Homepage / Genetic Disorders

Genetic Disorders

Genetic disorders affect nearly 350 million families with children, worldwide.
Still, accurate diagnosis and treatment remain a great challenge for patients, doctors, and healthcare systems.

.

Challenge

Diagnosis of a rare genetic disorder is a long and painful journey that takes on average six to eight years and dozens of medical appointments. Sometimes, the answer never comes, as current diagnostics do not always provide a diagnosis, and finding a cause can be compared to finding a needle in the haystack.

Also, access to cutting edge technology is often limited due to the prohibited costs and, even when used, it requires scarce expert knowledge to unlock the genomic insights with the current technology.

Solution

At gMendel® we think diagnosis first. By combining first-class sequencing technology and Artificial Intelligence, we bring down the time and cost to an accurate diagnosis and offer care givers an automated workflow to decide on a potential treatment.

Our gMendel®Test is a novel diagnostic tool, based on Oxford Nanopore sequencing technology, that provides real-time analysis of hundreds of molecular barcodes simultaneously in less than 24 hours. Variants are analysed, classified and assessed through our Phivea™ Platform by using customized Deep Learning architectures at all levels of the learning process. Following a multi model fusion strategy, the Platform combines outcomes of individual models into a single, accurate medical interpretation.

Genetic Disorders

Klinefelter syndrome

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.

Turner syndrome

Turner syndrome, a condition that affects only females, results 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 to develop and heart defects. Turner syndrome may be diagnosed prenatally, during infancy or in early childhood.

Down syndrome

Down syndrome is a condition in which a child is born with an extra copy of their 21st chromosome — hence its other name, trisomy 21. It's the most common genetic chromosomal disorder and cause of physical and mental developmental delays and disabilities in children, at different degrees. It may also cause other medical abnormalities, including heart and gastrointestinal disorders.

Edwards syndrome

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

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

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.

MLD syndrome

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

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.

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy is a genetic disorder, which involves quickly worsening muscle weakness. Other muscular dystrophies get worse much more slowly. Duchenne muscular dystrophy 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. Due to the way the disorder is inherited, the condition most often affects boys and only rarely girls. The sons of women who are carriers of the disorder each have a 50% chance of having the disorder. The daughters each have a 50% chance of being carriers.

Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a group of genetic disorders, caused by a change in the SMN1 gene, which is responsible for producing a protein that the motor neurons need to be healthy and to function. When part of the SMN1 gene is missing or abnormal, there isn't enough protein for the motor neurons. Most people have two copies of the SM1 gene, received from each parent, and SMA normally only happens when both copies have the gene change. Motor neurons are a type of nerve cell in the spinal cord and lower part of the brain. They control movement in the arms, legs, face, chest, throat, and tongue. As the motor neurons die off, the muscles start to weaken and atrophy (waste away). The muscle damage gets worse over time and can affect speaking, walking, swallowing, and breathing.

Cystic Fibrosis

Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene, affecting the mucus and sweat glands. The CFTR gene provides instructions for making a channel that transports negatively charged particles called chloride ions into and out of cells. CF affects mostly lungs, pancreas, liver, intestines, sinuses, and sex organs. 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. The symptoms and severity of CF can vary: while some people have serious problems from birth, others have a milder version of the disease that doesn't show up in teenage years or early adulthood.

Phenylketonuria

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. PKU leads to increased levels of phenylalanine, which harms the central nervous system, leading to brain damage and mental disability. The treatment involves a strict diet that is very low in phenylalanine. If diagnosis and treatment are delayed, PKU can lead to mental disability by the end of the first year of life.

Gaucher

Gaucher (about 100,000 people worldwide) is the most common disorder among a group of 40 or more disorders called lysosomal storage disorders (LSDs). Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anaemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.

Genetic Disorders

Genetic disorders affect nearly 350 million families with children, worldwide.Still, accurate diagnosis and treatment remain a great challenge for patients, doctors, and healthcare systems.

​.

Challenge

Solution

Genetic Disorders

Genetic disorders affect nearly 350 million families with children, worldwide.
Still, accurate diagnosis and treatment remain a great challenge for patients, doctors, and healthcare systems.

.