Signs and Symptoms of Fabry DiseaseDr. Ankit Mehta, from Baylor University Medical Center,…
Bernie Williams: Tune in To Lung HealthBernie William, former New York Yankee and current…
HoFH Patient Diagnostic JourneyAn HoFH patient describes his diagnostic journey following…
No Decline in Efficacy After 145+ Weeks of Avalglucosidase Alfa Treating Late-onset Pompe DiseaseDr. Priya Kishnani, Professor of Pediatrics at the…
Treatment of Charcot-Marie-Tooth Disease Type 1AArthur Suckow, Ph.D., chief executive officer at DTx…
Reducing Barriers to Participate in Clinical TrialsScott Gray, CEO of Clincierge, discusses barriers to clinical…
Infantile-onset vs Late-onset Pompe DiseaseDr. Priya Kishnani, Professor of Pediatrics at the…
Immunoglobulin A (IgA) Nephropathy ExplainedDr. Jonathan Barratt, from University of Leicester in…
CTCL: Criteria to Diagnose, Counsel Patients, and Work-Up for Early-Stage Mycosis FungoidesWHIM syndrome is a rare, congenital primary immunodeficiency…
Fabry Disease in FemalesAnkit Mehta, MD, Nephrologist and Program Director…
Bernie Williams Discusses Interstitial Lung DiseasesBernie Williams, former New York Yankee, discusses the…
FDA Approves Trofinetide to Treat Rett SyndromeThis the first and only drug approved for…
Treatment Testing for Myotonic Dystrophy Type 1 (DM1)Dr. Art Levin from Avidity Biosciences discusses preliminary…
What Is Myotonic Dystrophy Type 1 (DM1)?Dr. Art Levin from Avidity Biosciences gives an…
Enteric Hyperoxaluria ExplainedDr. Kyle Wood explains that enteric hyperoxaluria is…
Can a Probiotic Prevent Enteric Hyperoxaluria?Dr. Kyle Wood, from the University of Alabama…
Diagnosing Rett SyndromeLaura Mamounas PhD, Program Director at the National…
Gene Therapy In Children With MPS I Showing PromiseDr. Raymond Wang, at Children’s Hospital of Orange…
What is Fanconi Anemia?Ronald Martell, President, and CEO of Jasper Therapeutics…
Managing Rett SyndromeJana von Hehn, PhD, Chief Scientific Officer of…
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.
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.
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: 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).
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.
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.
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.
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).
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.
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.
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.
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.
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. .
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.
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.
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).
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
Newborn Screening: Talking to Parents
This module will focus on how to talk to parents about positive NBS results.