Rare Research Report

GLIA-CTN: Investigating Language Skills in Children with Alexander Disease

27 Mar 2026

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 American ...

SP-CERN: Evaluating the Use of Genome Sequencing in Diagnosing Children with Progressive Movement Disorders

27 Mar 2026

Contributed by Lukas

New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal B...

GLIA-CTN: Exploring the Use of Glial Fibrillary Acidic Protein as a Biomarker in Alexander Disease

24 Feb 2026

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...

GLIA-CTN: Reviewing Pathology and Interventions in Cerebral X-Linked Adrenoleukodystrophy

24 Feb 2026

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...

NAMDC: Using a New Statistical Technique for Accelerometer Data to Assess a Treatment for Mitochondrial Disease

24 Feb 2026

Contributed by Lukas

New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Annals of Cli...

SP-CERN: Assessing Health-Related Quality of Life in Children with Rare Forms of Hereditary Spastic Paraplegia

24 Feb 2026

Contributed by Lukas

New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal A...

SP-CERN: Investigating the ATG9A Ratio as a Diagnostic Tool for Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia

24 Feb 2026

Contributed by Lukas

New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal A...

UCDC: Evaluating a New Food Photography App for Measuring Dietary Intake in Urea Cycle Disorders

24 Feb 2026

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: Assessing Temporomandibular Joints in Patients with Osteogenesis Imperfecta

28 Jan 2026

Contributed by Lukas

New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Oral Surgery, Oral Medicine,...

SP-CERN: Evaluating Plasma Neurofilament Light Chain as a Biomarker for Hereditary Spastic Paraplegia-SPG11 and -ZFYVE26

28 Jan 2026

Contributed by Lukas

New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal M...

SP-CERN: Exploring the Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia

28 Jan 2026

Contributed by Lukas

New research from the Spastic Paraplegia Centers of Excellence Research Network (SP-CERN). This summary is based on a paper published in the journal M...

CPIC: Exploring Prevention of Congenital Cytomegalovirus Infection

22 Dec 2025

Contributed by Lukas

New research from the Congenital and Perinatal Infections Consortium (CPIC). This summary is based on a paper published in the journal Seminars in Fet...

CEGIR: Exploring the Use of Artificial Intelligence Tools in the Detection and Management of Eosinophilic Gastrointestinal Disorders

22 Dec 2025

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...

DSC: Characterizing Key Factors that Correlate with Sleep Problems in Rare Neurodevelopmental Genetic Disorders

22 Dec 2025

Contributed by Lukas

New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the Journal of Autism and Developme...

DSC: Developing a Fully Automated Algorithm for Tuber Segmentation and Quantification of Tuber Volume in Tuberous Sclerosis Complex

22 Dec 2025

Contributed by Lukas

New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Epilepsia on November 1...

MGNet: Building a Quantitative Telemedicine Platform for Myasthenia Gravis

22 Dec 2025

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 ...

BVMC: Assessing Disparities in Access to Clinical Care and Research for Patients with Hereditary Hemorrhagic Telangiectasia

25 Nov 2025

Contributed by Lukas

New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the Orphanet Journal of Rare Disea...

GLIA-CTN: Working with Caregivers to Capture Lived Experiences of Children with Multiple Sulfatase Deficiency

25 Nov 2025

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 ...

MGNet: Evaluating the Therapeutic Potential of Immunoglobin G- and Immunoglobin M-Specific Proteases in AChR-Positive Myasthenia Gravis

25 Nov 2025

Contributed by Lukas

New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Proceedings of the Na...

GLIA-CTN: Discovering a New Pathogenic Variant in Canavan Disease

28 Oct 2025

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 H...

MGNet: Comparing Differences in Proteins Among Patients with Early-Onset and Late-Onset Myasthenia Gravis

28 Oct 2025

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 Neurology o...

BVMC: Comparing Circulating microRNAs in Neurovascular Disorders

28 Sep 2025

Contributed by Lukas

New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Biochemistry and Bioph...

GLIA-CTN: Examining the Molecular Mechanisms of Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

28 Sep 2025

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 ...

MGNet: Exploring the Effect of Atypical B Cells on Immune Response in Myasthenia Gravis

28 Sep 2025

Contributed by Lukas

New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Frontiers in Immunolog...

MGNet: Investigating Pathogenic Properties of Acetylcholine Receptor Autoantibodies in Myasthenia Gravis

28 Sep 2025

Contributed by Lukas

New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the journal Neurology Neuroimmuno...

BBDC: Exploring Caregiver Experiences, Social Support, and Impact on Family Life in Osteogenesis Imperfecta

26 Aug 2025

Contributed by Lukas

New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Families, Systems, and Healt...

FCDGC: Diagnosing a New Case of Mannosyl-Oligosaccharide Glucosidase-Congenital Disorder of Glycosylation

26 Aug 2025

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: Investigating the Correlation Between Disease Severity and Genetic Variants in Charcot-Marie-Tooth Disease Type 1E

26 Aug 2025

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 9, 2025, titled "...

LDN: Evaluating Health-Related Quality of Life and Family Function in CLN3 Disease

26 Aug 2025

Contributed by Lukas

New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Pediatric Neurology on June 16, 2025,...

MGNet: Validating the Patient-Acceptable Symptom State (PASS) Question in Acetylcholine Receptor Myasthenia Gravis

26 Aug 2025

Contributed by Lukas

New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the European Journal of Neurology ...

DC: Exploring Genetic Diversity and Phenotypes in Dystonia

23 Jul 2025

Contributed by Lukas

New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Annals of Clinical and Translational Neurolog...

DSC: Exploring the Relationship Between Genomic Diversity and Neurodevelopmental Versus Cancer Risks in Individuals with PHTS

23 Jul 2025

Contributed by Lukas

New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal npj Genomic Medicine on...

DSC: Using Genome Sequencing to Identify Additional Molecular Diagnoses in Phelan-McDermid Syndrome

23 Jul 2025

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...

FCDGC: Examining Metabolomic Changes in a Patient with PGM1-Congenital Disorder of Glycosylation and Leigh Syndrome

23 Jul 2025

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: Characterizing Diagnostic Delays in Metachromatic Leukodystrophy

23 Jul 2025

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...

MGNet: Developing an Artificial Intelligence-Based Assessment of Telehealth Examinations in Myasthenia Gravis

23 Jul 2025

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 ...

MGNet: Discussing the Impact of Rescue Therapy in Clinical Trials for Myasthenia Gravis

23 Jul 2025

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...

NEPTUNE: Exploring the Relationship Between Air Pollution and Primary Glomerular Diseases

23 Jul 2025

Contributed by Lukas

New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the Clinical Kidney Journal on May 13,...

CEGIR: Exploring the Underlying Causes of Symptom Severity in Eosinophilic Esophagitis

29 Jan 2025

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...

DSC: Evaluating Remote Monitoring of Social Attention in Neurodevelopmental Genetic Syndromes

29 Jan 2025

Contributed by Lukas

New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Autism Research on Dece...

INC: Investigating Patient Perspectives on Disease Burden Over Time in Charcot-Marie-Tooth Disease

29 Jan 2025

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...

MGNet: Comparing the Accuracy of Radioimmunoassay and Fixed Cell-Based Assay for Diagnosis of Myasthenia Gravis

29 Jan 2025

Contributed by Lukas

New research from the Myasthenia Gravis Rare Disease Network (MGNet). This summary is based on a paper published in the European Journal of Neurology ...

NAMDC: Exploring the Clinical Utility of Growth Differentiation Factor 15 as a Biomarker for Primary Mitochondrial Disorders

29 Jan 2025

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 Inherited ...

BVMC: Determining Current Rescreening Practices for Brain and Lung Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia

18 Dec 2024

Contributed by Lukas

New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the Orphanet Journal of Rare Diseas...

CEGIR: Comparing Parent and Child Patient-Reported Outcomes in Eosinophilic Esophagitis Over Time

18 Dec 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...

FCDGC: Evaluating the Use of RNA Sequencing to Clarify Variants of Uncertain Significance in a Clinical Setting

18 Dec 2024

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: Characterizing Family Perspectives to Define Health Concepts in β-Propeller Protein–Associated Neurodegeneration

18 Dec 2024

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...

MGNet: Proposing an Artificial Intelligence-Powered Telemedicine Tool for Automatic Scoring of Neuromuscular Exams in Myasthenia Gravis

18 Dec 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 Bioengineering on Sept...

PC: Developing a Wearable Light Dosimeter to Improve Quality of Life in Patients with Erythropoietic Protoporphyria

18 Dec 2024

Contributed by Lukas

New research from the Porphyrias Consortium (PC). This summary is based on a paper published in the International Journal of Dermatology in November 2...

DSC: Assessing the Current State of Professional Society Guidelines for Genetic Testing of Neurodevelopmental Disorders

26 Nov 2024

Contributed by Lukas

New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the journal Annals of Neurology on ...

DSC: Evaluating the Prevalence and Risk of Aortic Root Dilation in Patients with Phelan-McDermid Syndrome

26 Nov 2024

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...

FCDGC: Evaluating the O-GlcNAc Transferase Interactome to Identify Mechanistic Targets for OGT-Congenital Disorder of Glycosylation

26 Nov 2024

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: Identifying a Pathogenic Non-Coding Variant in a Genetically Unsolved Case of Primary Ciliary Dyskinesia

26 Nov 2024

Contributed by Lukas

New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the American Journa...

NAMDC: Identifying a New and Potentially Treatable Cause of Mitochondrial DNA Depletion/Deletions Syndrome

26 Nov 2024

Contributed by Lukas

New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Annals of Neu...

NAMDC: Using a Proteomics-Based Approach for Ultra-Rapid Diagnosis of Pyruvate Dehydrogenase Complex Deficiency

26 Nov 2024

Contributed by Lukas

New research from the North American Mitochondrial Disease Consortium (NAMDC). This summary is based on a paper published in the journal Mitochondrion...

CEGIR: Exploring Clinical and Molecular Features Associated with the Index of Severity for Eosinophilic Esophagitis

24 Oct 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...

GDMCC: Estimating the Global Prevalence of Primary Ciliary Dyskinesia

24 Oct 2024

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 of Alle...

GLIA-CTN and LDN: Exploring the Relationship Between Early Development Delay and Neurologic Regression in Metachromatic Leukodystrophy

24 Oct 2024

Contributed by Lukas

New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN) and the Lysosomal Disease Network (LDN). This summary is bas...

INC: Exploring the Long-Term Outcomes of High-Dose Oral Riboflavin in Children with Riboflavin Transporter Deficiency

24 Oct 2024

Contributed by Lukas

New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Developmental Medicine and Chil...

INC: Investigating the Impact of Whole-Genome Sequencing on the Diagnostic Rate of Charcot-Marie-Tooth Disease

24 Oct 2024

Contributed by Lukas

New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Brain on September 3, 2024, tit...

NEPTUNE: Exploring How Residential Air Pollution Affects Disease Progression in Patients with Primary Glomerular Diseases

24 Oct 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 Repor...

PHEFREE: Sharing Patient Stories About the Early Years Following Newborn Screening for Phenylketonuria

24 Oct 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...

UCDC: Investigating the Link Between Seizures and Hyperammonemic Crises in Individuals with Urea Cycle Disorders

24 Oct 2024

Contributed by Lukas

New research from the Urea Cycle Disorders Consortium (UCDC). This summary is based on a paper published in the journal Pediatric Neurology in October...

BBDC: Exploring Bone Age Maturation During Adolescent Growth in Patients with Osteogenesis Imperfecta

25 Sep 2024

Contributed by Lukas

New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Bone on July 4, 2024, titled...

DSC: Examining the Morphological Features of Cortical Language Regions in Individuals with Tuberous Sclerosis Complex

25 Sep 2024

Contributed by Lukas

New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the Journal of Autism and Developme...

INC: Expanding the Phenotype of Peroxisome Biogenesis Disorders by Uncovering a New Genetic Variant

25 Sep 2024

Contributed by Lukas

New research from the Inherited Neuropathy Consortium (INC). This summary is based on a paper published in the journal Movement Disorders Clinical Pra...

PHEFREE: Reporting Initial Data from a Natural History Study of Individuals with Phenylketonuria

25 Sep 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...

FCDGC: Exploring the Natural History of Congenital Disorders of Glycosylation

30 Aug 2024

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: Identifying a New Genetic Cause in Unsolved Cases of Bronchiectasis

30 Aug 2024

Contributed by Lukas

New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the American Journa...

GLIA-CTN: Describing Anesthetic Outcomes of Pediatric Patients with Alexander Disease

30 Aug 2024

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 P...

GLIA-CTN: Illustrating the Diagnostic Utility of Genome Sequencing in Pediatric Cases of Neurodevelopmental Disorders

30 Aug 2024

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 American...

INC: Analyzing Genetic Modifiers to Characterize Severity in Patients with Charcot-Marie-Tooth Disease Type 1A

30 Aug 2024

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: Describing a New Subtype of Distal Hereditary Motor Neuropathy Caused by RTN2 Deficiency

30 Aug 2024

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 25, 2024, titled...

MGNet: Exploring the Frequency and Timing of Cancer in Patients with Muscle-Specific Kinase Myasthenia Gravis

30 Aug 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 Annals of Neurology on...

MGNet: Investigating Autoreactivity to Enhance Evaluation of Therapies for Autoimmune Diseases

30 Aug 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 of Clinical Investigat...

NEPTUNE: Using an Artificial Intelligence Tool to Improve Digital Pathology Labeling

30 Aug 2024

Contributed by Lukas

New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal npj Digital Medicine on Ju...

BVMC: Measuring the Angiographic Compactness Score for Brain Arteriovenous Malformations in Children with Hereditary Hemorrhagic Telangiecta

26 Jul 2024

Contributed by Lukas

New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Child’s Nervous Syste...

DC: Exploring Factors and Mechanisms Underlying Differences Between Males and Females with Dystonia

26 Jul 2024

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 May 2...

DC: Using Proteomics Methods to Identify Changes in Blood Plasma Proteins in Patients with Adult-Onset Focal Dystonias

26 Jul 2024

Contributed by Lukas

New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Annals of Neurology on April 5, 2024, titled ...

DSC: Examining the Function of the Blood-Brain Barrier in Tuberous Sclerosis Complex

26 Jul 2024

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: Describing the Latest Advancements in Primary Ciliary Dyskinesia

26 Jul 2024

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 Pediatr...

GLIA-CTN: Assessing Balance and Gait in Adults with Adrenoleukodystrophy Using Wearable Sensors

26 Jul 2024

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...

BVMC: Investigating the Formation of New Brain Vascular Malformations in Patients with Hereditary Hemorrhagic Telangiectasia

26 Jun 2024

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 ...

GDMCC: Investigating Clinical Outcomes of Children with Primary Ciliary Dyskinesia and Situs Ambiguus

26 Jun 2024

Contributed by Lukas

New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the CHEST Journal o...

GLIA-CTN: Describing Patients with TBL1XR1-Related Disorder Using a Caregiver Survey

26 Jun 2024

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 Orphanet ...

GLIA-CTN: Sharing a New Approach to Creating Longitudinal Natural History Studies for Rare Diseases

26 Jun 2024

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...

UCDC: Exploring Risk Factors in Asymptomatic Females with Ornithine Transcarbamylase Deficiency

26 Jun 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 Genomic...

BBDC: Discussing Genetic Testing for Monogenic Disorders of Osteoporosis

29 May 2024

Contributed by Lukas

New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Current Osteoporosis Reports...

FCDGC: Investigating the Effects of Glycan Extension Deficiency in ALG3-CDG

29 May 2024

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 Potential Biomarkers for Alexander Disease

29 May 2024

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 N...

LDN: Exploring Management Approaches for High-Sustained Anti-rhGAA IgG Antibody Titers in Patients with Pompe Disease

29 May 2024

Contributed by Lukas

New research from the Lysosomal Disease Network (LDN). This summary is based on a paper published in the journal Frontiers in Immunology on March 8, 2...

NEPTUNE: Investigating the Association of Fibroblast Growth Factor 23 with Blood Pressure in Primary Proteinuric Glomerulopathies

29 May 2024

Contributed by Lukas

New research from the Nephrotic Syndrome Study Network (NEPTUNE). This summary is based on a paper published in the journal Neurological Sciences on A...

PIDTC: Exploring the Impact of Various Methods for Measuring PHA-Based T Cell Growth in Patients with Severe Combined Immunodeficiency

29 May 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 Clinical Immun...

BBDC: Summarizing Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta

24 Apr 2024

Contributed by Lukas

New research from the Brittle Bone Disorders Consortium (BBDC). This summary is based on a paper published in the journal Calcified Tissue Internation...

BVMC: Developing a Quantitative Approach to Measure Deep Medullary Vein Volumes in Patients with Sturge-Weber Syndrome

24 Apr 2024

Contributed by Lukas

New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Quantitative Imaging in...

FCDGC: Exploring Proteomics and N-Glycoproteomics in ALG1-Congenital Disorder of Glycosylation

24 Apr 2024

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: Exploring the Neurological Characteristics of PMM2-Congenital Disorder of Glycosylation Using Human In Vitro Neural Models

24 Apr 2024

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: Reporting Cases of Intermediate Nerve Conduction Velocity in Patients with Charcot-Marie-Tooth Disease Type 1A

24 Apr 2024

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 Febru...

MGNet: Investigating the Characteristics of Natural Killer Cells in Patients with Autoantibody-Mediated Autoimmune Diseases

24 Apr 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 of Immunology on Marc...

PIDTC: Investigating Outcomes of Allogeneic Hematopoietic Cell Transplantation in Patients with P47phox Chronic Granulomatous Disease

24 Apr 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 of Allergy and...