Diseases

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.

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.

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.

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.

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).

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.

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.

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.

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.

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

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

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.

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.

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

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.

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.

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.

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

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.

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

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.

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.

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.

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) 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).

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.

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.

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.

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.

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

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.

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.

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

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

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.

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.

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.

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

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

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.

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.

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.

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.

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.

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.

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.

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.

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.