News Preclinical Data Has AVR-RD-02 Gene Therapy on Track for First Trial in Humans

News Gene Activity Profiling Reinforces Inflammation’s Role in Gaucher Disease

News Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns

News Gaucher Disease Leads to Eye Manifestations Needing Early Diagnosis, Treatment, Review Suggests

News Nonprofit Group Works to Raise Rare Disease Awareness in India

News Detection of Gaucher Biomarker Not Affected by Similar Molecule, Study Reveals

News Better Measures Needed in Morocco to Avoid Underdiagnosis of Gaucher Disease, Case Report Suggests

News Case Report Raises Awareness on Multiple Myeloma Risk in Gaucher Disease Patients

News Microscopy Approach Enables Precise Visualization of GBA Used in Enzyme Replacement Therapy

News Computer Model Reveals Changes in Glucocerebrosidase Function in Certain Gaucher Mutations

News At Vienna Conference, Gaucher Experts Discuss Treatment of ‘Model Disease’

News Gaucher-induced Spine Lesion Triggers Neurological Symptoms in Type 1 Disease, Case Report Says

News Compound Selective for GBA Enzyme Leads to Better Gaucher Models in Zebra Fish, Study Reports

News Enzyme with Cerezyme-like Properties Can Be Produced in Rice Cells, Study Says

News Britain’s Madeline Collin Strives to be Voice of Hope for Other Gaucher Disease Patients

News Gaucher Patients Should Be Monitored Carefully for Bone Health, Case Report Suggests

News Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn

News GD1 Patients Show High Prevalence of Irreversible Bone Lesions, Study Reports

News Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist

News NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research

News Aneurysms in Spleen Artery Underreported in Gaucher Patients, Case Report Says

News Gaucher Patients Have More Complications, Illnesses than the General Population, Israeli Study Suggests

News Four New Gaucher Disease Mutations Found in Indian Patients

News WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April

News GD Biomarker Chitotriosidase Not Associated with Symptom Severity in Untreated Patients, Study Reports

News Vienna to Host RARE2019 Meeting on Rare Diseases

News Elelyso Safe for Use While Breastfeeding, Case Study Finds

News Approved Bladder Pain Therapy Being Repurposed for Lysosomal Storage Disorders

News NGF President and CEO Pays Tribute to ‘Scientific Legend’ in Gaucher, Other Metabolic Storage Disorders

News Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide

News Blood Cells Could Help Screen Ambroxol’s Efficacy in GD Type 3

News ERT Helps Partially Restore Recycling Process in Cells from Gaucher, Fabry Patients, Study Shows

News ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration

News Cerezyme and Cerdelga Equally Effective in Treating Gaucher Type 1, Small Study Reports

News FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases

News Case Report of Multi-Generational GD Highlights Importance of Cascade Screening

News Gaucher Disease May Rarely Include GI Symptoms, Case Report Highlights

News Computer Simulation Identifies Treatments More Likely to Correct GBA Transport in Gaucher Patients, Study Says

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