Enerca - News

Coming next: Rare Disease Day

2012-02-15 09:18:30

February 29, 2012 marks the fifth international Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 25 European countries. On this day hundreds of patient organisations from more than 40 countries worldwide are organising awareness-raising activities converging around the slogan “Rare but strong together”.

Combination of EMA-binding and AGLT tests shows the highest diagnostic power for hereditary spherocytosis

2012-01-24 17:17:45

In hereditary spherocytosis, as in many other rare diseases, one of the challenges is developing a reliable diagnostic tool. The team from the Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milan), led by Prof. Alberto Zanella, has undergone a performance comparison of several tests to determine which of them is the most useful diagnostic method.

Collaborate with the ENERCA questionnaires for professionals

2011-12-22 12:51:08

ENERCA is a network that needs your collaboration. One of the many ways to collaborate with this project is by answering the questionnaires for professionals you will find in the Activities section of our website.

Presentations from the ENERCA 4th European Symposium on Rare Anaemias now available

2011-12-14 08:31:32

The most influencing professionals around Europe joined their efforts and knowledge with patients associations in the fight against rare anaemias.

A work describing the genetic background and mechanisms of an extremely rare form of hereditary stomatocytosis

2011-11-03 12:31:30

The study describes the genetic background of two cases of stomatin-deficient cryohydrocytosis, a recently described and very rare form of hereditary stomatocytosis. Very few teams work on this kind of disease in Europe. This is why it is important that networks of experts, like ENERCA, join their efforts and make their results accessible to the medical and scientific community.

Study tracks mutations causing CDA II back to the Roman Empire

2011-10-07 15:48:22

The work analyzes two mutations (E109K and R14W) of the SEC23B gene and discovers one of them is responsible for the higher frequency of CDA II in Italian population. The first mutation, E109K, may have originated in the Middle East about 2.400 years ago and may have spread in the heyday of the Roman Empire. The other one may have originated in Southern Italy about 3.000 years ago

Bulgaria is ready for the 4th European Symposium on Rare Anaemias

2011-09-03 13:44:49

In the fight against rare diseases the joint efforts are essential. In the case of rare anaemias, the joint effort is called 4th European Symposium on Rare Anaemias. The event, that will take place in Sofia (Bulgaria) on 19-20 November, is an activity of the ENERCA project which aims to disseminate up-to-date knowledge and increase the public awareness about congenital and rare anaemias.

Eculizumab reduces Paroxysmal nocturnal hemoglobinuria complications and improves survival

2011-07-07 19:09:54

A work published in Blood by researchers from the Leeds Teaching Hospitals (UK) is the first long term study showing the clinical benefits after 8 years of continued treatment with eculizumab. It is a monoclonal antibody that could change the natural history of the disease.

ENERCA presents collaboration with Cameroon to celebrate the International Sickle cell disease day

2011-06-19 14:39:27

Today is the International Sickle cell disease day. It is a hereditary anaemia related to a structural malformation of Haemoglobin, called Haemoglobin S (HbS). The ENERCA project works to spread the latest scientific knowledge about this disease, and other rare anaemias, and supports initiatives to investigate basic and epidemiologic aspects of these pathologies. ENERCA presents a collaboration with the National Sickle Cell Diseases Association of Cameroon to celebrate this special day.

The Virtual Medical University of Monaco offers a Course on Sickle Cell Disease

2011-06-04 17:18:24

The virtual Medical University of Monaco [UMVM], is launching an internet based course on sickle cell disease which will supplement these contributions by providing education to health care personnel offering services to affected patients