News Key to Early Diagnosis May Lie in Response to Chronic Anemia Treatment, Case Report Suggests

News Researchers Develop 2 Stem Cell Lines from Skin Cells of Gaucher Disease Patients

News Case Report Describes First Patient with Both Gaucher Disease, Severe Congenital Neutropenia

News Study Shows Feasibility of Screening High-risk Gaucher Patients

News Arimoclomol Restores Glucocerebrosidase Activity, Localization in Gaucher Disease

News Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish

News D409H Mutation in GBA Gene Linked to Calcification in Heart, Case Report Shows

News Case of Chinese Adolescent with Gaucher Disease Highlights Importance of Early Diagnosis, Treatment

News Enlarged Spleen, Anemia and Family History Among Factors Indicative of Diagnosis, Study Reports

News International Gaucher Alliance Created to Advocate for Patients’ Needs, Including Better Diagnosis and Care

News New GBA Mutation Causing Gaucher Type 3 with Progressive Epilepsy Described in Case Report

News Two New Mutations Linked to Gaucher Type 1 Identified in Indian Study

News Gaucher Type 1 Patient Diagnosed with Rare Corticobasal Syndrome, Study Reports

News Case Study Reports Abnormal Brain Changes in 3 Children with Gaucher Disease

News #NORDSummit – Major Issues on Table for Rare Disease Patients in US as Midterm Elections Approach

News Case Report on 3 Relatives Stresses Importance of Early Diagnosis and ERT in Gaucher Disease

News Children with Type 1 Gaucher Disease Show Changes in Motor and Sensory Brain Networks, Study Finds

News ‘Lantern Project’ Shines Light on Genetic Testing for Rare Disease Diagnosis

News Cerdelga May Be a Cost-saving Treatment Option for Gaucher Type 1, Study Finds

News Cerdelga Continuously Provides Long-term Benefits for Gaucher Patients, Study Shows

News Advocacy Groups, Doctors Question Rising Prices of Rare Disease Treatments

News Worsening of Untreated Retinal Detachment in Boy with Gaucher Type 3 Described in Case Report

News AVROBIO Advances AVR-RD-02 Gene Therapy into Gaucher Disease Phase 1/2 Trial in Canada

News Lab-grown Bone Cells May Predict Gaucher Patients’ Response to Bone Disease Therapy

News #NORDSummit – More Than 700 Expected to Attend Oct. 15-16 Rare Disease Summit in Washington

News Oral Medication Linked to Better Quality of Life Over Infusion Therapy in Gaucher Disease, Study Suggests

News Liver Fibrosis Common in Gaucher Type 1, and ERT Is Seen to Be Beneficial, Study Reports

News Early Gene Therapy Holds Promise to Treat Gaucher Disease, Mouse Study Shows

News Sanofi’s Cerezyme Should Be Administered Under Current Guidelines with Potential for Change, Study Says

News Multiparametric MRI May Help Identify, Monitor Bone Lesions in Gaucher Patients, Study Suggests

News Type 3 Gaucher Disease Is Most Common Subtype in Filipinos, Study Shows

News Blood Infection Kills Untreated Gaucher Patients at Higher Rate, Study Finds

News Elelyso Clears Disease Cells from Bone Marrow of GD Type 1, Study Reports

News More Rapid Infusions of VPRIV Still Safe, Effective for Gaucher Type 1 Patients, Study Finds

News Prenatal Gene Therapy May Prevent Brain Damage in Gaucher Type 2, Mouse Study Suggests

News Genetically Modified Plant Roots May Be Better for Producing Key Enzyme in Gaucher Therapy, Study Shows

News New GBA Mutation Found, Linked to Gaucher Type 1 in Japanese Patient, Case Report Reveals

News Computational Analysis Identifies Mutation That May Be Targeted in Gaucher, Parkinson’s Diseases

News Excess Sphingolipids in Gaucher Disease Plays Important Role in Bone Disease, Study Finds

News Similar Symptoms of Gaucher and Primary Myelofibrosis Can Result in Misdiagnosis, Case Report Shows

News Gaucher Types Not Differentiated by Presence of Neurological Symptoms, Study Reports

News Improved Quantification Method May Help Better Assess Gaucher Biomarker, Researchers Say

News Brain Inflammation in Gaucher, Other Lysosomal Disorders Caused by Resident Immune Cells, Mouse Study Finds

News Laparoscopy May Help Treat Spleen Cysts in Gaucher Disease, Case Study Reports

News Simple Tools Can Avoid Biopsies, Speed Diagnosis of Gaucher Disease Type 1, Review Says

News Doctors Use Noninvasive Method to Monitor Liver Treatment’s Effectiveness in Pediatric Patient

Just Published, News Gaucher Disease May Not Promote Faster Parkinson’s Progression, Case Study Suggests

News Study Analyzes Incidence Rates of Lysosomal Disorders from 4 Years of Newborn Screening

News US ‘Right to Try’ Law Meets with Mix of Praise and Criticism, Including Among Those with Rare Diseases

News New Mutations Found in 3 of 4 Babies with Gaucher Type 2 in Turkish Study

News #ERDC2018 – When Treating Rare Disease Patients, Don’t Overlook Quality of Life, Panel Urges

News Business Partnership to Study Arimoclomol in Phase 2 Trial for Neuronopathic GD Patients

News Gaucher Patients, Families Ask to Comment on New Zealand Plan to Switch to Elelyso as Funded ERT

News Rare Case of Gaucher Disease and Chronic Myeloid Leukemia Reported in Spain

News FDA Approves Miglustat, 1st Generic Equivalent of Zavesca, to Treat Gaucher Patients

News ‘Rare Impact Awards’ Dinner Marks Orphan Drug Act and NORD at 35

News #ECRD2018 – EU Must Do More for Rare Disease Patients, Eurordis Leaders Say

News Gaucher Type 1 Children Have White Matter Changes in Brain Before Symptoms Appear, Study Shows

News Lyso-Gb1 Also Reliable Response-to-Therapy Biomarker for Gaucher Patients, Study Finds

News Fat Accumulation in Brain May Explain Gaucher’s-Parkinson’s Link, Mouse Study Suggests

News Small Molecule Increases Glucocerebrosidase Activity, May Be Gaucher Therapy

News #ECRD2018 – Patient Access and Collaboration Focus of Eurordis Meeting May 10-12

News 3 New Mutations Likely to Cause Gaucher Type 2 Identified in Turkish Study

News Early Diagnosis of Gaucher in At-risk Children Possible Using Dried Blood Spots, Study Reports

News Gaucher Disease a Rare Cause of Liver, Spleen Enlargement, Case Report Finds

News Dried Blood Samples Are Easy, Cheap, Effective for Early Diagnosis of GD Types 2-3, Study Says

News NIH Agency Pioneers Collaborative Research into Rare Diseases

News Simultaneous Enzyme Screening Detects Gaucher and Two Other Diseases, Study Reports

News Sanofi Launches Phase 3 Trial of Cerdelga with and Without Cerezyme in Young GD Patients

News Gaucher Patients Sought for Survey About Lysosomal Storage Disorders Treatment

News Gaucher Could Contribute to Brain Aneurysms That Can Cause Stroke, Case Study Suggests

News Parkinson’s Markers Initiative Enrolling Gaucher Patients in Study

News Enzyme’s Levels Could Help Determine if a Gaucher Treatment Is Working, Study Reports

News Enzyme Replacement Therapy Improves Quality of Life in Children with GD1, Study Shows

News Late Gaucher Diagnosis Can Worsen Health and Quality of Life, Case Study Shows

News Genome Sequencing and Its Clinical Potential Focus of NYC Rare Disease Day Event

News Stem Cell-based Therapy Improves Motor Function, Lifespan in Mouse Model of Neuronopathic Gaucher

News ‘A Disease May Be Rare, Hope Should Never Be,’ Says Boy with SMARD at Connecticut Rare Disease Day Event

News Enzyme Replacement Therapy and Bisphosphonates Can Limit Gaucher Bone Loss, Study Shows

News Rare Disease Groups Welcome FDA’s Embrace of ‘Real World’ Data in Clinical Trials

News US Lawmakers Urge Bipartisan Support for Rare Disease Research, Patients’ Needs

News Gaucher Outcome Survey Helps Track Global Treatment Strategies

News Pregnant Gaucher Disease Patients Can Continue Enzyme Replacement Therapy, Study Finds

News Retrophin, Horizon Donate $3M Each to Rare Disease Institute at Children’s National

News Newly identified Player in Gaucher Disease Could be Helpful in Diagnosis, Monitoring, Study Says

News BioNews to Cover 3 Rare Disease Day Events, Including NIH Conference

News Patient Advocacy Groups Worldwide Plan Events to Mark Rare Disease Day, Feb. 28

News Twice-a-day Cerdelga Is Slightly Better Than Once-a-day Regimen for Gaucher, Trial Shows

News Possible Treatment for Neuropathic Gaucher Disease, Arimoclomol, Shows Potential in Early Study

News Rare Disease Groups, Patients Differ on ‘Right to Try’ Bill Before US Congress

News MRE Analysis of Liver Stiffness Helps Monitor Disease Severity in GD Type 1 Patients

News Impaired Eye Movements Correlate with Clinical Status of GD Type 3, Study Finds

News Some GD Type 1 Patients May Benefit from ERT-SRT Therapy Combo, Case Report Shows

News NORD Fundraiser Sets 7,000-Mile ‘Bike, Run or Walk’ Goal for 7,000 Rare Diseases

News Ambroxol May Have Multiple Effects on Neurons in Gaucher, Parkinson’s Diseases

News Brazilian Researchers Establish Nursing Diagnosis Guidelines for Gaucher Disease

News Researchers Identify New Therapeutic Target for Gaucher-Linked Bone Disease

News Survey May Help Understand Clinical Features of Gaucher Disease Type 3

News Altered Iron Metabolism Linked to Excess Ferritin Levels in GD, Study Finds

News Coexisting Gaucher and Thalassemia May Complicate Diagnosis, Case Study Suggests