Over 350 million people worldwide suffer from more than 10,000 genetic disorders/rare diseases. On average, it takes 7 years to reach a correct diagnosis, with over 40% of patients initially misdiagnosed. The global societal burden exceeds €2 trillion, underscoring the urgent need for faster, more accurate, and affordable screening and diagnostic solutions to enable timely treatment.
Every year, 140 million babies are born, and 7 million will have a genetic disorder. Unfortunately, most of these cases go undiagnosed or misdiagnosed due to the limitations of current screening methods—leading to delayed interventions, poorer health outcomes, and significant financial strain for families and healthcare systems.
In the Global North, outdated technologies result in over 400,000 false positives, causing unnecessary emotional distress and avoidable costs.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 reduce lifetime healthcare costs by up to €500,000 per patient, while the total cost of disease management can exceed €2.5 million per case.
At the heart of it all is infant mortality—one of the most powerful indicators of a society’s quality of life and prosperity. Newborn screening is one of the most effective tools we have to improve it.
gMendel® technology is a groundbreaking, AI-powered solution that delivers accurate, fast, and affordable screening for genetic conditions at scale. By facilitating earlier interventions, it reduces patient suffering and has the potential to save healthcare systems billions globally.
What sets gMendel® apart is its scalability and focus on mass genetic screening rather than individual diagnostics. Operating on a SaaS model, our platform processes hundreds of thousands of samples, significantly enhancing the speed and efficiency of genetic screening for large populations. This approach not only expedites diagnosis but also democratizes access to genetic insights, enabling large-scale health interventions that are both feasible and financially sustainable.
By seamlessly integrating genomics with AI, gMendel® surpasses existing technologies, delivering faster, more affordable, and superior results—all without requiring skilled personnel (i.e. Bioinformaticians for analysis and Geneticists for interpretation). In 2022, we became the world’s first IVD-certified technology for screening genetic disorders using long-read sequencing and AI, proudly achieving the CE mark.
Duchenne muscular dystrophy (DMD) is a genetic disorder, which involves quickly worsening muscle weakness. It is caused by a defective gene for dystrophin – a protein in the muscles -, and often occurs in people without a known family history of the condition. The condition mostly affects boys and rarely girls.
Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene. CF causes the mucus to be thick and sticky, causing breathing problems and making it easy for bacteria to grow. This can lead to repeated lung infections and lung damage. CF affects mostly lungs, pancreas, liver, intestines, sinuses, and sex organs.
Klinefelter syndrome, sometimes called Klinefelter’s, KS or XXY, is caused by an additional X chromosome in boys. Some boys have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Klinefelter syndrome affects around 1 in every 660 males worldwide.
Turner syndrome, a condition that affects only females, occurs when one of the X chromosomes is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries and heart defects. It can be diagnosed prenatally, during infancy or in early childhood.
Down syndrome is the condition where a child is born with an extra copy of their 21st chromosome, also known as trisomy 21. It is the most common genetic chromosomal disorder, causing physical and mental developmental delays and disabilities in children, and occasionally other medical abnormalities, including heart and gastrointestinal disorders.
Edwards syndrome, also known as Trisomy 18, is a genetic disorder caused by the presence of a third copy of all or part of chromosome 18. Many parts of the body are affected. Babies are often born small and have heart defects. Other features include a small head, small jaw, clenched fists with overlapping fingers, and severe intellectual disability.
Patau syndrome is a rare genetic disorder caused by having an additional copy of chromosome 13 in some or all of the body’s cells. It’s also called trisomy 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects. Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 births.
Prader–Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on chromosome 15. In newborns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected develop insatiable appetite, which often leads to obesity and type 2 diabetes.
Metachromatic leukodystrophy (MLD) is a rare hereditary disease characterized by accumulation of fats called sulfatides. This causes the destruction of the protective fatty layer (myelin sheath) surrounding the nerves in both the central and the peripheral nervous, ultimately affecting both intellectual and motor function.
MDP syndrome, also known as mandibular dysplasia with deafness and progeroid features, is an extremely rare metabolic disorder that prevents fatty tissue from being stored underneath the skin. It is only known to affect a very small number of people worldwide – less than 12 cases have been diagnosed as of December 2014.
Phenylketonuria (PKU) is a genetic disorder, passed from both parents, in which an infant’s body lacks the ability to properly break down an amino acid called phenylalanine. As a result, PKU leads to increased levels of phenylalanine, which harms the central nervous system, leading to brain damage and mental disability.
Spinal muscular atrophy (SMA) is a group of genetic disorders, caused by a change in the SMN1 gene. SMN1 gene is responsible for producing a protein that the motor neurons need to be healthy and function. When part of the SMN1 gene is missing or abnormal, there isn’t enough protein for the motor neurons, thus the muscles start to weaken.
Fragile X is the most frequent inherited form of intellectual disability. It estimated to have a worldwide prevalence between 1:5,000-7,000 men and 1:4,000-6,000 women. The disorder is caused by an expansion of a trinucleotide segment (CGG) in the Fragile X Mental Retardation-1 gene (FMR1) located in the X chromosome.
Triple X syndrome, also called trisomy X or 47, XXX, is a genetic condition that affects girls only. Females normally have two X chromosomes in all cells — one X chromosome from each parent. In triple X syndrome, a female has three X chromosomes, hence the condition is called Triple X. Triple X affects about 1 in 1,000 females.
Jacobsen syndrome is a rare condition that’s caused by the deletion of several genes in chromosome 11. It’s mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. It occurs in about 1 in 100,000 newborns.