Treatments

Nowadays, some genetic diseases may be treated with drugs that reduce the impact of the genetic defect. Patients will have life-long dependence on these treatments, which can be effective to various degrees. Since most genetic diseases are rare, the available drugs are very expensive. 

Cures

A genetic defect cannot be cured by classical drugs. Modern molecular biology has delivered novel techniques, including gene therapy and gene editing, that can be used to complement genetic defects or correct mutations in DNA.

These techniques have been successfully applied to cure genetic defects in animal models and advances have been in human therapy. Three main factors are still limiting the broad applicability: lack of specificity, delivery and side effects. 

In spite of their alledged specificity, gene editing tools introduce a considerable amount of off-target modifications, including small base changes (SNPs and INDELs) as well as larger deletions, inversions and translocations of DNA. These undesired changes may be innocuous, or they may lead to secondary defects or disease, including cancer.

Starting from a single ovule and sperm cell, the human body develops into a complex entity consisting of over 37 trillion cells. One of the major challenges is to how to deliver a gene editing or therapy to sick cells without introducing additional risks.

Diseases affecting cell types that are easily accessible (skin, eyes, blood) are the first target for gene editing therapies. In some cases, like b thalassemia or sickle cell disease, gene editing may be performed ex vivo (out of the body) and modified cells may be reintroduced after verification. Diseases affecting other cell types present more challenges.

Gene editing during gamete formation or early embryonic stages offers the incredible opportunity to eliminate the genetic defect forever from the germline. However, any new error introduced at these early stages would also be transmitted through the germline and affect not only the resulting baby, but his or her descendants. Until this risk is under control, current scientific consensus is that modification of the DNA of the human germline or embryos is unethical. 

Prevention

Most young couples are not aware of their genetic heritage, and preventive measures are often only implemented to seek a child second to a first-born with a genetic disease. Transmission of disease alleles can be prevented by genetic testing of future parents, assisted reproduction and preimplantation genetic diagnostic of embryos, or selective termination of pregnancy.

All these preventive options pose important ethical dilemmas.

Cost

When available, treatments and cures of genetic disease are extremely expensive. As the cost of genetic testing is dropping, the prevention of transmission of genetic disease is becoming an increasingly attractive, cost-effective alternative to reduce the impact of genetic disease and human suffering.

Mendelion is developing personalized tools to prevent the transmission of genetic disease alleles

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