Diseases

Autoimmune/Auto-inflammatory Disorders

Disease overviews, clinically relevant perspectives, and news about the most important research in rare autoimmune and auto-inflammatory disorders.
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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.
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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.
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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.
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Gastrointestinal Diseases

Expert insight and general news into relevant research on diseases of the gastrointestinal tract.
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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.
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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.
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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.
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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.
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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.
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Metabolic Disorders 

News, Interviews, and expert insight into the latest research relevant to rare metabolic diseases.
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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.
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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.
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Ophthalmology/Eye Diseases

Disease overviews and news and key expert videos focused on rare eye disorders.
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Skin Conditions

Disease overviews, clinically relevant perspectives, and news on the most important research in rare skin disorders.
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Topics

Drug Compounding: What Physicians and Patients Need to Know

Drug compounding is often regarded as the process of combining, mixing, or altering ingredients to create a medication tailored to the needs of an individual patient. This can be especially relevant for rare disease patients. For more information on drug compounding including FDA resources, visit the CheckRare Drug Compounding Resource page.

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.

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.

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).

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.

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.

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.

Gaucher Disease Research Highlights

Derralynn Hughes, MD discusses Gaucher disease data presented at American Society of Hematology Annual Meeting (ASH 2020).

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.

Acromegaly Highlights from ENDO 2021

Maria Fleseriu, MD, FACE highlights the latest research about Acromegaly that was presented at ENDO 2021.

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.

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.

Drug Compounding: What Physicians and Patients Need to Know

Drug compounding is often regarded as the process of combining, mixing, or altering ingredients to create a medication tailored to the needs of an individual patient. This can be especially relevant for rare disease patients. For more information on drug compounding including FDA resources, visit the CheckRare Drug Compounding Resource page.

Gaucher Disease Research Highlights

Derralynn Hughes, MD discusses Gaucher disease data presented at American Society of Hematology Annual Meeting (ASH 2020).

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.

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).

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.

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.

Acromegaly Highlights from ENDO 2021

Maria Fleseriu, MD, FACE highlights the latest research about Acromegaly that was presented at ENDO 2021.