Latest Summaries

May 10, 2021| Advocacy, Congenital And Genetic Conditions, Neurology/Nervous System Diseases

May is Huntington Disease Awareness Month

Initiated by the Huntington Society of Canada, Huntington…
May 7, 2021| Advocacy, Treatment

The n-Lorem Foundation Provides Treatment for Patients with Ultra-Rare Diseases

Stanley Crooke, MD, PhD, Founder, Chairman, and Chief…
Apr 29, 2021| Diagnosis, Kidney And Urinary Diseases

Overview of Hepatorenal Syndrome

Florence Wong, MD, Professor of Medicine at the…
Apr 28, 2021| Hematologic Disorders, Treatment

Jehovah’s Witnesses and Plasma Exchange Alternatives

Shruti Chaturvedi, MBBS, MS, Assistant Professor of Medicine…
Apr 27, 2021| Congenital And Genetic Conditions, Kidney And Urinary Diseases

What is Focal Segmental Glomerulosclerosis

Howard Trachtman, MD, Pediatric Nephrologist at NYU Langone…
Apr 22, 2021| Cancers, Diagnosis, Endocrine Disorders, Metabolic Disorders

Acromegaly and the Dentist

Susan Samson, MD, PhD, of the Mayo Clinic…
Apr 21, 2021| Drug Development, Treatment

Rare Disease Clinical Trials: Study Designs and Common Concerns

Miganush Stepanians,  PhD, President and CEO of PROMETRIKA,…
Apr 20, 2021| Cancers, Drug Development

Two Strategies for Developing Rare Cancer Clinical Trials

Roman Grosiberg, MD, Medical Oncologist and Director of…

CME Program: Pulmonary Arterial Hypertension (PAH) Highlights

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

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.

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: 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.

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.

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.

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).

TTR Amyloidosis CME Program

Morie A Gertz, MD, MACP provides an overview of TTR Amyloidosis – including how to shorten individuals’ diagnostic journey and the time till they access treatment which might improve their quality of life or even prevent disease progression.

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. 

CME Program: Gaucher Disease Highlights from WORLDSymposium 2020

Neal Weinreb, MD, FACP highlights the latest information about Gaucher disease from WORLDSymposium and provides expert analysis of its clinical relevance to help health care providers better care for patients with this rare disease.

CME Program: Mucopolysaccharidoses (MPSs) Highlights from WORLDSymposium 2020

Barbara K. Burton, MD highlights the latest information about MPSs from WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with these rare diseases.

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.

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.

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.

CME Program: Fabry Disease Highlights from WORLDSymposium 2020

Ozlem Goker-Alpan, MD highlights the latest Fabry disease information from the WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with this rare disease.

Spinal Muscular Atrophy CME Program

Nancy L. Kuntz, MD, FAAN discusses diagnosing and managing people with spinal muscular atrophy through these brief courses that are certified for CME and CNEcredit.

NMOSD Research Highlights: CME Program

Michael Levy, MD, PhD, Associate Professor, Harvard Medical School, provides highlights of the latest information about NMOSD, along with expert analysis of its potential clinical relevance for 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.

Disease Categories

Topics

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.

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.

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.

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: Pulmonary Arterial Hypertension (PAH) Highlights

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

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.

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.

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).

TTR Amyloidosis CME Program

Morie A Gertz, MD, MACP provides an overview of TTR Amyloidosis – including how to shorten individuals’ diagnostic journey and the time till they access treatment which might improve their quality of life or even prevent disease progression.

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. 

CME Program: Gaucher Disease Highlights from WORLDSymposium 2020

Neal Weinreb, MD, FACP highlights the latest information about Gaucher disease from WORLDSymposium and provides expert analysis of its clinical relevance to help health care providers better care for patients with this rare disease.

CME Program: Mucopolysaccharidoses (MPSs) Highlights from WORLDSymposium 2020

Barbara K. Burton, MD highlights the latest information about MPSs from WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with these rare diseases.

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.

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.

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.

CME Program: Fabry Disease Highlights from WORLDSymposium 2020

Ozlem Goker-Alpan, MD highlights the latest Fabry disease information from the WORLDSymposium and provides expert analysis of its clinical relevance for members of the care team in order to help them care for patients with this rare disease.

Spinal Muscular Atrophy CME Program

Nancy L. Kuntz, MD, FAAN discusses diagnosing and managing people with spinal muscular atrophy through these brief courses that are certified for CME and CNEcredit.

NMOSD Research Highlights: CME Program

Michael Levy, MD, PhD, Associate Professor, Harvard Medical School, provides highlights of the latest information about NMOSD, along with expert analysis of its potential clinical relevance for 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.