Congenital and Genetic Conditions

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

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

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

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.

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

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

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.

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.

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.

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.

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.

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. 

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.

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.