Lysosomal Storage Disorders

Jun 22, 2022| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Diagnosis, Drug Development, Endocrine Disorders, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment

New Report Estimates the Number of Rare Diseases Is More Than 10,000 

Kirk Lamoreaux, discusses ‘The Power of Being Counted,’…
Jun 21, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Drug Development, Lysosomal Storage Disorders, Neurology/Nervous System Diseases

Positive Interim Data in Gene Therapy Trial for GM1 Gangliosidosis

Dr. Mark Forman, Chief Medical Officer at Passage…
Jun 16, 2022| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Diagnosis, Drug Development, Endocrine Disorders, Expert Perspectives, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment

NORD’s Rare Disease Centers of Excellence Benefits Individuals and Communities

Dr. Priya Kishnani at Duke University School of…
Jun 1, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Lysosomal Storage Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases

What Is Alpha Mannosidosis?

Dr. Barbara Burton of the Lurie Children’s Hospital…
May 30, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Drug Development, Lysosomal Storage Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases

An Interview With Dr. Raymond Wang About Mucopolysaccharidosis Type I (MPS I) 

Dr. Raymond Wang talks to CheckRare about mucopolysaccharidosis…
May 25, 2022| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Diagnosis, Drug Development, Endocrine Disorders, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment

11 Rare Disease Research Working Groups In Development 

Dr Edward Neilan of NORD discusses how the…
May 23, 2022| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Cancers, Congenital And Genetic Conditions, Diagnosis, Drug Development, Endocrine Disorders, Expert Perspectives, Gastrointestinal Diseases, Heart Diseases, Hematologic Disorders, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases, Ophthalmology/Eye Diseases, Regulations, Skin Conditions, Treatment

NORD’s Centers of Excellence Addresses Unmet Medical Needs

As Dr. Bodamer explains, one of the goals…
May 20, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Heart Diseases, Lung Diseases, Lysosomal Storage Disorders, Neurology/Nervous System Diseases, Treatment

Pompe Disease Requires a Multidisciplinary Approach 

Dr. Priya Kishnani, Professor of Pediatrics at the…
May 17, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Heart Diseases, Lysosomal Storage Disorders

The Importance of Determining the Etiology of Left Ventricular Hypertrophy

Dr. John Jefferies discusses the importance of determining…
May 16, 2022| Posted in: Congenital And Genetic Conditions, Drug Development, Kidney And Urinary Diseases, Lung Diseases, Lysosomal Storage Disorders, Metabolic Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases

Positive Data from Regenxbio’s Gene Therapy Trials for MPS I and MPS II

Steve Pakola, MD discusses data from the ongoing…

Current and Emerging Therapies for Lysosomal Storage Disease

Drs. Goker-Alpan and Zimran provide an overview of current and emerging therapies for lysosomal storage diseases in this CME program.

Gaucher Disease Research Highlights

Derralynn Hughes, MD discusses Gaucher disease data presented at American Society of Hematology Annual Meeting (ASH 2020).

Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Learning Center

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare, genetic disorder that affects the central nervous systems of young patients.

Clinical Diversity and Genetic Variation in Lysosomal Disorders

In this CME activity, Drs. Ozlem Goker-Alpan, Gregory Grabowski, and Soumeya Bekri discuss clinical diversity and genetic variation in lysosomal disorders.

Novel Technologies and Emerging Therapies for Precision Medicine

In this CME program, Drs. Shoshana Revel-Vilk and Neil Joseph Weinreb discuss novel technologies and mmerging therapies for precision medicine.

Preclinical Studies and Clinical Trials Towards Individualized Therapies

In this CME program, Drs. Ari Zimran, Gustavo Maegawa, and Nina Raben, MD discuss preclinical studies and clinical trials regarding individualized therapies.

Drug Compounding: What Physicians and Patients Need to Know

Drug compounding is often regarded as the process of combining, mixing, or altering ingredients to create a medication tailored to the needs of an individual patient. This can be especially relevant for rare disease patients. For more information on drug compounding including FDA resources, visit the CheckRare Drug Compounding Resource page.

Lysosomal Storage Disorders

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