Our platform

Mendelion is developing a fully integrated platform base on genetics, microfluidics and chemoproteomics designed to identify personalized solutions for reproductive technology. We celebrate the development of personalized treatments that help people with devastating genetic diseases. As an alternative to this approach, we aim to develop technology and deliver novel options for prevention. 

Knowledge and awareness of genetic risk are key for prevention

Let’s consider cystic fibrosis, a genetic disorder that affects mostly the lung, but also other organs including the pancreas, liver, kidneys, and intestine, and in which a thick mucus is produced that predisposes patients to infection and malfunction. 

The risk for a baby to be born with cystic fibrosis, one of the most frequent genetic diseases in Caucasians, is about 1 in 5000. It has been estimated that one of 25 individuals of European ascendance is carrying a defective allele of the CFTR gene, causative of the disease. Although over 1500 different mutations in CFTR can cause CF, the majority involve the DF508 mutation. About half of the CF cases in Spain, two-thirds of cases worldwide and 90% of those in the United States involve this mutation. Carriers can be identified by a simple PCR reaction using DNA samples obtained by non-invasive methods. Identification of carriers could drastically reduce the number of cases. So why aren’t all future parents currently tested?

Risk perception

Let’s face it, with a frequency of only 1 in 5000, most couples don’t perceive genetic testing for CF or even rarer genetic diseases as a priority. This perception changes drastically once your baby is identified with a genetic disease.

Pharmacoeconomics

Private and public genetic screening services are available to couples that want to conceive, but broad genetic screening is not currently part of most Health Authorities’ general strategy. The main reasons for this are cost, relative priority versus treatment of existing patients and the fear that one’s genetic information may end up serving illegitimate third-party interests.

Per year, around 360,000 babies are born in Spain. At an estimated probability of 1 in 5000, 72 of these newborns would be suffering from cystic fibrosis. Classical treatment of these babies with conventional antibiotics and anti-inflammatory agents would cost about 10,000€ per patient and total 720,000€ per year. If all would be treated with the latest personalized medicine drug for CF, it would cost 130,000€ per patient or 9,360,000€ per year.

On the other side, to avoid transmission, prior testing for a monogenic disease like cystic fibrosis of 360,000 couples at 140€ per parent would total approximately 100,000,000€. 

Government health budgets are always under pressure, and it is difficult to invest an amount of money that is expected to pay off only over a period 10 years of time.

A paradigm shift from treatment to prevention

Fortunately, the balance is slowly shifting. Screening is becoming more and more affordable, allowing for the analysis of more genes for less money. It is only a question of time before the human race will acquire the knowledge necessary to rationally avoid the transmission of human diseases like cystic fibrosis, fragile X syndrome, spinal muscular atrophy, essential tremor, b-thalassemia and many more.

Mendelion is positioning its platform to provide the tools that will allow us to efficiently use this knowledge and reduce the burden of unwanted genetic heritage.

Read our Data Protecion Policy