Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with an incidence of 1 in 3,000–5,000.

Kakkar opened the symposium by highlighting the burden of thrombotic disease in patients with cancer with a discussion of data from the Global Anticoagulant Registry in the FIELD – Venous Thromboembolism (GARFIELD-VTE) registry.

Despite therapeutic advances, the prognosis of non-small cell lung cancers (NSCLC) is still very poor, especially when first diagnosed at later stages involving metastases. NSCLC classification can be aided by identifying genetic, molecular, and histological subtypes that are important biomarkers in treatment selection. The majority of targeted therapies are now first-line treatment options for eligible patients with advanced stages of NSCLC.

AT the 11th European Conference on Rare Diseases (ECRD), held virtually between 27th June and 1st July as an official event of the 2022 French Presidency of the Council of the European Union (EU), experts discussed how invisibility in rare disease acts as a roadblock to reducing inequalities.

Chronic kidney disease (CKD) is a progressive condition that can lead to kidney failure and the requirement for renal dialysis or transplantation. Early-stage CKD is often missed because the disorder is initially asymptomatic; hence, many patients with CKD already have symptomatic advanced disease (Stages G4–G5) at the time of diagnosis. This is an important issue because the drugs available for the treatment of CKD are most effective when given during the early stages of the disease (Stages G1–G3).

Patients can present with chief complaints and symptoms that differ from the eventual diagnoses. The differences between aetiologies versus complications must be appreciated through careful evaluation and use of clinical investigations, laboratory testing, trial of hypotheses, and clinical gestalt.

Yann Le Cam Chief | Executive Officer, EURORDIS-Rare Diseases Europe. The conference happens every 2 years and the purpose is to formulate strategies at a national, international, and European level. The conference also provides an opportunity to look at legislative and non-legislative policies and learn about the latest research. The scope is broad, covering the entire spectrum of rare diseases.

Neratinib was developed as an irreversible catalytic inhibitor of ERBB2, which also acts to inhibit ERBB1 and ERBB4. Neratinib is U.S. Food and Drug Administration (FDA)-approved as a neo-adjuvant therapy for use in HER2+ breast cancer.