Latest Summaries

Jul 8, 2025| Cancers, Hematologic Disorders, Regulations, Treatment

FDA Approves Linvoseltamab for Treatment of Multiple Myeloma

The U.S. Food and Drug Administration (FDA) has…
Jul 2, 2025| Cancers, Drug Development, Hematologic Disorders

Results from the VERIFY Clinical Trial in Polycythemia Vera

Andrew T. Kuykendall, MD, Associate Member in the…
Jul 1, 2025| Cancers, Drug Development, Hematologic Disorders

Results From the CEPHEUS Clinical Trial in Multiple Myeloma

Saad Usmani, MD, Myeloma Specialist and Cellular Therapist…
Jun 26, 2025| Cancers, Diagnosis, Skin Conditions, Treatment

Cutaneous T-Cell Lymphoma: Overview, Management, and Quality-of-Life

Neha Mehta-Shah, MD, Medical Oncologist at Washington University…

Consider Rare: Suspecting and Diagnosing Fibrodysplasia Ossificans Progressiva

Dr Ellen Elias and Dr Christian Scott discuss Fibrodysplasia ossificans progressiva, an ultra-rare genetic disorder characterized by abnormal bone development.

Neuroblastoma: Overview, Curie Scores, and Treatment Options

Greg Yanik, MD, provides an overview of this rare childhood cancer, goals of therapy, using the Curie score, and immunotherapy treatments.

Consider Rare: Suspecting and Diagnosing Hereditary Angioedema

Dr Jonathan A Bernstein discusses Hereditary Angioedema, a rare condition often due to reduced levels C1-inhibitor, which is a protein involved in various physiological processes in plasma, most notably with the complement system.

Progressive Familial Intrahepatic Cholestasis (PFIC): Diagnosing, Treating, Monitoring

This educational program, hosted by Patrick McKiernan and Nadia Ovchinsky, discusses the recently published guidance on best practices to diagnose, treat, and monitor patients with progressive familial intrahepatic cholestasis.

Optimizing Therapeutic Proteins Through PEGylation: Key Parameters and Impacts

The session will delve into the process of PEGylation, where polyethylene glycol (PEG) is conjugated to functional amino acid groups on the protein surface. This modification may enhance the properties of therapeutic proteins, offering advantages in stability, half-life, and immunogenicity.

Rett Syndrome

Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome.

Fabry Disease Research Highlights

Fabry disease, an inherited lysosomal storage disease caused by mutations in the GLA gene.

Hematologic Malignancies and Clinical Trial Participation: A Shared Decision-Making Approach

This 30-minute, CME-accredited program, hosted by John Kuruvilla, MD, explores best practices for discussing possible clinical trial participation with patients who have hematologic malignancies.

Improving Health Equity in Hereditary Angioedema (HAE): A Panel Discussion

This panel discussion by three clinical research leaders in HAE, Drs. Aleena Banerji, Timothy Craig, and Marc Riedl, provide an overview of the discrepancies in care observed in certain patient populations, as well as a discussion on best practices to reduce those inequalities moving forward.

PAH Clinical Research Highlights: CHEST 2024

Dr Jean Elwing discusses Pulmonary Arterial Hypertensions (PAH), a rare disorder characterized by high blood pressure in the pulmonary arteries. Symptoms of PAH include shortness of breath (dyspnea) especially during exercise, chest pain, and fainting episodes.

Learn About WHIM Syndrome

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with neutropenia that typically presents in childhood or adolescence, predominantly caused by pathogenic variants in the CXCR4 chemokine receptor gene.

 

Neuroblastoma

Neuroblastoma is a rare childhood cancer, but it is the most common extracranial solid tumor in children. It is a neuroendocrine tumor that originates in neuroblasts or neural crest progenitor cells.

Epigenetic and Epigenomics Signature in Lysosomal Disorders Pathology

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.

Transforming Clinical Outcomes with Early Treatment of Lysosomal Disorders

This CME program examines the evidence available to address how to monitor, and possibly treat, children with lysosomal diseases that were diagnosed by newborn screening or soon after birth.

Epigenetic Modifiers as Therapeutic Targets

Gaucher disease (GD) is a genetic disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase, which acts on glucocerebroside.

Understanding the Global Differences in Lysosomal Disorders for Patient Care

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.

Cutaneous T-Cell Lymphoma

Cutaneous T-cell lymphoma belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders. Cutaneous T-cell lymphoma is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people.

Overview of Epigenetics and Epigenomics in Lysosomal Disorders

Nahid Tayebi, PhD, Andrew Lieberman, MD, PhD, Andrés D. Klein, PhD, and David Smerkous, AI PhD discuss Lysosomal storage diseases, a rare inherited metabolic disease that is characterized by an abnormal build-up of various toxic materials in the body’s cells.

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Yuliya Linhares, MD, chief of Lymphoma Services at Miami Cancer Institute, provides an overview of cutaneous T-cell lymphoma #CTCL and discusses some strategies for shortening the diagnostic journey of this rare cancer. #CheckRare #RareDisease
...https://checkrare.com/ctcl-shortening-the-diagnostic-journey-and-starting-treatment-early/

Larisa Geskin, MD, Columbia University Medical Center, discusses the challenges of diagnosing cutaneous T-cell lymphoma.
#CheckRare #RareDisease #CTCL
https://checkrare.com/ctcl-the-role-of-dermatologists-in-diagnosing-and-caring-for-patients/

Gideon Hirschfield, MD, of the Toronto General Hospital and Toronto Centre for Liver Disease, discusses results from the phase 3 GLISTEN trial in patients with PBC.

https://checkrare.com/phase-3-glisten-trial-in-patients-with-primary-biliary-cholangitis/

#CheckRare #RareDisease ...#PBC #RareAutoimmune #RareGastrointestinal

Learn more about chronic myeloid leukemia (CML) and the current treatment landscape at
https://checkrare.com/chronic-myeloid-leukemia-overview-treatment-options-and-advice/

#CheckRare #RareDisease #CML #RareCancer #RareHematology

💡Rare Disease Spotlight: CIDP

Learn more about this rare disease with our latest article https://checkrare.com/riliprubart-for-the-treatment-of-cidp/

#CheckRare #RareDisease #CIDP #RareAutoimmune #RareNeurology