Latest Summaries

Oct 26, 2021| Cancers, Drug Development

The Role of p53 and MDM2 in Cancer Growth

Avanish Vellanki, CEO at Rain Therapeutics, discusses the…
Oct 21, 2021| Advocacy, Cancers, Musculoskeletal Diseases

Tenosynovial Giant Cell Tumors: Overview and Treatment Options

Sydney Stern, tenosynovial giant cell tumor (TGCT) patient,…
Oct 20, 2021| Endocrine Disorders, Gastrointestinal Diseases, Hematologic Disorders, Regulations, Treatment

Compounded Medications and Insurance Coverage

Salvatore Dileo, RPh, Director of Pharmacy, Westmed Medical…
Oct 20, 2021| Cancers, Drug Development, Treatment

Nirogacestat Being Evaluated for Desmoid Tumors in Adults and Children

Dr. James Cassidy, Chief Medical Officer at SpringWorks…
Oct 13, 2021| Cancers, Drug Development, News, Treatment

Milademetan Shows Promise as Treatment for Multiple Cancer Types

Avanish Vellanki, CEO at Rain Therapeutics, discusses the…
Oct 12, 2021| Lung Diseases, Musculoskeletal Diseases

Overview of Juvenile Idiopathic Arthritis (JIA)

Daniel Lovell, MD, MPH, Associate Director of the…
Oct 12, 2021| News, Regulations

Adverse Events and Compounded Drugs

Julie Dohm discusses some of the adverse events…
Oct 8, 2021| Diagnosis, Neurology/Nervous System Diseases

Diagnosing Narcolepsy Can Sometimes Take Years

Jennifer Gudeman, PharmD at Avadel Pharmaceuticals, describes how…

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.

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.

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).

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.

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.

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.

Gaucher Disease Research Highlights

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

Acromegaly Highlights from ENDO 2021

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

Disease Categories

Topics

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).

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.

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.

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.

Acromegaly Highlights from ENDO 2021

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

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.

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).

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.

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.

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.