How reading the genome gave hope to 300 million patients

Rare diseases. The only thing really rare about them is their name! While it is true that individually, each rare disease only affects a handful of people, together, they represent 300 million individuals worldwide. That is 4% of the human population.  These 300 million people suffer from over 7.000 different diseases that are catalogued under the generic name ‘rare diseases’, simply because they have a common feature: they affect fewer than 5 in 10.000 people. But that is not the only thing these diseases have in common. Most of them are genetic, appear during childhood and are incredibly challenging to diagnose.  Did you know that it takes an average of 7 to 8 years before a diagnosis is reached? During this time, a patient’s condition can significantly deteriorate. To better understand this fascinating field, we have the pleasure of welcoming on this podcast Pr. Stanislas Lyonnet, the Director of Imagine, the Paris-based Institute of Genetic Diseases. He is also a renowned Professor of Genetics and a clinical geneticist. What you will learn in this episode:  most rare diseases have a genetic cause  gene therapy is a medical approach that treats or prevents diseases by correcting the underlying genetic problem  90% of rare diseases have no effective treatment  finding solutions for rare disease patients has become a global fight  A bit of history: 1953 - discovery of the structure of DNA 2001 - publication of the first draft of the human genome  2021 - adoption of the first UN Resolution on Addressing the Challenges of Persons with Rare Diseases and their Families by Europe’s Member States Learn more about diseases names Rare genetic disorders include:  Ehlers-Danlos syndrome AA amyloidosis Adrenoleukodystrophy (ALD) Usher syndrome Mitochondrial diseases What is the rarest genetic disorder? According to the Journal of Molecular Medicine, Ribose-5 phosphate isomerase deficiency, or RPI Deficinecy, is the rarest disease in the world with MRI and DNA analysis providing only one case in history. What are genetic disorders? Genes are made of DNA, which contain instructions for cell functioning and the characteristics that make every human being unique. Genetic disorders occur when a mutation affects genes or when someone has the wrong amount of genetic material. We receive half of our genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to mutations, namely issues within the DNA. This can raise your risk of having a genetic disorder. Genetic disorders can be: chromosomal, complex, single-gene. Science for Care is a podcast by HealthTech for Care, a non profit organization designed to support and promote access to care for all. If you enjoy our show, please mention it to your friends, family and co-workers, and leave ratings and reviews on your favorite listening platform. Production: MedShake Studio Hosted on Ausha. See ausha.co/privacy-policy for more information.