Congenital and Genetic Conditions

Congenital and genetic conditions 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.
Jan 31, 2025| Posted in: Advocacy, Congenital And Genetic Conditions, Heart Diseases

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

This panel discussion by three clinical research leaders…
Jan 29, 2025| Posted in: Cancers, Congenital And Genetic Conditions, Diagnosis, Skin Conditions, Treatment

WHIM Syndrome: Overview, Diagnosis, and Management

Jean Donadieu, MD Service d'Hémato-Oncologie Pédiatrique, Hopital, Paris,…

Recent Videos

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.

Cushing’s Syndrome Treatment Research Highlights: ENDO 2024

Cushing’s syndrome is rare endocrine disorder characterized by chronic hypercortisolism. It is often due to a pituitary adenoma producing excessive ACTH leading to hypercortisolism. Symptoms can range from mild to extensive.

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.

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).[1-5]

Rates of Severe Neutropenia and Infection Risk in Patients Treated With Deferiprone: 28 Years of Data

Dr. Sujit Sheth, Chief of the Division of Pediatric Hematology/Oncology at Weill Cornell Medicine and an attending pediatrician at New York Presbyterian Hospital, in New York City discusses his recently published work in Blood Advances titled “Rates of severe neutropenia and infection risk in patients treated with deferiprone: 28 years of data.”

Overview of Epigenetics and Epigenomics in Lysosomal 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.

Restless Legs Syndrome Treatment and Guidelines Update

Dr. Mark J. Buchfuhrer discusses clinical practice guidelines update suggesting against the standard use of dopamine agonists for the treatment of restless legs syndrome (RLS).

Optimizing the Efficacy and Safety of Therapy for Fabry Disease

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body’s cells, called globotriaosylceramide or GL-3. The disorder affects many parts of the body.

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.

Congenital and Genetic Conditions

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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/