Skin Conditions

Apr 22, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Drug Development, Skin Conditions

What Is Dystrophic Epidermolysis Bullosa?

Juan Roman, Vice President at Krystal Biotech, gives…
Apr 18, 2022| Posted in: Congenital And Genetic Conditions, Diagnosis, Musculoskeletal Diseases, Skin Conditions

What Is CLOVES Syndrome?

Lindsay, a patient with CLOVES syndrome, gives an…
Apr 13, 2022| Posted in: Congenital And Genetic Conditions, Drug Development, Skin Conditions

Gene Therapy and Dystrophic Epidermolysis Bullosa

Juan Roman, of Krystal Biotech, provides an overview…

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.

Acromegaly Highlights from ENDO 2021

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

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).

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.

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.

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.

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.

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).

Skin Conditions

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