Published on 20.02.2020
Research Acceleration
A little more than one out of two people with a rare disease has a precise diagnosis, and the search for a diagnosis exceeds 5 years for more than a quarter of them (1). Of the approximately 3 million French people affected by a rare disease, these delays in diagnosis or misdiagnoses result in inadequate care that can have significant repercussions.
Two years of waiting for Margot to be diagnosed
Laurence, mother of Margot, suffering from an extremely rare genetic disease, testifies. "For Margot, we had to wait 2 years but I will never forget April 17, 2018, the day when Pr Arnold Munnich, from the Imagine Institute and Hopital Necker-Enfants malades AP-HP, called me to tell me that we had found." Once the diagnosis is made, families feel less alone and hope is reborn. "Since the diagnosis, I have started to live again. Diagnosing a disease means identifying your enemy and allowing researchers to one day find a cure. My family's entire life was determined by the diagnosis," says Laurence.
Imagine's ambition: to diagnose 80% of children with rare diseases
Diagnostic errancy is the period between the appearance of the first symptoms and the date when a precise diagnosis is made. As the leading European research center for genetic diseases, which account for 80% of rare diseases, Institut Imagine (AP-HP/Inserm/Université de Paris) has made the development of diagnostic tools one of its priorities.
D’énormes progrès ont déjà été réalisés puisque, depuis l'ouverture de l'Institut Imagine en 2007, nous avons doublé les capacités de diagnostic, mais nous sommes encore loin du compte. Imagine s’est donné comme objectif de diagnostiquer 80 % des enfants atteints de maladies rares et permettre l’accès à un traitement à 30% des enfants atteints dans les années à venir.
Identify the genetic mutations involved and develop new diagnostics
Our genome has about 6 billion nucleotides, represented by the four letters A, T, G and C, the building blocks of our DNA. The succession of these nucleotides - like the letters of a sentence - has variations at certain points between individuals. Overall, there are only a few differences between two individuals, about 0.1%, which is still 3 million different nucleotides. These variations in the genome may or may not have repercussions for the individual. The challenge of genetic research is to determine which of these variations are linked to diseases. For these, researching them through genetic testing will allow for a diagnosis to be made.
The Imagine Institute has developed a platform integrating state-of-the-art equipment to analyze genomes and identify these variations linked to genetic diseases. This platform implements new diagnostic tools in collaboration with research teams (Imagine, INEM, SFR), and provides technological support to the genetic diagnostic laboratories of Hôpital Necker-Enfants malades AP-HP. A team of 5 people is in charge of the genomic platform, which since 2018 integrates a high-throughput DNA sequencer that has reduced the diagnosis time for diseases.
Inform and mobilize around rare diseases and their diagnosis
Informing health professionals and the general public is an essential factor in ensuring that each patient is well oriented in his or her care and can be quickly diagnosed when available. For these reasons, information and training are part of the missions of the Imagine Institute, one of the major actors of the National Plan for Rare Diseases of the Ministry of Solidarity and Health. Thus, as every year, on the occasion of International Rare Disease Day on February 29th, Imagine and Hôpital Necker-Enfants malades AP-HP open their doors and offer conferences, animations and workshops to raise awareness of the challenges of rare diseases.