Integrated Care Model for High-Risk DiseasesKerry Mello-Parker, from Shields Health Solutions, discusses the…
Common Concerns About GalactosemiaBrittany Cudzilo, of the Galactosemia Foundation, discusses some…
The Pathophysiology of GalactosemiaJerry Vockley, MD, PhD, of the University of…
Clinical Trial Update: STRIDE StudyDr. Alex Dorenbaum, from Reneo Pharmaceuticals, gives an…
Primary Mitochondrial Myopathy ExplainedDr. Alex Dorenbaum, from Reneo Pharmaceuticals, gives an…
Are Gene Therapy Clinical Trials Safe?Dr. Peter Marks of the FDA talks about…
Rett Syndrome and the National Institute of Neurological Disorder and Stroke (NINDS)Laura Mamounas PhD, Program Director at the…
Biomarkers and Clinical TrialsDr. Peter Marks of the FDA talks about…
Gene Therapy: Lessons Learned From the PandemicDr. Peter Marks of the FDA talks about…
Enteric Hyperoxaluria ExplainedDr. Kyle Wood explains that enteric hyperoxaluria is…
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.
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.
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.
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.
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).
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.
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.
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).
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.
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.
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.
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.
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.
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.
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. .
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.
Current and Emerging ERTs/SRTs
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.
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.
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.
Gaucher Disease Research Highlights: WORLDSymposium 2022
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.
Newborn Screening: Talking to Parents
This module will focus on how to talk to parents about positive NBS results.
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.
MPS II Research Highlights: WORLDSymposium 2022
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.
Benefits of Liquid Formulations in Pediatric Populations
Bonnie Smeryage, NP, Pediatric Nurse Practitioner in Hollywood, FL, discusses the benefits of liquid formulations in pediatric populations.
Newborn Screening: Metabolic Conditions
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.
PNH: Real-world Experience
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).
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.
Newborn Screening: Hemoglobinopathies and Newer Disorders on the RUSP
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.