At Relief Therapeutics, we launched our genetic medicines initiative with the objective of developing life-altering, potentially curative treatments for patients suffering from devastating rare diseases that currently lack treatment options.

Genetic medicine is a rapidly evolving field involving the delivery of genetic materials, such as DNA and RNA, as a therapeutic into the body. The goal of genetic medicine is to address the underlying genetic cause of diseases, rather than just the symptoms. This innovative approach to medicine has only recently become possible due to advances in science and technology and has the potential to revolutionize the way we treat a wide range of conditions, such as cancer, infectious disease and rare genetic disorders. Some of the most promising applications of genetic medicine include personalized medicine, targeted therapies and gene editing to correct genetic mutations. Advances in gene editing and gene therapy techniques are making genetic medicine more precise and effective than ever before. As our understanding of the role of genetics in diseases continues to expand, genetic medicine is becoming an increasingly important tool for disease treatment and prevention, making it an exciting area of research and development.

First let’s start with the basics:

What is a gene?

Genes are the basic physical and functional units of heredity, made up of DNA molecules that contain instructions for building and maintaining an organism. They are segments of DNA that are located on chromosomes in the cell nucleus and are responsible for determining the traits and characteristics of an organism, such as eye color, height and susceptibility to certain diseases. Each gene is composed of a specific sequence of nucleotides that provides the code for a particular protein or RNA molecule. Genes are inherited from parents and can be passed down through generations, playing a critical role in shaping the genetic makeup of a population. Understanding the structure and function of genes is essential to many areas of biology, including genetics, evolution and biotechnology.^1,2

What is a protein?

Proteins are complex molecules made up of one or more polypeptides which are chains of amino acids whose sequence is encoded in a gene. They play critical roles in almost all biological processes and are necessary for the structure, function and regulation of the body’s organs.

The sequence and arrangement of amino acids in a protein determine its unique shape and function, and this structure is essential for its proper functioning. Proteins are found in all living organisms, from single-celled bacteria to complex multicellular organisms like humans.^3,4

What is an amino acid?

Amino acids are the building blocks of proteins. There are 20 different amino acids that can be combined in different sequences and arrangements to form proteins. Amino acids play essential roles in the body, including serving as precursors for neurotransmitters and hormones, aiding in wound healing and tissue repair and contributing to immune function. They are also involved in energy metabolism and can be used as a source of fuel for the body. The specific functions of amino acids are largely determined by their unique side chains, which vary in size, shape and chemical properties.⁵

Some amino acids can be synthesized in the body, but others (essential amino acids) cannot and need to be obtained from a person’s diet. Phenylalanine (Phe) is one of the 20 amino acids and is an essential amino acid. Humans cannot make Phe and must get it from the food they eat.⁶

Phenylketonuria (PKU) is a metabolic genetic disorder caused by a defect of the enzyme needed to break down Phe, leading to a toxic buildup from the consumption of foods containing protein or aspartame. People with PKU cannot properly break down the extra Phe to convert it to tyrosine.⁷

What is Central Dogma?

The Central Dogma of molecular biology is a theory stating that genetic information flows only in one direction, from DNA, to RNA, to protein or RNA directly to protein.⁸ Proteins do most of the work in the cells. Genetic diseases are caused by random changes in our DNA called variants or mutations, which may be inherited or caused by an unknown reason. The consequence of these changes is that the gene’s instructions for making the protein are now incomplete and result in altered protein function or absence of the protein. These changes to a gene and the resulting protein may cause a genetic disease.⁹

Genetic Diseases

Monogenic diseases are inherited disorders caused by a mutation in a single gene. These mutations result in either an abnormal protein or no protein being produced, which can cause a wide range of disorders such as cystic fibrosis, sickle cell anemia and Huntington's disease. Gene therapy is a promising treatment approach for these types of diseases and involves introducing a healthy copy of the defective gene into the affected individual’s cells using various delivery methods. The aim of gene therapy is to correct the underlying genetic defect and produce a functional protein, ultimately restoring normal cellular function and alleviating symptoms of the disease.