Diseases

Autoimmune/Auto-inflammatory Disorders

Disease overviews, clinically relevant perspectives, and news about the most important research in rare autoimmune and auto-inflammatory disorders.
Latest Content | E-mail Alert

Cancers

There are over 200 different types of rare cancers, but only a small number of people are diagnosed with each type. Many of those cancers are highlighted in this section.
Latest Content | E-mail Alert

Congenital and Genetic Conditions

Congenital disorders can be inherited or caused by environmental factors and can vary from mild to severe. This section is focused on genetic and congenital disorders in children and adolescents.
Latest Content | E-mail Alert

Endocrine Disorders

According to the NIH, there are more than 175 rare diseases that affect the endocrine system. In this section we highlight many of them and provide clinically relevant perspectives on these rare diseases.
Latest Content | E-mail Alert

Gastrointestinal Diseases

Expert insight and general news into relevant research on diseases of the gastrointestinal tract.
Latest Content | E-mail Alert

Heart Diseases

According to the CDC, approximately one in four deaths is a result of heart disease. Health care providers are trained to focus on the more prevalent heart diseases. This section is focused on rare and often neglected heart conditions.
Latest Content | E-mail Alert

Hematologic Disorders

Many of the more “common” blood diseases are considered “rare,” affecting less than 200,000 U.S. citizens. These conditions primarily affect the blood & blood-forming organs. In this section we provide news, research summaries, and meeting reports relevant to the hematologic community.
Latest Content | E-mail Alert

Kidney and Urinary Diseases

Diseases of the kidney and urinary affects over 30 million Americans and can lead to various related health problems, such as weak bones, nerve damage, and malnutrition. In this section we provide news and updates focused on rare kidney and urinary diseases.
Latest Content | E-mail Alert

Lung Diseases

Learn about the symptoms, causes, management and available treatments of rare lung disorders. Perspectives on the latest clinically relevant research, guideline updates, and new drug approvals.
Latest Content | E-mail Alert

Lysosomal Storage Disorders

Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies. We provide interviews with leading experts, general news and clinical trial updates.
Latest Content | E-mail Alert

Metabolic Disorders 

News, Interviews, and expert insight into the latest research relevant to rare metabolic diseases.
Latest Content | E-mail Alert

Musculoskeletal Diseases

A wide range of rare conditions involve the musculoskeletal system. Some of these disorders arise from genetic problems in the muscles themselves, while others involve the nerves or bones.
Latest Content | E-mail Alert

Neurology / Nervous System Diseases

Rare neurological disorders are diseases of the brain, spine, and autonomic nervous system. This section provides overviews of several of those conditions, as well news, clinical trial updates, and expert opinions form leading neurologists.
Latest Content | E-mail Alert

Ophthalmology/Eye Diseases

Disease overviews and news and key expert videos focused on rare eye disorders.
Latest Content | E-mail Alert

Skin Conditions

Disease overviews, clinically relevant perspectives, and news on the most important research in rare skin disorders.
Latest Content | E-mail Alert

Policies

Information

Get Help

Topics

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.

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.

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.

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.

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).

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.

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.

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.

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.

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.

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.

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.

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 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. 

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.

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.

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: 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.

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.

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.

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.

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.

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.

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).

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.

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.

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.

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 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. 

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.

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.

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).

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.

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.

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: 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.

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 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: 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.

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.

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.

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.

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.

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.

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.

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.