Latest Summaries

Jun 10, 2021| Autoimmune / Autoinflammatory Disorders, Diagnosis, Treatment

Chronic Inflammatory Demyelinating Polyneuropathy

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neurological…
Jun 9, 2021| Advocacy, Congenital And Genetic Conditions, News

Newborn Screening Bootcamp

Dylan Simon, Newborn Screening and Diagnostics Policy Manager…
Jun 7, 2021| Autoimmune / Autoinflammatory Disorders, Diagnosis, Treatment

Guillain-Barré Syndrome

Guillain-Barré syndrome (GBS) is a rare syndrome in…
Jun 4, 2021| Advocacy

Study Suggests Stigma is Uniquely Felt by Rare Disease Patients

Marla Munro, PhD student in Counseling Psychology at…
Jun 3, 2021| Advocacy, News

Don’t Miss NORD’s Living Rare, Living Stronger Patient and Family Forum

Rebecca Aune, Director of Education Programs for the…
Jun 1, 2021| Autoimmune / Autoinflammatory Disorders, Musculoskeletal Diseases, Neurology/Nervous System Diseases

Myasthenia Gravis

Myasthenia gravis is a chronic autoimmune neuromuscular disease…
Jun 1, 2021| Advocacy, Congenital And Genetic Conditions, Regulations

The Everylife Foundation’s Goals for Newborn Screening

Julia Jenkins, Executive Director at Everylife Foundation, describes…
May 28, 2021| Cancers, News, Treatment

FDA Approves Oral Therapy for Advanced Cholangiocarcinoma

The U.S. Food and Drug Administration (FDA) has…
May 28, 2021| Advocacy

Mental Health Challenges in Rare Disease Patients: How Physicians and Policy Makers Can Help

Kathleen Bogart, PhD, Associate Professor of Psychology at…
May 26, 2021| Autoimmune / Autoinflammatory Disorders, Musculoskeletal Diseases

Antisynthetase Syndrome

Antisynthetase syndrome is a chronic autoimmune disease that…
May 26, 2021| Congenital And Genetic Conditions, News, Regulations

Encouraging RUSP Alignment Across States for Newborn Screening

Julia Jenkins, Executive Director at Everylife Foundation, and…

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.

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).

Fabry Disease Research Highlights

This CME activity highlights the latest information about Fabry disease from WORLDSymposium 2021.

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.

Mucopolysaccharidosis I CME Program

Paul Orchard, MD from the University of Minnesota Medical School provides an overview of Mucopolysaccharidosis I in these CME and CNE courses. Dr. Orchard discusses the importance of newborn screening and genetic counseling, and the challenges of diagnosing and treating patients with MPS I.

Gaucher Disease Research Highlights

This CME activity highlights the latest information about Gaucher disease and provides expert analysis of its clinical relevance.

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.

Niemann–Pick Disease Type C Learning Center

Niemann-Pick disease type C (NPC) is a disabling, lysosomal storage disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood.

Angelman Syndrome Learning Center

Angelman syndrome is a rare genetic disorder affecting roughly 500,000 people worldwide. Patients with Angelman syndrome generally experience developmental delays, intellectual disabilities, extensive speech impairment, issues with movement and balance, epilepsy, and abnormal sleep-wake.

CME Program: Pulmonary Arterial Hypertension (PAH) Highlights

Richard N Channick, MD highlightsnew information and data regarding pulmonary arterial hypertension (PAH) to assist in the diagnosis and management of patients with this rare disease.

CME Program: Eye on Neuromyelitis Optica Spectrum Disorder

Michael Levy, MD, PhD and Prem Subramanian, MD, PhD highlight the important role ophthalmologists and neurologists play in diagnosing and treating NMOSD most efficiently.

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 Program on Tumor-induced Osteomalacia (TIO): Diagnosis and Management

Peter Tebben, MD discusses tumor-induced osteomalacia (TIO), a rare paraneoplastic condition commonly characterized by bone pain, muscle weakness and fractures. 

Hereditary Angioedema Research Highlights: CME Program

Timothy Craig, FAAAAI, FACP, FACOI from Penn State University highlights the latest information about HAE and provides expert analysis of its clinical relevance for busy members of the care team in order to help them care for patients with this rare disease.

CME Program: Narcolepsy Research Highlights

Maurice Ohayon, MD, PhD from Stanford University provides highlights of the latest information about narcolepsy along with expert analysis of its potential clinical relevance for busy members of the care team in order to help them care for patients with this rare disease.

Neuroendocrine Tumors (NETs) Research Highlights: CME Program

Edward M Wolin, MD from the Tisch Cancer Institute at Mount Sinai and Icahn School of Medicine at Mount Sinai, highlights the latest information about NETs and provides expert analysis of its clinical relevance for busy members of the care team in order to help them care for patients with these rare diseases.

Disease Categories

Topics

Niemann–Pick Disease Type C Learning Center

Niemann-Pick disease type C (NPC) is a disabling, lysosomal storage disorder that has been diagnosed prenatally, neonatally, during childhood, and even into adulthood.

CME Program on Tumor-induced Osteomalacia (TIO): Diagnosis and Management

Peter Tebben, MD discusses tumor-induced osteomalacia (TIO), a rare paraneoplastic condition commonly characterized by bone pain, muscle weakness and fractures. 

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).

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.

Neuroendocrine Tumors (NETs) Research Highlights: CME Program

Edward M Wolin, MD from the Tisch Cancer Institute at Mount Sinai and Icahn School of Medicine at Mount Sinai, highlights the latest information about NETs and provides expert analysis of its clinical relevance for busy members of the care team in order to help them care for patients with these rare diseases.

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.

Gaucher Disease Research Highlights

This CME activity highlights the latest information about Gaucher disease and provides expert analysis of its clinical relevance.

Mucopolysaccharidosis I CME Program

Paul Orchard, MD from the University of Minnesota Medical School provides an overview of Mucopolysaccharidosis I in these CME and CNE courses. Dr. Orchard discusses the importance of newborn screening and genetic counseling, and the challenges of diagnosing and treating patients with MPS I.

Fabry Disease Research Highlights

This CME activity highlights the latest information about Fabry disease from WORLDSymposium 2021.

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.

CME Program: Pulmonary Arterial Hypertension (PAH) Highlights

Richard N Channick, MD highlightsnew information and data regarding pulmonary arterial hypertension (PAH) to assist in the diagnosis and management of patients with this rare disease.

CME Program: Eye on Neuromyelitis Optica Spectrum Disorder

Michael Levy, MD, PhD and Prem Subramanian, MD, PhD highlight the important role ophthalmologists and neurologists play in diagnosing and treating NMOSD most efficiently.

Angelman Syndrome Learning Center

Angelman syndrome is a rare genetic disorder affecting roughly 500,000 people worldwide. Patients with Angelman syndrome generally experience developmental delays, intellectual disabilities, extensive speech impairment, issues with movement and balance, epilepsy, and abnormal sleep-wake.

Hereditary Angioedema Research Highlights: CME Program

Timothy Craig, FAAAAI, FACP, FACOI from Penn State University highlights the latest information about HAE and provides expert analysis of its clinical relevance for busy members of the care team in order to help them care for patients with this rare disease.

CME Program: Narcolepsy Research Highlights

Maurice Ohayon, MD, PhD from Stanford University provides highlights of the latest information about narcolepsy along with expert analysis of its potential clinical relevance for busy members of the care team in order to help them care for patients with this rare disease.

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.