Each year, 140 million babies are born —and 7 million will have a genetic disorder. Tragically, most of these conditions go undiagnosed or misdiagnosed due to the limitations of current screening methods, leading to delayed interventions, worse health outcomes, and significant financial burdens for families and healthcare systems.
In the Global North, outdated technologies result in over 400,000 false positives annually, causing unnecessary emotional distress and avoidable costs.
In the Global South, 95 million newborns have no access to genetic screening at all, missing the critical window for early diagnosis and life-saving treatment.
The challenge is clear: we need affordable, accurate, and scalable mass screening solutions — especially in prenatal and newborn care. Early intervention can prevent long-term complications and save up to €500,000 per patient in lifetime healthcare costs.
Meanwhile, the genetic disorder screening and diagnostics market, valued at €30 billion, is expected to double by 2030.
And at the heart of it all: infant mortality, one of the most powerful indicators of a society’s quality of life. Newborn screening is one of the most effective tools we have to improve it.
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A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence.
Genetic disorders can be caused by a mutation in one gene, by mutations in multiple genes, by a combination of gene mutations and environmental factors, or by damage to chromosomes, the structures that carry genes.
Klea was diagnosed at 5 weeks of age with Homocystinuria, a disorder affecting less than 200 people in the world.
Claire was diagnosed with PKU at birth. Three years later, Claire’s brother, Seth, was also diagnosed with the same condition.
Elise was three months old when she was diagnosed with two congenital diseases: Jacobsen Syndrome and Paris-Trousseau Syndrome.
Sophia was nine months when diagnosed with Spinal Muscular Atrophy (SMA) type 1. SMA is a progressive condition that leads to loss of movement and muscle wasting.
Tom was four when he was diagnosed with Duchenne Muscular Dystrophy (DMD). DMD is caused by a defective gene for Dystrophin, a protein in the muscles. Due to the way the disorder is inherited, the condition primarily affects boys and rarely girls.
Dylan was 4 years old when he was diagnosed with MDP syndrome. Later on, in adolescence, he was also diagnosed with autism.
Areti is a 28-year-old young woman suffering from Spinal Muscular Atrophy (SMA) type 2, a severe neurological disease that leads to gradual weakness and atrophy of the muscles, which destroys the patient’s motor skills.
Anastasia was in an artificial coma for 32 days, before she woke up. That made her the first greek woman with Cystic fibrosis who woke up from a coma and the first ever person who woke up after such a long coma, globally.
Suzie Birchwood is a dancer, choreographer and the artistic director of arc dance. Suzie has Dystonia and is a wheelchair user. She trained in ballet and contemporary.
Chloé Temtchine is an award-winning singer, songwriter and speaker, who was diagnosed with Pulmonary Hypertension and Pulmonary Veno Occlusive Disease (PVOD)
Baby Fitz was born with a dysfunctioning immune system. His treatment offers hope for curing rare diseases.
Anestis and Dimitris were two brothers who had Klinefelter syndrome. As they were never diagnosed, they had to endure the prejudice of their neighbours in a small village, nearly 40 years ago.
Tom Staniford, age 32, was diagnosed with MDP syndrome at 23, when the condition was recognized in 2013. Tom hopes that one day all those with disabilities will be judged by their abilities alone.
Benjamin was diagnosed with Klinefelter disease at 25. After struggling emotionally for years, today he is on testosterone treatment and is happily married to a wonderful woman.
Nico suffered from multiple seizures as early as on the 8th day of his life. Doctors were able to identify the genetic disorder based on machine learning algorithms.
Natalia was born with Down syndrome. Her mother shares her story and the message that living with genetic disorders teaches you the power of love that overcomes any complexity and makes you stronger.
Nina was born with Down syndrome. With unconditional love and support by her family, today, Nina is training teachers how to deal with children with disabilities.
Chloe was diagnosed with MLD when she was just over 2 years old. Despite stem cell transplantation, Chloe passed away after complications of the transplant and acceleration of the genetic mutation.
When Tanner was born, his mother, René, did not suspect anything was wrong with him. Then his doctors noticed that his wrists were retracting and he had an unusual amount of cartilage