The Leading Cause of Infant Mortality
Genetic diseases affect 30 million people in Europe, including more than 550,000 in Belgium, or 1 in 20 people. Caused by DNA abnormalities, they can appear at any age and are often incurable. Their impact on patients and their families is immense. Fortunately, research is progressing and paving the way for new solutions.
What is a Genetic Disease?
A genetic disease results from a change in DNA, passed down from parents or occurring spontaneously. While some are mild, others, more serious, can affect multiple vital functions and manifest at birth or later in life.
Transmission of Genetic Diseases
Genetic diseases can be hereditary or the result of a spontaneous mutation. Some diseases are caused by chromosomal structure abnormalities, such as an excess of genetic material (Down syndrome), while others result from a DNA sequence anomaly.
Symptoms of Genetic Diseases
The symptoms of genetic diseases vary greatly depending on the condition. They may affect physical or neurological development, or impact the heart, muscles, or nervous system. Some manifest at birth, while others appear later in life.
Waiting for a Diagnosis
Diagnosing genetic diseases is complex. With more than 8,000 documented diseases, 50% remain undiagnosed.
Variable symptoms further complicate identification. On average, it takes 18 months to make a diagnosis, but diagnostic uncertainty can last several years. Fortunately, advances in genetics are speeding up this process through genetic testing, which can be done before or after birth.
Treatment
While some genetic diseases remain incurable, medical advances offer new possibilities. Gene therapy, for example, can correct DNA abnormalities, while other targeted treatments help slow the progression of certain diseases and improve patients’ quality of life.
Key Figures
+8,000
genetic disorders
50%
genetic diseases
without diagnosis
85%
genetic diseases
without treatment
30
million people in Europe
75
children are born every day with a genetic disease in Belgium and France
+550,000
people in Belgium
Why is Genetic Research Essential?
Genetic research is at a pivotal moment. Advances in sequencing and data analysis are opening up new possibilities, making treatments more effective and accessible. New therapies are emerging, offering tangible hope to patients and their families.
Supporting this research is more crucial and urgent than ever. GENeHOPE is committed to accelerating these medical advances to transform the lives of millions and offer them a more promising future.
The Importance of Collaboration
Collaboration between genetic centers makes it possible to compare similar cases and thereby uncover unexpected connections. By sharing data and expertise, researchers amplify their discoveries, thereby accelerating diagnosis and the development of new treatments.
An Impact on the Entire Family
Receiving a genetic disease diagnosis disrupts an entire family. Beyond the patient, relatives face numerous challenges, requiring medical support and emotional assistance.
GENeHOPE aims to help these families by facilitating access to diagnosis, care, and appropriate management.
More than just a fund, GENeHOPE represents hope: the hope that every patient can benefit from research advancements and, one day, be cured.
Support and Funding
Despite scientific advances, genetic diseases continue to be too often overlooked or underfunded compared to other conditions. The lack of support from governments and major institutions hinders research and delays the emergence of concrete solutions. For many families, this means not only isolation but also financial barriers to accessing necessary care and treatment. It is urgent to invest more in research and strengthen support for patients in order to improve their care and reduce health inequalities.
Insights from Genetic Experts
“Thanks to the support of GENeHOPE, the University of Ghent and the Imagine Institute in Paris have joined forces to develop a platform for rapid validation combining state-of-the-art tools, enabling every newborn to be identified in time to receive a a28> treatment tailored such as a transplant of stem cells or a gene therapy before even the onset of symptoms. Without the funding from GENeHOPE, this cross-border essential collaboration would not have been possible.”
Filomeen Haerynck
(UGent)
“Genetic research is key to understanding and treating genetic diseases. Every discovery, every breakthrough, paves the way for new hopes for patients and their families.”
Anne De Paepe
Geneticist and expert in genetic diseases.
“Advances in genetics allow us to better understand genetic diseases and develop targeted treatments. It is through collaboration between researchers, clinicians, and institutions that we can transform research into concrete solutions for patients.”
Corinne Antignac
Geneticist and Director of Research at the Imagine Institute.
