Latest Summaries

Nov 21, 2022| Autoimmune / Autoinflammatory Disorders, Diagnosis, Hematologic Disorders, Skin Conditions

What Is Mastocytosis?

Dr. Mariana C. Castells, Professor of Medicine at…
Nov 14, 2022| Drug Development, Hematologic Disorders

Mechanism of Action of Efanesoctocog Alfa to Treat Hemophilia A

Dr. Annette von Drygalski, from the University of…
Nov 10, 2022| Lung Diseases, Treatment

Can a PDE4B Inhibitor Improve Outcomes in Idiopathic Pulmonary Fibrosis?

Donald Zoz, MD, at Boehringer Ingelheim, explains the…
Nov 7, 2022| Congenital And Genetic Conditions, Drug Development, Metabolic Disorders

Can a Probiotic Help PKU Patients?

Dr. Jerry Vockley, of UPMC Children’s Hospital of…
Nov 3, 2022| Congenital And Genetic Conditions, Diagnosis, Lung Diseases

The Genetic Disorders Mucociliary Clearance Consortium

Drs. Stephanie Davis Thomas Ferkol, explain the value…

CME: Newborn Screening — From RUSP to Reality

This four-part CME curriculum is focused on Best Practices for Explaining Newborn Screening Results to Parents.This module will provide clinicians with the fundamentals of newborn screening.

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.

Type 1 Galactosemia Roundtable Discussion

This roundtable discussion features perspectives from advocates, experts, and families living with Type 1 galactosemia. Galactosemia is a rare genetic disease that can be life-threatening for newborns and cause severe lifelong complications starting as early as the first year of life.

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.

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).

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.

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.

CME: Hereditary Angioedema (HAE) Research Highlights

Paula Busse, MD, Associate Professor of Medicine at the Icahn School of Medicine at Mount Sinai, provides a summary of the latest information about hereditary angioedema (HAE).

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.

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.

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.

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.

Hereditary Angioedema (HAE) Highlights from ACAAI Annual Meeting

Jonathan Bernstein, MD is featured in this accredited CME activity that presentsf the latest information about hereditary angioedema (HAE) that was presented at the American College of Allergy, Asthma, & immunology 2021 Annual Scientific Meeting (ACAAI 2021). HAE is a rare genetic disease that results in immunologic attacks that can be life threatening.

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.

AADC Deficiency Panel Discussion

AADC deficiency is characterized by a defect in the dopa decarboxylase or DDC gene; this dysfunction leads to reduced production of the critical neurotransmitters dopamine, norepinephrine, epinephrine, and melatonin. As a result, patients with AADC deficiency can suffer deficits in vital motor function.

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. .

Highlights on Pyruvate Kinase (PK) Deficiency from the American Society of Hematology Annual Meeting

Rachael Grace, MD, MMSc is featured in this accredited CME activity on the latest information about Pyruvate kinase (PK) deficiency that was presented at the American Society of Hematology Annual Meeting (ASH 2021). PK deficiency is a rare genetic blood disorder characterized by low levels of the enzyme pyruvate kinase, which interrupts the glycolytic pathway causing hemolytic anemia.

Panel Discussion: The High Cost of Rare Diseases

Joni Rutter, PhD, Acting Director at the National Center for Advancing Translational Sciences (NCATS) and Annie Kennedy, Chief of Policy and Advocacy at the EveryLife Foundation discuss their organizations’ collective studies showing the direct and indirect costs of rare diseases in the United States. 

Panel Discussion: Data Silos Are Hindering Rare Disease Research

Data sharing is a common request in the rare disease community. Unfortunately, the realities of our current research infrastructure make it problematic for researchers to share their data. The net result is a plethora of data silos that can dramatically delay our understanding of diseases, especially ultra-rare diseases, that can lead to treatments.

CME: Paroxysmal Nocturnal Hemoglobinuria (PNH) Research Highlights

This accredited CME activity highlights the latest information about paroxysmal nocturnal hemoglobinuria (PNH) and provides expert analysis of its clinical relevance for busy members of the care team in order to help them care for patients they may encounter with this rare condition. (PNH)—a rare, acquired blood disease characterized by hemolytic anemia, bone marrow failure, thrombosis, and fatigue.

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