Recent genome-wide analyses of rare and common sequence variations have brought greater clarity to the genetic architecture of pulmonary arterial hypertension and implicated novel genes in disease development. Transcriptional signatures have been reported in whole lung tissue, pulmonary vascular cells and peripheral circulating cells. High-throughput platforms for plasma proteomics and metabolomics have identified novel biomarkers associated with clinical outcomes and provided molecular instruments for risk assessment. There are methodological challenges to integrating these datasets, coupled to statistical power limitations inherent to the study of a rare disease, but the expectation is that this approach will reveal novel druggable targets and biomarkers that will open the way to personalized medicine. Here, we review the current state-of-the-art and future promise of ‘omics’ in the field of translational medicine in pulmonary arterial hypertension. For more information click here.
Erdheim-Chester disease (ECD) is a rare histiocytosis that was recently recognized as a neoplastic disorder owing to the discovery of recurrent activating MAP-kinase (RAS-RAF-MEK-ERK) pathway mutations. Typical findings of ECD include central diabetes insipidus, restrictive pericarditis, perinephric fibrosis, and sclerotic bone lesions. The histopathologic diagnosis of ECD is often challenging due to non-specific inflammatory and fibrotic findings on histopathologic review of tissue specimens. Additionally, the association of ECD with unusual tissue tropism and an insidious onset often results in diagnostic errors and delays. Most patients with ECD require treatment, except for a minority of patients with minimally symptomatic single-organ disease. The first ECD consensus guidelines were published in 2014 on behalf of the physicians and researchers within the Erdheim-Chester Disease Global Alliance. With the recent molecular discoveries and the approval of the first targeted therapy (vemurafenib) for BRAF-V600-mutant ECD, there is a need for updated clinical practice guidelines to optimize the diagnosis and treatment of this disease. This document presents consensus recommendations that resulted from the International Medical Symposia on ECD in 2017 and 2019. For more information click here.
Niemann-Pick type C (NPC) disease is an autosomal recessive lysosomal storage disorder caused by mutations in NPC1 or NPC2 genes. In 2009, the molecular characterization of 44 NPC Italian patients has been published. Here, we present an update of the genetic findings in 105 Italian NPC patients belonging to 83 unrelated families (77 NPC1 and 6 NPC2). NPC1 and NPC2 genes were studied following an algorithm recently published. Eighty-four different NPC1 and five NPC2 alleles were identified. Only two NPC1 alleles remained non detected. Sixty-two percent of NPC1 alleles were due to missense variants. The most frequent NPC1 mutation was the p.F284Lfs*26 (5.8% of the alleles). All NPC2 mutations were found in the homozygous state, and all but one was severe. Among newly diagnosed patients, 18 novel NPC1 mutations were identified. For more information click here.
In the context of COVID-19 pandemic and launching of the ‘COVID-19 Clinical Management Support System’, DG SANTE is organising a series of webinars to support clinicians and other healthcare professionals at the frontline who treat the patients with COVID-19. We would like to invite you and any other colleague or healthcare professional of your hospital that might be interested, to the 6th Webinar: “COVID-19: Endocrine conditions with increased risk” that will take place on Tuesday 12 May, from 18:00 to 19:00. It will feature Prof. Alberto Pereira, Prof. Elco de Koning and Prof. Wiebke Arlt. For more information click here.
The collection of presentations and posters from the 10th National Conference for Rare Diseases and Orphan Drugs has been published. You can find the collection attached as a supplement in the journal Rare Diseases and Orphan Drugs and in it you will see the presentations of all speakers, as well as materials from the poster sessions. Follow the link to access the collection.
In the context of COVID-19 pandemic and launching of the ‘COVID-19 Clinical Management Support System’, DG SANTE is organising a series of webinars to support clinicians and other healthcare professionals at the frontline who treat the patients with COVID-19. We would like to invite you and any other colleague or healthcare professional of your hospital that might be interested, to the 4th Webinar: “COVID-19 in patients with rare diseases of the respiratory system” that will take place on Thursday 30 April, from 17:00 to 18:30. It will feature Thomas Wagner, Isabel Fajak, Michael Kreuther and more. For more information click here.
In the context of COVID-19 pandemic and launching of the ‘COVID-19 Clinical Management Support System’, DG SANTE is organising a series of webinars to support clinicians and other healthcare professionals at the frontline who treat the patients with COVID-19. We would like to invite you and any other colleague or healthcare professional of your hospital that might be interested, to the 3rd Webinar: ‘COVID-19 and anti-epileptic drugs’ that will take place on Monday 27 April, from 17:00 to 18:30. It will chaired by some of the finest experts in epilepsy in the EU – Prof Alexis Arzimanoglou, Prof. Emilio Perucca, Prof. Cecilie Landmark and Prof. Eugen Trinka. For more information click here.
This year, once again, we celebrate April 17 – World Hemophilia Day. Days before Easter, the campaign is already actively running online in the form of sharing helpful infographics and videos under the motto “Get involved too!”. A number of public figures have already recorded videos at home, sharing important information about the disease and about the patients with hemophilia. They call upon others like them to join as participants for the campaign. Each of us is invited to become involved in the distribution of information about the disease, the needs and the problems of the patients, as well as to record a short video to encourage society to be tolerant and cohesive, especially in these difficult times of social exclusion.
In the context of the fight against the coronavirus pandemic, the European Commission launched the COVID-19 Clinical Management Support System (CMSS). The aim is to support doctors, nurses, and other healthcare professionals in hospitals that are currently dealing with COVID-19 cases all over the EU, UK and the EEA countries. This system allows for the professionals to communicate easily with colleagues, exchange knowledge, discuss cases and improve training, namely via webinars. For more information click here.
The Information Center for Rare Diseases and Orphan Drugs (ICRDOD) is conducting a survey on the impact of COVID-19 on rare disease patients and their families in Bulgaria. The survey aims to examine the experiences and difficulties of patients with rare diseases and their families, related to COVID-19 and the medico-social situation in our country. It contains 11 questions and takes no more than 15 minutes to complete. The survey is anonymous and the answers will be used only for the purposes of this survey. If you would like to participate in our survey you can fill it out here.