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

News ERT Infusion Sessions Could Be Cut from 1 Hour to 10 Minutes, Gaucher Research Shows

News Cerdelga Seen to Improve Hemoglobin, Platelet Levels in Gaucher Type 1 Adults, Trials Show

News Gaucher Outcome Survey Patient Registry Provides Global Insights into Disease

News Abcertin Clinical Data Supports Use as Alternative Replacement Therapy for Type 1 GD

News Rare Disease Patient Groups Unite to Preserve Orphan Drug Tax Credit in US

News Baylor Study Links Mutations in Lysosomal Genes to Parkinson’s Disease

News JScreen Targets Universities to Test Jews for Gaucher Disease, Other Genetic Conditions

News Baby with Gaucher Type 2 Not Inherited from Mother Detailed in Case Study

News Children’s National, NORD Partner to Create Rare Disease ‘Centers of Excellence’

News Why Variations in the Neurological Manifestations of Gaucher Make It Difficult to Diagnose

News Recently Identified Biomarker Could Be Valid Diagnostic Tool for Gaucher Disease, Mouse Study Suggests

News #NORDsummit – Alternatives to Large Placebo Trials, Grant Awards Among Ways FDA Supporting Rare Diseases, Chief Says

News New Method of Diagnosing and Monitoring Gaucher Disease Uses Dried Blood Samples

News #NORDsummit – Despite Criticism, Orphan Drug Act Is Working to Advance Needed Treatments, FDA Says

News Parkinson’s Disease Risk Should Be Discussed Before Gaucher Genetic Testing, Patients Say

News Neuropathic Gaucher Disease Mutations Speed Cognitive Decline in Parkinson’s, Study Finds

News Researchers Suggest Lyso-Gb1 as Gaucher Treatment Response Marker

News High Levels of Iron During Therapy Linked to Residual Gaucher Disease, Study Finds

News Gaucher Disease Guidance Could Help Non-specialists Diagnosis It Better, Study Reports

News Nerve Cell Damage Causes Pain in Gaucher Disease Type 1 Patients, Italian Study Suggests

News Three Newly Identify Compounds Show Promise for Types 2 and 3 Gaucher Disease

News Accordant’s Gaucher Program Receives NCQA Disease Management Accreditation

News Cerdelga Trial Extension Confirms Improvements in Gaucher Type 1 Patients

News Gaucher Patients Have Mixed Views About Substrate Reduction Therapies, Study Finds