Autoimmune and Auto-inflammatory Disorders

Disease overviews, clinically relevant perspectives, and news about important research in rare autoimmune and auto-inflammatory disorders.
Jan 17, 2025| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Hematologic Disorders, Treatment

Patient Sentiments Regarding Treatment Options for wAIHA

Nora Sandorfi, MD, Professor of Clinical Medicine, Rheumatology…
Dec 20, 2024| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Diagnosis, Gastrointestinal Diseases

Symptom Burden of Primary Biliary Cholangitis

Carol Roberts, President, The PBCers Organization, discusses the…

Recent Videos

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.

 

FcRn and Myasthenia Gravis

This half-hour CME-accredited program, hosted by Richard J. Nowak, MD, MS, explains the role of neonatal fragment crystallizable receptor (FcRn) in myasthenia gravis (MG) and how treatments that target FcRn are being used to manage patients with MG.

Myasthenia Gravis Research Highlights: AAN 2024

This CME activity, hosted by Nicholas Silvestri, MD, of the University of Buffalo, provides an overview of the latest clinical research presented at AAN 2024 focused on myasthenia gravis.

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.

Autoimmune and Auto-inflammatory Disorders

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Carsten Utoft Niemann, MD, PhD, Copenhagen University Hospital, discusses results from the GLOW clinical trial in chronic lymphocytic leukemia (CLL).

https://checkrare.com/results-from-the-glow-clinical-trial-in-chronic-lymphocytic-leukemia/

#CheckRare #RareDisease #RareCancer

📢CME Program: Jean Elwing, MD, of the University of Cincinnati College of Medicine provides an overview of the latest clinical research about PAH presented at CHEST 2024.

https://checkrare.com/learning/p-pah-clinical-research-highlights-chest-2024/

#CheckRare #RareDisease ...#RareLung #CMEProgram

FDA Approval: The U.S. Food and Drug Administration has approved Gomekli (mirdametinib) for the treatment of adult and pediatric patients with neurofibromatosis type 1-associated plexiform neurofibromas.

https://checkrare.com/fda-approves-mirdametinib-for-treatment-of-nf1-pn/

...#CheckRare #FDAApproval #RareGenetic

💡Rare Disease Spotlight: Polycythemia Vera

Learn more about this rare disease at https://checkrare.com/?s=polycythemia+vera

#CheckRare #RareDisease #PolycythemiaVera #RareHematology

Clinical research leaders in HAE 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.

...https://checkrare.com/improving-health-equity-in-hereditary-angioedema-hae-a-panel-discussion/

#CheckRare #RareDisease #RareGenetic

📹 The CheckRare team spent the week at #WORLDSymposia 2025

Stay tuned for our interviews from the conference!

#CheckRare #RareDisease

Paula Ragan, President and Chief Executive Officer of X4 Pharmaceuticals, discusses the pathway of approval under the European Medicines Agency (EMA) for mavorixafor for patients with WHIM syndrome.

...https://checkrare.com/ema-pathway-to-approval-for-mavorixafor-to-treat-patients-with-whim-syndrome/

#CheckRare #RareDisease #WHIMSyndrome #RareGenetic #RareSkin

Emma Searle, PhD, The Christie NHS Foundation Trust and University of Manchester, discusses bleximenib in combination with chemotherapy to treat patients with acute myeloid leukemia (AML).

https://checkrare.com/chemotherapy-combination-treatment-in-patients-with-acute-myeloid-leukemia/
...
#CheckRare #RareDisease #AML #RareCancer

February 4th is #WorldCancerDay

Although there are over 200 types of rare cancers, only a small number of people are diagnosed with each type. These conditions often present unique challenges in diagnosis, research, and treatment. Today we raise awareness, support research, and advocate ...for better resources.🎗️

To learn more about rare cancers, visit https://checkrare.com/diseases/cancers/

#CheckRare #RareDisease #RareCancer

Jean Donadieu, MD, Service d’Hémato-Oncologie Pédiatrique, Hopital, Paris, provides an overview of WHIM syndrome.

https://checkrare.com/whim-syndrome-overview-diagnosis-and-magement/

#CheckRare #RareDisease #RareGenetic #RareSkin #WHIM

Join Professors João Gonçalves and Paolo Calicaeti in this educational webinar discussing how PEGylation represents a major technological advancement in the development and optimization of therapeutic proteins.

...https://checkrare.com/optimizing-therapeutic-proteins-through-pegylation/

#CheckRare #RareDisease #lysosomal #RareLysosomal

Marina Kremyanskaya, MD, PhD, Icahn School of Medicine at Mount Sinai, discusses the development of gene silencer divesiran for treatment of polycythemia vera (PV).

https://checkrare.com/development-of-gene-silencer-for-treatment-of-polycythemia-vera/

📣 Stay up to date on the most recent FDA approvals and PDUFA dates in the rare disease space with our 2025 Orphan Drugs webpage!

https://checkrare.com/2025-orphan-drugs-pdufa-dates-and-fda-approvals/

#CheckRare #RareDiseases #PDUFADates #FDAApproval

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

#CheckRare #CME

This CME program, hosted by Richard J. Nowak, MD, MS, explains the role of neonatal fragment crystallizable receptor (FcRn) in myasthenia gravis (MG) and how treatments that target FcRn are being used to manage patients with MG.

#CheckRare #CME #MyastheniaGravis

This CME program, developed by Howard Trachtman, MD, and Carla M. Nester, MD, addresses the complexities involved in diagnosing, treating, and managing patients with various complement-mediated kidney disorders, such as C3 glomerulopathy and atypical hemolytic uremic syndrome (aHUS).

...#CheckRare #CME #RareDisease #KidneyDisorders