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2019 World Sickle Cell Awareness Day

Red blood cells, sickle shaped (Sickle Cell Disease) ©Inserm/Chevance de Boisfleury, Anne-Marie

Wednesday 19 June 2019 is World Sickle Cell Disease Day.

This is the most widespread genetic disorder in the world: It affects over five million people(1). It can have serious consequences—anaemia, episodes of pain—and may involve different organs or reduced resistance to certain infections.

From the physiological point of view, this disease of the blood is characterised by altered haemoglobin. Haemoglobin is the main constituent of the red blood cell. It is responsible for oxygen transport in the bloodstream, and its distribution to all the organs. The red blood cell becomes deformed, assumes a sickle shape (see illustration), and can no longer circulate through the blood vessels.

Research on sickle cell disease is currently aimed at improving treatments, by gene therapy and other means. Researchers are also studying the molecular mechanisms of the disease and the behaviour of abnormal haemoglobin.

Source (1): orphanet.fr

World multiple sclerosis Day

 

Multiple sclerosis ©Inserm/RIEGER F

World MS Day 2019 will take place on 30 May.

The 2019 campaign is called ‘My Invisible MS’ and the theme is visibility.

Multiple sclerosis (MS) is an autoimmune disease that affects the central nervous system. It causes the progressive destruction of the myelin sheath surrounding the nerve cells, which is essential for their protection and for the transmission of nerve impulses, leading to motor, sensory, and cognitive disruption.

Inserm teams are mobilized to further research into MS.

At present, magnetic resonance imaging (MRI) is widely used to diagnose and follow up patients with the disease. However, no imaging tools exist to predict the onset of relapse.

Researchers from the “SpPrIng” team, led by Fabian Docagne at Inserm Unit 1237 in Caen, France, have developed an MRI technique in which the progression of the disease can be followed in space and time in a murine model of MS. To do this, they used MRI-detectable iron beads that bind to the adhesion molecules.

The ability to effectively repair myelin is a key factor in countering the progression of MS. Understanding why and how some patients are able to better manage the disease than others is essential.

Sunday, May 12th: International Fibromyalgia Awareness Day

Centre d'évaluation et de traitement de la douleur de l'hôpital Ambroise Paré

©Inserm/ Delapierre, Patrick

26th International Fibromyalgia Awareness Day

Recognized as a rheumatic disease by the WHO in 1992, fibromyalgia is characterized by chronic widespread and persistent pain occurring in multiple areas of the body. This affects functional capacity, which varies over time and from individual to individual.

According to the French National Authority for Health (HAS), between 1.4% and 2.2% of the country’s population are considered to be affected, with 80% of those diagnosed being women.

In addition, sufferers very frequently experience chronic fatigue, cognitive dysfunction, attention and sleep disorders, as well as mood disturbances. These symptoms that are associated with the chronic pain encountered in fibromyalgia can negatively impact daily living activities. Sufferers may find it difficult to hold down a job, for example, or their family or social lives may be affected, which can in turn lead to depression.

In addition to being difficult to diagnose, many attempts have been made to treat fibromyalgia, involving medication and other types of therapy.

A collective expert review by Inserm on fibromyalgia, commissioned by the Direction Générale de la Santé (French Department of Health), is currently being carried out. The results will be published by the end of the year.

Committed to improving the diagnosis of fibromyalgia and the management of the associated chronic pain, the researchers at Inserm are available to answer your questions.

Read more on the subject on the Inserm Press Room :

“A new solution for chronic pain“, published 03/12/2018

Read the article (in French) “Fibromyalgie, l’invisible douleur “, published in Science&Santé (n°35, March-April 2017).

Tuesday, 9 May : World Asthma Day

World multiple sclerosis Day

Monday, May 28 is World MS Day.

Multiple sclerosis (MS) is an autoimmune disease that affects the central nervous system. It causes the progressive destruction of the myelin sheath surrounding the nerve cells, which is essential for their protection and for the transmission of nerve impulses, leading to motor, sensory, and cognitive disruption.

The ability to effectively repair myelin is a key factor in controlling the progression of the disease.

 

Inserm teams are mobilized to further research into MS.

At present, magnetic resonance imaging (MRI) is widely used to diagnose and follow up patients with the disease. However, no imaging tools exist to predict the onset of relapse.

Researchers from the “SpPrIng” team, led by Fabian Docagne at Inserm Unit 1237 in Caen, France, have developed an MRI technique in which the progression of the disease can be followed in space and time in a murine model of MS. To do this, they used MRI-detectable iron beads that bind to the adhesion molecules.

The ability to effectively repair myelin is a key factor in countering the progression of MS. Understanding why and how some patients are able to better manage the disease than others is essential.

To gain a better understanding of the phenomenon, Inserm researchers transplanted lymphocytes from healthy donors or MS patients into the demyelinated lesions in the spinal cord of mice. The study of lymphocytes from patients with strong capacities for remyelination is a promising route to the development of new myelin regeneration strategies.

World Asthma Day

Tuesday May 1 is World Asthma Day – a day to educate and raise public awareness to improve the diagnosis and treatment of asthma.

Asthma is a respiratory disease that can be brought on by pollution, various allergies or genetic predisposition. It affects 9% of children, and those under the age of 15 account for over 65% of hospitalizations for the condition. Asthma remains under-diagnosed and insufficiently treated. Although often trivialized, it is responsible for 900 deaths per year in France.

During an attack, the walls of the airways swell, which causes them to narrow and make breathing difficult. These symptoms can also occur with physical effort or strong emotions such as anger or fear.

Recently, a team from Inserm and the CNRS has demonstrated that allergic asthma is triggered by the hyperactivity of a protein called interleukin 33. Being able to block this mechanism would therefore make it possible to develop new treatments.

Committed to improving the diagnosis and treatment of this chronic disease, Inserm researchers are available to answer your questions – particularly regarding its risk factors, development and existing treatments.

Wednesday, April 25, 2018: World Malaria Day

Caused by a parasite of the genus Plasmodium, malaria is transmitted to humans through bites from the female Anopheles mosquito. It can also be transmitted via blood transfusion or from mother to child at the end of pregnancy. [1]

In 2016, the number of deaths caused by malaria was estimated at 445,000. Half of the world’s population is exposed to the risk of developing this disease [2], hence the need to act.

It is precisely in order to raise public awareness of the disease and increase its involvement in fighting it that World Malaria Day is held each year on April 25.

This year’s theme, “Ready to Beat Malaria”, was the ideal opportunity to highlight the work of researchers who strive all year round to combat this disease.

The work of Inserm Research Director Françoise Benoit-Vical and her team at the CNRS Coordination Chemistry laboratory focuses on understanding the mechanisms of Plasmodium resistance to artemisinin, the essential compound of antimalarial treatments, and conducting research into new antimalarial drugs. They recently demonstrated that the parasites resistant to this drug category are also resistant to many of the other antimalarials, including compounds with a hybrid chemical structure initially designed to avoid any resistance.  These results raise fears of a generalized cross resistance of the parasite leading to a genuine therapeutic deadlock.

Inserm unit U1257 “Mosquito immune responses”, led by Stéphanie Blandin, seeks to understand how mosquitoes defend themselves against the parasites in order to use this anti-parasitic response to combat the transmission of malaria.

With this in mind, the laboratory is currently working on the development of two new antimalarial molecules to produce drugs that prevent transmission. This represents a critical challenge in the fight against malaria because very few existing drugs are able to eliminate the forms of the parasite transmissible to mosquitoes. As a consequence, even an individual cured of malaria may store these transmissible forms in the blood for one or two weeks – parasites which are likely to be ingested by a mosquito during a blood meal and then be passed on to someone else.

 

[1] For more details, see the WHO page dedicated to World Malaria Day

[2] For more details, see the Inserm report on this topic

Immunization Week 2018

The thirteenth annual World Immunization Week will take place from April 23 to 29, 2018. The campaign, created by the World Health Organization (WHO), undertakes to raise awareness about the stakes of vaccine protection.

This year, WHO is focusing on the importance of immunizing every child to “prevent the relevant diseases and protect their lives.”

The theme of the French version of this event, coordinated by the Ministry of Health and Santé Publique France, will be infant immunization. It will be a chance to continue teaching people about immunization in the context of the extension of vaccination requirements for children under age two, which entered into force in France on January 1, 2018.

The aim of the week is to increase understanding about what immunization is while reminding people that it is the best way to prevent certain illnesses.

Read the Inserm report that reviews the scientific knowledge relating to vaccination.

Read our other content about immunization:

Combining Administration Routes for Tailor-made Vaccination

Vaccines: Good News for Our Children!

What does science say about the eleven vaccines that will be mandatory for all children in France starting in 2018?

Parkinson’s Disease: Acute Risk in Agricultural Areas

© Fotolia

A study published in the Bulletin épidémiologique hebdomadaire (BEH – Weekly Epidemiology Report) for World Parkinson’s Day suggests that the risk of developing the disease is higher in people who live in farming districts.

A national study, published in the BEH devoted to the epidemiology of Parkinson’s disease in France, is researching the incidence of Parkinson’s disease in relation to the agricultural characteristics of French districts. Two Inserm researchers, Sofiane Kab and Alexis Elbaz (Inserm/Santé Publique France) are participating in the study.

By analyzing the French state health insurance’s SNIIRAM database, this national study confirms that Parkinson’s disease is associated with professional exposure to pesticides, a fact that has already been revealed by several studies. This has made it possible to observe that Parkinson’s disease occurs more frequently among those affiliated to the social security body for agricultural workers (Mutualité Sociale Agricole), particularly farmers, than among affiliates of other national health insurance plans.

On top of this, the results suggest that non-professional pesticide exposure related to environmental exposure, for example, could also increase the risk of developing Parkinson’s disease. The number of cases of Parkinson’s disease that can be attributed to pesticide exposure is thought to surpass professional exposure.

These results do need to be confirmed by complementary studies.

Yet they tend to confirm that the incidence of Parkinson’s disease in the general population is higher in the most highly agricultural districts, especially viticultural districts.

Rare Disease Day 2018: Show Your Rare. Show You Care.

February 28, 2018, marks the eleventh annual world Rare Disease Day, which carries the slogan “Show your rare. Show you care.” and the #ShowYourRare hashtag. World Rare Disease Day was created in 2008 by EURORDIS and the Council of National Alliances. Ninety countries will be participating in 2018.

Orphanet: a Portal for Rare Diseases and Orphan Drugs

Orphanet, which is coordinated by Inserm and is a member of the Rare Disease Platform, is the portal of reference for rare diseases and orphan drugs. It offers an array of freely accessible services to allow patients to understand their disease and its consequences, and to orient them in their care pathways by identifying diagnosis laboratories and reference centers.

Access Orphanet

Contact Orphanet

SOLVE-RD: Major European Funding for Rare Disease Research

A large consortium headed by the University of Tübingen (Germany), the Radboud University Medical Center in Nijmegen (Netherlands), and the University of Leicester (UK), as well as Inserm in France through Orphanet, two major research institutions (the Myology Center for Research and the Brain and Spine institute in Paris), Eurordis, and the Dijon University Hospital, received a €15 million grant for the SOLVE-RD research program.

This large-scale research program is operating under the European Commission’s Horizon 2020 program. Its aim is to use a single infrastructure to coordinate and analyze all data generated across Europe on rare diseases in order to better identify and diagnose people suffering from the same rare disease.

Today, no less than twenty-four European Reference Networks (ERN) have been set up to improve and harmonize diagnosis and treatment for people with rare diseases. To date, four of them have joined SOLVE-RD by adding and sharing their patient data: RND for rare neurological diseases, EURO-NMD for neuromuscular diseases, ITHACA for congenital malformations and intellectual disability, and GENTURIS for genetic tumor risk syndromes. Other ERNs will join the project in the months to come.

The SOLVE-RD project website

Download the press release

The SOLVE-RD Member Inserm Teams

Inserm Unit US14 Information and service platform for rare diseases and orphan drugs (Orphanet)

Contribution: description of profiles of patients suffering from unnamed rare diseases

Inserm Unit 1127 Brain and Spine Institute (ICM)

Contribution: ERN-RND

Inserm Unit 974 Myology Center for Research (CRM)

Contribution: ERN-EURO-NMD

View Inserm’s latest press releases on rare diseases:

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