Latest Summaries

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

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

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.

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).

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.

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.

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

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).

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

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.

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

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.

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. .

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.

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.

This accredited CME activity, led by Satheesh Chonat, MD, Assistant Professor at Emory University School of Medicine and hematologist-oncologists at the Pediatric Hematology Aflac Cancer and Blood Disorders Center, Children’s Healthcare of Atlanta, highlights the latest real world data focused on paroxysmal nocturnal hemoglobinuria (PNH).

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.

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.

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.

This accredited CME activity, led by Gregory Grabowski, MD, Professor Emeritus at University of Cincinnati College of Medicine, highlights the latest research about Gaucher disease presented at WORLDSymposium 2022 along with expert analysis of its clinical relevance for busy members of the care team to help them care for patients they may encounter with this rare condition.

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

This CME activity highlights how enzyme replacement therapies (ERTs) and substrate reduction therapies (SRTs) for lysosomal storage disorders have transformed, and will continue to transform, the treatment landscape for these rare conditions.

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

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.

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

This accredited CME activity, led by Barbara Burton, MD, Professor of Pediatrics at Northwestern University Feinberg School of Medicine, highlights the latest research about Mucopolysaccharidosis type II.

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

This module will focus on hemoglobinopathies and newer disorders which are part of the Recommended Uniform Screening Panel (RUSP) in order to better prepare clinicians to discuss positive results with new parents.

This module will focus on metabolic diseases which are part of the Recommended Uniform Screening Panel (RUSP) in order to better prepare clinicians to discuss positive results with new parents.

Bonnie Smeryage, NP, Pediatric Nurse Practitioner in Hollywood, FL, discusses the benefits of liquid formulations in pediatric populations.

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

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.

This module will focus on how to talk to parents about positive NBS results.