platform for Myasthenia Gravis
|
Dec 22, 2025 |
|
BVMC: Assessing Disparities in Access to Clinical Care and Research for Patients with Hereditary Hemorrhagic Telangiectasia
|
Nov 25, 2025 |
|
GLIA-CTN: Working with Caregivers to Capture Lived Experiences of Children with Multiple Sulfatase Deficiency
|
Nov 25, 2025 |
|
MGNet: Evaluating the Therapeutic Potential of Immunoglobin G- and Immunoglobin M-Specific Proteases in AChR-Positive Myasthenia Gravis
|
Nov 25, 2025 |
|
GLIA-CTN: Discovering a New Pathogenic Variant in Canavan Disease
|
Oct 28, 2025 |
|
MGNet: Comparing Differences in Proteins Among Patients with Early-Onset and Late-Onset Myasthenia Gravis
|
Oct 28, 2025 |
|
BVMC: Comparing Circulating microRNAs in Neurovascular Disorders
|
Sep 28, 2025 |
|
GLIA-CTN: Examining the Molecular Mechanisms of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
|
Sep 28, 2025 |
|
MGNet: Exploring the Effect of Atypical B Cells on Immune Response in Myasthenia Gravis
|
Sep 28, 2025 |
|
MGNet: Investigating Pathogenic Properties of Acetylcholine Receptor Autoantibodies in Myasthenia Gravis
|
Sep 28, 2025 |
|
BBDC: Exploring Caregiver Experiences, Social Support, and Impact on Family Life in Osteogenesis Imperfecta
|
Aug 26, 2025 |
|
FCDGC: Diagnosing a New Case of Mannosyl-Oligosaccharide Glucosidase-Congenital Disorder of Glycosylation
|
Aug 26, 2025 |
|
INC: Investigating the Correlation Between Disease Severity and Genetic Variants in Charcot-Marie-Tooth Disease Type 1E
|
Aug 26, 2025 |
|
LDN: Evaluating Health-Related Quality of Life and Family Function in CLN3 Disease
|
Aug 26, 2025 |
|
MGNet: Validating the Patient-Acceptable Symptom State (PASS) Question in Acetylcholine Receptor Myasthenia Gravis
|
Aug 26, 2025 |
|
DC: Exploring Genetic Diversity and Phenotypes in Dystonia
|
Jul 23, 2025 |
|
DSC: Exploring the Relationship Between Genomic Diversity and Neurodevelopmental Versus Cancer Risks in Individuals with PHTS
|
Jul 23, 2025 |
|
DSC: Using Genome Sequencing to Identify Additional Molecular Diagnoses in Phelan-McDermid Syndrome
|
Jul 23, 2025 |
|
FCDGC: Examining Metabolomic Changes in a Patient with PGM1-Congenital Disorder of Glycosylation and Leigh Syndrome
|
Jul 23, 2025 |
|
GLIA-CTN: Characterizing Diagnostic Delays in Metachromatic Leukodystrophy
|
Jul 23, 2025 |
|
MGNet: Developing an Artificial Intelligence-Based Assessment of Telehealth Examinations in Myasthenia Gravis
|
Jul 23, 2025 |
|
MGNet: Discussing the Impact of Rescue Therapy in Clinical Trials for Myasthenia Gravis
|
Jul 23, 2025 |
|
NEPTUNE: Exploring the Relationship Between Air Pollution and Primary Glomerular Diseases
|
Jul 23, 2025 |
|
CEGIR: Exploring the Underlying Causes of Symptom Severity in Eosinophilic Esophagitis
|
Jan 29, 2025 |
|
DSC: Evaluating Remote Monitoring of Social Attention in Neurodevelopmental Genetic Syndromes
|
Jan 29, 2025 |
|
INC: Investigating Patient Perspectives on Disease Burden Over Time in Charcot-Marie-Tooth Disease
|
Jan 29, 2025 |
|
MGNet: Comparing the Accuracy of Radioimmunoassay and Fixed Cell-Based Assay for Diagnosis of Myasthenia Gravis
|
Jan 29, 2025 |
|
NAMDC: Exploring the Clinical Utility of Growth Differentiation Factor 15 as a Biomarker for Primary Mitochondrial Disorders
|
Jan 29, 2025 |
|
BVMC: Determining Current Rescreening Practices for Brain and Lung Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia
|
Dec 18, 2024 |
|
CEGIR: Comparing Parent and Child Patient-Reported Outcomes in Eosinophilic Esophagitis Over Time
|
Dec 18, 2024 |
|
FCDGC: Evaluating the Use of RNA Sequencing to Clarify Variants of Uncertain Significance in a Clinical Setting
|
Dec 18, 2024 |
|
GLIA-CTN: Characterizing Family Perspectives to Define Health Concepts in β-Propeller Protein–Associated Neurodegeneration
|
Dec 18, 2024 |
|
MGNet: Proposing an Artificial Intelligence-Powered Telemedicine Tool for Automatic Scoring of Neuromuscular Exams in Myasthenia Gravis
|
Dec 18, 2024 |
|
PC: Developing a Wearable Light Dosimeter to Improve Quality of Life in Patients with Erythropoietic Protoporphyria
|
Dec 18, 2024 |
|
DSC: Assessing the Current State of Professional Society Guidelines for Genetic Testing of Neurodevelopmental Disorders
|
Nov 26, 2024 |
|
DSC: Evaluating the Prevalence and Risk of Aortic Root Dilation in Patients with Phelan-McDermid Syndrome
|
Nov 26, 2024 |
|
FCDGC: Evaluating the O-GlcNAc Transferase Interactome to Identify Mechanistic Targets for OGT-Congenital Disorder of Glycosylation
|
Nov 26, 2024 |
|
GDMCC: Identifying a Pathogenic Non-Coding Variant in a Genetically Unsolved Case of Primary Ciliary Dyskinesia
|
Nov 26, 2024 |
|
NAMDC: Identifying a New and Potentially Treatable Cause of Mitochondrial DNA Depletion/Deletions Syndrome
|
Nov 26, 2024 |
|
NAMDC: Using a Proteomics-Based Approach for Ultra-Rapid Diagnosis of Pyruvate Dehydrogenase Complex Deficiency
|
Nov 26, 2024 |
|
CEGIR: Exploring Clinical and Molecular Features Associated with the Index of Severity for Eosinophilic Esophagitis
|
Oct 24, 2024 |
|
GDMCC: Estimating the Global Prevalence of Primary Ciliary Dyskinesia
|
Oct 24, 2024 |
|
GLIA-CTN and LDN: Exploring the Relationship Between Early Development Delay and Neurologic Regression in Metachromatic Leukodystrophy
|
Oct 24, 2024 |
|
INC: Exploring the Long-Term Outcomes of High-Dose Oral Riboflavin in Children with Riboflavin Transporter Deficiency
|
Oct 24, 2024 |
|
INC: Investigating the Impact of Whole-Genome Sequencing on the Diagnostic Rate of Charcot-Marie-Tooth Disease
|
Oct 24, 2024 |
|
NEPTUNE: Exploring How Residential Air Pollution Affects Disease Progression in Patients with Primary Glomerular Diseases
|
Oct 24, 2024 |
|
PHEFREE: Sharing Patient Stories About the Early Years Following Newborn Screening for Phenylketonuria
|
Oct 24, 2024 |
|
UCDC: Investigating the Link Between Seizures and Hyperammonemic Crises in Individuals with Urea Cycle Disorders
|
Oct 24, 2024 |
|
BBDC: Exploring Bone Age Maturation During Adolescent Growth in Patients with Osteogenesis Imperfecta
|
Sep 25, 2024 |
|
DSC: Examining the Morphological Features of Cortical Language Regions in Individuals with Tuberous Sclerosis Complex
|
Sep 25, 2024 |
|
INC: Expanding the Phenotype of Peroxisome Biogenesis Disorders by Uncovering a New Genetic Variant
|
Sep 25, 2024 |
|
PHEFREE: Reporting Initial Data from a Natural History Study of Individuals with Phenylketonuria
|
Sep 25, 2024 |
|
FCDGC: Exploring the Natural History of Congenital Disorders of Glycosylation
|
Aug 30, 2024 |
|
GDMCC: Identifying a New Genetic Cause in Unsolved Cases of Bronchiectasis
|
Aug 30, 2024 |
|
GLIA-CTN: Describing Anesthetic Outcomes of Pediatric Patients with Alexander Disease
|
Aug 30, 2024 |
|
GLIA-CTN: Illustrating the Diagnostic Utility of Genome Sequencing in Pediatric Cases of Neurodevelopmental Disorders
|
Aug 30, 2024 |
|
INC: Analyzing Genetic Modifiers to Characterize Severity in Patients with Charcot-Marie-Tooth Disease Type 1A
|
Aug 30, 2024 |
|
INC: Describing a New Subtype of Distal Hereditary Motor Neuropathy Caused by RTN2 Deficiency
|
Aug 30, 2024 |
|
MGNet: Exploring the Frequency and Timing of Cancer in Patients with Muscle-Specific Kinase Myasthenia Gravis
|
Aug 30, 2024 |
|
MGNet: Investigating Autoreactivity to Enhance Evaluation of Therapies for Autoimmune Diseases
|
Aug 30, 2024 |
|
NEPTUNE: Using an Artificial Intelligence Tool to Improve Digital Pathology Labeling
|
Aug 30, 2024 |
|
BVMC: Measuring the Angiographic Compactness Score for Brain Arteriovenous Malformations in Children with Hereditary Hemorrhagic Telangiecta
|
Jul 26, 2024 |
|
DC: Exploring Factors and Mechanisms Underlying Differences Between Males and Females with Dystonia
|
Jul 26, 2024 |
|
DC: Using Proteomics Methods to Identify Changes in Blood Plasma Proteins in Patients with Adult-Onset Focal Dystonias
|
Jul 26, 2024 |
|
DSC: Examining the Function of the Blood-Brain Barrier in Tuberous Sclerosis Complex
|
Jul 26, 2024 |
|
GDMCC: Describing the Latest Advancements in Primary Ciliary Dyskinesia
|
Jul 26, 2024 |
|
GLIA-CTN: Assessing Balance and Gait in Adults with Adrenoleukodystrophy Using Wearable Sensors
|
Jul 26, 2024 |
|
BVMC: Investigating the Formation of New Brain Vascular Malformations in Patients with Hereditary Hemorrhagic Telangiectasia
|
Jun 26, 2024 |
|
GDMCC: Investigating Clinical Outcomes of Children with Primary Ciliary Dyskinesia and Situs Ambiguus
|
Jun 26, 2024 |
|
GLIA-CTN: Describing Patients with TBL1XR1-Related Disorder Using a Caregiver Survey
|
Jun 26, 2024 |
|
GLIA-CTN: Sharing a New Approach to Creating Longitudinal Natural History Studies for Rare Diseases
|
Jun 26, 2024 |
|
UCDC: Exploring Risk Factors in Asymptomatic Females with Ornithine Transcarbamylase Deficiency
|
Jun 26, 2024 |
|
BBDC: Discussing Genetic Testing for Monogenic Disorders of Osteoporosis
|
May 29, 2024 |
|
FCDGC: Investigating the Effects of Glycan Extension Deficiency in ALG3-CDG
|
May 29, 2024 |
|
GLIA-CTN: Exploring Potential Biomarkers for Alexander Disease
|
May 29, 2024 |
|
LDN: Exploring Management Approaches for High-Sustained Anti-rhGAA IgG Antibody Titers in Patients with Pompe Disease
|
May 29, 2024 |
|
NEPTUNE: Investigating the Association of Fibroblast Growth Factor 23 with Blood Pressure in Primary Proteinuric Glomerulopathies
|
May 29, 2024 |
|
PIDTC: Exploring the Impact of Various Methods for Measuring PHA-Based T Cell Growth in Patients with Severe Combined Immunodeficiency
|
May 29, 2024 |
|
BBDC: Summarizing Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta
|
Apr 24, 2024 |
|
BVMC: Developing a Quantitative Approach to Measure Deep Medullary Vein Volumes in Patients with Sturge-Weber Syndrome
|
Apr 24, 2024 |
|
FCDGC: Exploring Proteomics and N-Glycoproteomics in ALG1-Congenital Disorder of Glycosylation
|
Apr 24, 2024 |
|
FCDGC: Exploring the Neurological Characteristics of PMM2-Congenital Disorder of Glycosylation Using Human In Vitro Neural Models
|
Apr 24, 2024 |
|
INC: Reporting Cases of Intermediate Nerve Conduction Velocity in Patients with Charcot-Marie-Tooth Disease Type 1A
|
Apr 24, 2024 |
|
MGNet: Investigating the Characteristics of Natural Killer Cells in Patients with Autoantibody-Mediated Autoimmune Diseases
|
Apr 24, 2024 |
|
PIDTC: Investigating Outcomes of Allogeneic Hematopoietic Cell Transplantation in Patients with P47phox Chronic Granulomatous Disease
|
Apr 24, 2024 |
|
UCDC: Comparing the Effects of Liver Transplantation and Medical Management on Health-Related Outcomes in Patients with Urea Cycle Disorders
|
Apr 24, 2024 |
|
UCDC: Investigating the Impact of Long-Term Supplementation After Liver Transplantation in Patients with Urea Cycle Disorders
|
Apr 24, 2024 |
|
BBDC: Examining Psychosocial Outcomes of Pain and Pain Management in Adults with Osteogenesis Imperfecta
|
Mar 22, 2024 |
|
CEGIR: Investigating the Progression of Eosinophilic Esophagitis Variants Over Time
|
Mar 22, 2024 |
|
CReATe: Temporal Course of Cognitive and Behavioral Changes in Motor Neuron Diseases
|
Mar 22, 2024 |
|
DC: Conducting an Exploratory, Randomized, Double-Blind Clinical Trial of Dipraglurant for Blepharospasm
|
Mar 22, 2024 |
|
LDN: Assessing Auditory Sensory Memory Capabilities in CLN3 Disease as a Biomarker for Neurocognitive Decline
|
Mar 22, 2024 |
|
MGNet: Providing a Comprehensive Overview of Molecular Therapies for Myasthenia Gravis
|
Mar 22, 2024 |
|
NEPTUNE: Describing the Design and Implementation of the NEPTUNE Match Study
|
Mar 22, 2024 |
|
NEPTUNE: Providing a Snapshot of Pediatric Patients and Lessons Learned from the NEPTUNE Cohort Study
|
Feb 23, 2024 |
|
PHEFREE: Discussing State-of-the-Art Gene Therapy Approaches for Phenylketonuria
|
Feb 23, 2024 |
|
PIDTC: Investigating Outcomes of Allogeneic Hematopoietic Cell Transplantation in Chronic Granulomatous Disease
|
Feb 23, 2024 |
|
CEGIR: Discussing Breakthrough Discoveries in Eosinophilic Gastrointestinal Disorders
|
Jan 16, 2024 |
|
NEPTUNE: Investigating the Role of the APOL1 p.N264K Variant in G2-Associated Focal Segmental Glomerulosclerosis and Chronic Kidney Disease
|
Jan 16, 2024 |
|
CEGIR: Investigating the Effects of Eosinophilic Esophagitis on Esophageal Tissue
|
Dec 19, 2023 |
|
DC: Using a Data-Driven Approach to Classify Isolated Non-Focal Dystonia
|
Dec 19, 2023 |
|
GDMCC: Characterizing the Histopathology of Primary Ciliary Dyskinesia-Related Chronic Rhinosinusitis
|
Dec 19, 2023 |
|
GLIA-CTN: Investigating the Impact of Newborn Screening on Adrenal Insufficiency in Children with Adrenoleukodystrophy
|
Dec 19, 2023 |
|
DC: Comparing Clinician- and Patient-Rated Measures to Assess the Severity of Cervical Dystonia
|
Nov 14, 2023 |
|
DC: Identifying Longitudinal Predictors of Health-Related Quality of Life in Patients with Isolated Dystonia
|
Nov 14, 2023 |
|
DSC: Developing a Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist
|
Nov 14, 2023 |
|
FCDGC: Discussing Transcriptomics and Machine Learning Strategies to Reveal Splicing Defects in Rare Diseases
|
Nov 14, 2023 |
|
GLIA-CTN: Exploring Craniofacial Features of POLR3-Related Leukodystrophy
|
Nov 14, 2023 |
|
INC: Demonstrating the Role of microRNA Regulation in Charcot-Marie-Tooth Disease Type 1A
|
Nov 14, 2023 |
|
INC: Expanding the Phenotype of CRYAB-Related Disease to Include Charcot–Marie–Tooth Disease Type 2
|
Nov 14, 2023 |
|
MGNet: Assessing High-Dose Chemotherapy and Hematopoietic Cell Transplantation in Severe Myasthenia Gravis
|
Nov 14, 2023 |
|
MGNet: Defining a Treatment-Responsive Biomarker for Corticosteroid Therapy in Myasthenia Gravis
|
Nov 14, 2023 |
|
MGNet: Developing a New Telehealth Platform to Test Ocular Symptoms in Patients with Myasthenia Gravis
|
Nov 14, 2023 |
|
NEPTUNE: Investigating the Association Between Hematuria and Kidney-Related Outcomes in Podocytopathies
|
Nov 14, 2023 |
|
UCDC: Assessing Health-Related Quality of Life in Children and Adults with Urea Cycle Disorders
|
Nov 14, 2023 |
|
BBDC: Exploring Patient Perspectives on Psychosocial Burdens and Positive Factors in Adults with Osteogenesis Imperfecta
|
Oct 17, 2023 |
|
FCDGC: Evaluating Mitochondrial Function and Autophagy in PMM2-Congenital Disorder of Glycosylation
|
Oct 17, 2023 |
|
FCDGC: Studying Variants of CAD Deficiency to Improve Diagnosis
|
Oct 17, 2023 |
|
GDMCC: Updating Diagnostic Criteria and Considerations for Primary Ciliary Dyskinesia
|
Oct 17, 2023 |
|
INC: Evaluating the Impact of Body Mass Index on Disease Progression in Children with Charcot-Marie-Tooth Disease
|
Oct 17, 2023 |
|
INC: Exploring the Natural History of Charcot-Marie-Tooth Disease Type 4C
|
Oct 17, 2023 |
|
CReATe: Developing and Evaluating a Novel Outcome Measure for Amyotrophic Lateral Sclerosis
|
Sep 19, 2023 |
|
CEGIR: Enhancing Diversity, Equity, Inclusivity, and Accessibility in Eosinophilic Gastrointestinal Disease Research
|
Sep 19, 2023 |
|
GLIA-CTN: Exploring Gross Motor Function in Aicardi-Goutières Syndrome
|
Sep 19, 2023 |
|
NEPTUNE: Creating a Comprehensive Atlas of Human Kidney Cells to Accelerate Kidney Disease Research
|
Sep 19, 2023 |
|
NEPTUNE: Creating an Integrated Organoid Omics Map to Capture the Complexity of Kidney Disease
|
Sep 19, 2023 |
|
NAMDC: Developing a Single-Cell Multi-Omics Approach to Investigate Genetic Properties of Mitochondrial Diseases
|
Sep 19, 2023 |
|
PC: Establishing Evidence-based Guidelines for Diagnosis and Management of Liver Disease in Protoporphyrias
|
Sep 19, 2023 |
|
DSC: Updating Guidelines for Clinical Management of Phelan–McDermid Syndrome
|
Aug 14, 2023 |
|
GLIA-CTN: Investigating Neurodegenerative Disease After Hematopoietic Stem Cell Transplantation in Metachromatic Leukodystrophy
|
Aug 14, 2023 |
|
LDN: Evaluating Bone and Joint Disease in Children with Mucopolysaccharidosis
|
Aug 14, 2023 |
|
MGNet: Developing a New Telehealth System to Compute Myasthenia Gravis Core Examination Metrics
|
Aug 14, 2023 |
|
MGNet: Investigating the Ability of Individual Autoantibody Clones to Drive Multiple Pathogenic Mechanisms of Myasthenia Gravis
|
Aug 14, 2023 |
|
PIDTC: Exploring Factors Affecting Survival of Individuals with Severe Combined Immunodeficiency
|
Aug 14, 2023 |
|
BBDC: Exploring Pharmacological Therapies for Fracture Risk Reduction in Adults with Osteogenesis Imperfecta
|
Mar 22, 2023 |
|
GDMCC: Exploring the Role of HYDIN Variants in Primary Ciliary Dyskinesia
|
Mar 22, 2023 |
|
GLIA-CTN: Investigating the Effects of SPTSSA Variants on Sphingolipid Synthesis and Hereditary Spastic Paraplegia
|
Mar 22, 2023 |
|
NEPTUNE: Investigating the Association of Fibrinogen-like 2 with Kidney Function and Outcomes in Patients with Chronic Kidney Disease
|
Mar 22, 2023 |
|
BVMC: Evaluating Enlarged Deep Medullary Veins in Patients with Sturge-Weber Syndrome
|
Feb 22, 2023 |
|
CReATe: Investigating Biomarkers for Primary Progressive Multiple Sclerosis and Hereditary Spastic Paraplegia
|
Feb 22, 2023 |
|
DSC: Characterizing Longitudinal Neurobehavioral Profiles in Individuals with PTEN Hamartoma Tumor Syndrome
|
Feb 22, 2023 |
|
GDMCC: Investigating the Role of Airway Inflammation in Children with Primary Ciliary Dyskinesia
|
Feb 22, 2023 |
|
PIDTC: Evaluating the Effects of Lentiviral Gene Therapy for Artemis-deficient Severe Combined Immunodeficiency
|
Feb 22, 2023 |
|
CEGIR: Survey Reveals Providers’ Perceptions of Dietary Therapy for Eosinophilic Esophagitis
|
Jan 20, 2023 |
|
CReATe: Investigating Neurofilament Light Chain as a Biomarker for Amyotrophic Lateral Sclerosis
|
Jan 20, 2023 |
|
NEPTUNE: Activation of Stimulator of IFN Genes (STING) Pathway Mediates Disease Progression in Glomerular Diseases
|
Jan 20, 2023 |
|
PIDTC: Incorporating Contemporary Approaches to Update Definitions for the Diagnosis of Severe Combined Immunodeficiency
|
Jan 20, 2023 |
|
PIDTC: Testing Updated Definitions for the Diagnosis of Severe Combined Immunodeficiency
|
Jan 20, 2023 |
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NAMDC: Review Paper Highlights Potential Therapeutic Strategies for Mitochondrial DNA Maintenance Defects
|
Dec 05, 2022 |
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MGNet: Exploring Factors Leading to Relapse After B Cell Depletion Therapy in Patients with Myasthenia Gravis
|
Dec 05, 2022 |
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MGNet: Critical Needs for Therapy Development in Myasthenia Gravis
|
Dec 05, 2022 |
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GDMCC: Exploring the Association Between Neonatal Hospital Length of Stay and Lung Function in Patients with Primary Ciliary Dyskinesia
|
Dec 05, 2022 |
|
FCDGC: MAN2A2 Enzyme Variant Causes New Type of Congenital Disorder of Glycosylation
|
Dec 05, 2022 |
|
BBDC: Evaluating Pain Characteristics in Patients with Osteogenesis Imperfecta
|
Dec 05, 2022 |
|
NEPTUNE: Investigating Factors Leading to APOL1-associated Kidney Disease
|
Dec 05, 2022 |
|
UCDC: Use of Functional Near-infrared Spectroscopy in Urea Cycle Disorders and Phenylketonuria
|
Dec 05, 2022 |
|
DSC: Exploring the Safety and Efficacy of Everolimus in PTEN Hamartoma Tumor Syndrome
|
Nov 07, 2022 |
|
FCDGC: Exploring the Role of NGLY1 Deficiency in Patients with NGLY1-Congenital Disorder of Deglycosylation
|
Nov 07, 2022 |
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FCDGC: Report on New Patient with DDOST-Congenital Disorder of Glycosylation Reveals New Insights for Diagnosis and Management
|
Nov 07, 2022 |
|
INC: Describing Autonomic Characteristics in RFC1-related Disease with Parkinsonism
|
Nov 07, 2022 |
|
INC: First Analysis of Neuromyotonia and Axonal Neuropathy in Lithuania Leads to Implications for Treatment Strategies
|
Nov 07, 2022 |
|
PC: Experts Develop New Guidelines for Diagnosis, Monitoring, and Management of Erythropoietic Protoporphyria and X-linked Protoporphyria
|
Nov 07, 2022 |
|
UCDC: Predicting Disease Severity in Males with Ornithine Transcarbamylase Deficiency
|
Nov 07, 2022 |
|
FCDGC: Origin of Monosaccharide Determines Reactions in Glycosylation
|
Oct 06, 2022 |
|
LDN: Exploring Variation in Oxidative Stress and Inflammation Biomarkers in Patients with Gaucher Disease
|
Oct 06, 2022 |
|
NEPTUNE: Endoplasmic Reticulum Plays Critical Role in Developing New Therapies for Acute Kidney Injury
|
Oct 06, 2022 |
|
NEPTUNE: Exploring the Role of T-cell Receptor Diversity in Minimal Change Disease
|
Oct 06, 2022 |
|
PIDTC: Exploring the Role of Granulocyte Transfusions in Patients with Chronic Granulomatous Disease
|
Oct 06, 2022 |
|
CEGIR: Updating Terminology for Eosinophilic Gastrointestinal Diseases
|
Sep 07, 2022 |
|
CEGIR: Exploring Risk Factors for SARS-CoV-2 in Children with Asthma and Allergy
|
Sep 07, 2022 |
|
CEGIR: Characterizing Variants of Eosinophilic Esophagitis
|
Sep 07, 2022 |
|
DC: Developing Specific Recommendations for Diagnosis and Classification of Blepharospasm
|
Sep 07, 2022 |
|
DC: Exploring Phenotypic Diversity and Shared Mechanisms Across the Dystonias
|
Sep 07, 2022 |
|
MGNet: Review Highlights Recent Insights on the Development of Autoimmune Myasthenia Gravis
|
Sep 07, 2022 |
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NAMDC: Investigating the Impact of Disease-Causing Missense Mutations in Pyruvate Dehydrogenase Complex Deficiency
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Sep 07, 2022 |
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PIDTC: Hematopoietic Stem Cell Transplantation Using Carrier Donors for CD40L Deficiency Results in Excellent Outcomes
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Sep 07, 2022 |
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CEGIR: New Clinical Severity Index Helps Guide Management of Eosinophilic Esophagitis
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Aug 15, 2022 |
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FCDGC: Expansion of Molecular and Phenotypic Features of ALG8-CDG Suggests Improvements for Clinical Management
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Aug 15, 2022 |
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GLIA-CTN: Identifying Patterns of Hematologic Abnormalities in Aicardi Goutières Syndrome
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Aug 15, 2022 |
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LDN: New Method Reveals Insights on Podocyte GL3 Accumulation in Female Patients with Fabry Disease
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Aug 15, 2022 |
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MGNet: New Assay Evaluates Acetylcholine Receptor Autoantibody–Mediated Complement Activity in Myasthenia Gravis
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Aug 15, 2022 |
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NAMDC: North American Mitochondrial Disease Consortium Updates Clinical Criteria for Primary Mitochondrial Syndromes
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Aug 15, 2022 |
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NAMDC: RRM1 Variants and Impaired De Novo Nucleotide Synthesis Identified as Causes of Mitochondrial DNA Depletion Syndromes
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Aug 15, 2022 |
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NEPTUNE: Kidney Biopsy Features Help Predict Clinical Outcomes in Minimal Change Disease and Focal Segmental Glomerulosclerosis
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Aug 15, 2022 |