Latest Summaries

Sep 26, 2023| Diagnosis, Heart Diseases, Lung Diseases

Telemedicine: Enhancing Doctor-Patient Interactions in HAE Treatment

Importance of doctor-patient interactions in hereditary angioedema (HAE)…
Sep 21, 2023| Cardiology, Drug Development, Hematologic Disorders, Kidney And Urinary Diseases, Treatment

Birtamimab to Treat AL Amyloidosis

Dr. Hideki Garren, Chief Medical Officer at Prothena…
Sep 20, 2023| Congenital And Genetic Conditions, Diagnosis, Musculoskeletal Diseases

Treatment Options for FOP Patients

Dr. Mona Al Mukaddam of Penn Medicine describe…
Sep 18, 2023| Advocacy, Cardiology, Congenital And Genetic Conditions, Hematologic Disorders, Treatment

Lipid Profiles in Children

Dr. Mary McGowan, chief medical officer of the…
Sep 16, 2023| Cancers, Hematologic Disorders, Regulations, Treatment

FDA Approves Momelotinib To Treat Myelofibrosis

Momelotinib is a potent inhibitor of Janus kinase…
Sep 12, 2023| Endocrine Disorders, Musculoskeletal Diseases, Regulations, Treatment

A Possible Breakthrough in Acromegaly Treatment

Acromegaly, a serious and rare disease caused by…
Sep 6, 2023| Congenital And Genetic Conditions, Drug Development, Metabolic Disorders

Clinical Trial Testing Govorestat

Shoshana Shendelman, PhD, President and Chief Executive Officer…
Sep 5, 2023| Congenital And Genetic Conditions, Diagnosis, Musculoskeletal Diseases

FOP Explained

Mona Al Mukaddam, MD describes fibrodysplasia ossificans progressiva…
Sep 4, 2023| Congenital And Genetic Conditions, Drug Development, Metabolic Disorders

Applied Therapeutics Overview

Shoshana Shendelman, PhD, President and Chief Executive Officer…
Aug 24, 2023| Diagnosis, Kidney And Urinary Diseases

IgA Nephropathy Explained

Dr. Richard Lafayette, Director of the Stanford Glomerular…

CME: New and Emerging Phenotypes in Lysosomal Storage Diseases

This CME activity highlights how modern treatment options for lysosomal storage disorders have created new phenotypes for these once terminal conditions. Understanding the ‘new normal’ for these conditions can help health care providers manage their patients more effectively.

GH Deficiency Research Highlights

Paul Saenger, MD MACE, Albert Einstein College of Medicine, discusses, GHD is a rare endocrine disorder characterized by insufficient levels of growth hormone being secreted from the anterior pituitary gland.

Type 1 Galactosemia: Significant Unmet Need, Lifelong Complications, and Current Management

Type 1 galactosemia is a rare genetic disease that can be life-threatening in newborns and can lead to lifelong cognitive, neurological, and speech complications, as well as primary ovarian insufficiency in girls and women.

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.

Fabry Disease

Staci Kallish, DO highlights the latest clinical research about Fabry disease, a rare X-linked lysosomal disorder that results in the cellular buildup of globotriaosylceramide. 

Warm Autoimmune Hemolytic Anemia

Irina Murakhovskaya, MD and Bruno Fattizzo, MD discuss warm autoimmune hemolytic anemia (wAIHA), the most common type of autoimmune hemolytic anemia (AIHA). In most cases, wAIHA is due an immunoglobulin G (IgG) autoantibody that binds to red blood cells (RBC), leading to hemolysis.

Cutaneous T-Cell Lymphoma Learning Center

Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders. It is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people.

WHIM Syndrome Learning Center

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with severe neutropenia that affects all ages. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, the diagnosis may be delayed, sometimes even into adulthood.

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.

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.

Tenosynovial Giant Cell Tumor (TGCT)

Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).

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.

Rare Diseases Clinical Research Network (RDCRN)

The Rare Diseases Clinical Research Network (RDCRN) is an NIH-funded research network of 20 active consortia or research groups.

Lysosomal Storage Diseases: Central Symptoms and Comorbidities

In this CME activity, Drs. Ozlem Goker-Alpan and Swati Sathe, MD highlight how symptoms and comorbidities involving the central nervous system have a key role in how physicians manage patients with lysosomal storage disorders. .

Caring for Patients With Pulmonary Arterial Hypertension (PAH) During the COVID-19 Pandemic

Gustavo A. Heresi, MD, MS, discusses caring for patients with pulmonary arterial hypertension (PAH) during the COVID-19 pandemic.

Assessment of Biomarkers in Lysosomal Storage Diseases From a Mechanistic Approach

This CME activity highlights how treatment options for lysosomal storage disorders have created new phenotypes for this once terminal conditions.

Advances in Gene Therapy for Lysosomal Diseases

This CME/CE activity highlights the current trends in gene therapy for lysosomal storage diseases as well as some of the safety concerns with such therapy.

Updates in Medical Management of Cushing’s Syndrome: Incorporating the New Consensus Summary into Your Practice

This 30 minute CME program highlights the latest expert consensus on best practices for the treatment of persons with Cushing’s disease.

National Organization for Rare Disorders (NORD®)

The National Organization for Rare Disorders (NORD®), an independent nonprofit, is leading the fight to improve the lives of rare disease patients and families.

Diagnosis & Comorbidities in Cushing’s Disease: Incorporating the New Consensus Summary Into Your Practice

Beverly Biller, MD, Professor of Medicine at Harvard Medical School and Maria Fleseriu, MD, Professor of Medicine and Neurological Surgery at Oregon Health and Science University, highlight the latest expert consensus on best practices for diagnosing Cushing’s disease and managing the comorbidities commonly observed in persons with this rare disorder.

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