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However, groundbreaking discoveries such as VEXAS are now convincing a growing number of researchers that somatic mutations may play a significant role in the development and progression of other diseases beyond cancer.
Genetic disorders are broadly categorized into three main types: chromosomal, complex (multifactorial), or single-gene (monogenic) disorders.
Recently, medical advancements have not only led to the discovery of new genetic conditions, but have also prompted a reevaluation of our understanding of genetic disease.
Historically, genetic sequencing has primarily focused on easily accessible blood cells. However, blood cell analysis may not accurately reflect the genetic landscape of diseases affecting other organs.
Our bodies have remarkable mechanisms for repairing genetic errors, but occasionally these errors slip through the cracks. This leads to a phenomenon known as "somatic mosaicism," where different groups of cells within the same individual possess distinct genetic makeups.
Carrying a gene mutation doesn't guarantee the development of a disease. In fact, many people carry mutations without experiencing any health problems.
The concept of somatic mutations, genetic alterations acquired during an individual's lifetime, is now challenging the traditional view that genetic diseases are solely inherited.
We inherit a unique blend of genetic information, receiving half our genes from each of our biological parents. A genetic mutation, a change in the DNA sequence, can be inherited from either parent or, in some cases, may arise spontaneously during development.
The presence of somatic mutations reveals a fascinating truth: we don't possess a single, uniform genome perfectly replicated in every cell of our bodies. Instead, we harbor a mosaic of genetic variations.
However, physicians are increasingly recognizing that somatic mutations–genetic changes acquired during an individual's lifetime–may play a crucial role in many diseases previously thought to be unrelated to genetics.
Dr. Jason Liebowitz, a rheumatologist at Columbia University, warns that identifying disease-causing somatic mutations will involve meticulous investigation, ingenuity, and a commitment to examining cells and tissues throughout the body. However, he stresses that the potential impact of somatic mutations in adult patients can no longer be ignored.
Sources: (The Atlantic) (Cleveland Clinic)
See also: Genetic mutations that increase vulnerability to certain disorders
The NIH team's groundbreaking 2020 publication sent shockwaves through the medical world. They’ve identified a disease now recognized as "VEXAS" that is linked to a somatic mutation.
These arise when there's an abnormality in the number or structure of chromosomes. Some well-known examples of chromosomal disorders include Down syndrome (trisomy 21), Turner syndrome, and triple X syndrome.
Traditionally, for many physicians, the concept of a "genetic disease" has been synonymous with inherited conditions. These are disorders passed down through families, often appearing at birth.
Genes are composed of DNA. This intricate molecule carries the instructions that guide the development and function of every cell in our body, ultimately shaping all our unique traits.
Genetic disorders arise when our genes are altered or we have abnormal amounts of genetic material. These alterations, known as mutations or pathogenic variants, can disrupt the normal functioning of your genes, leading to various health problems.
These occur when a mutation affects a single gene. Examples include cystic fibrosis and sickle cell anemia.
These result from a complex interplay of multiple genes and environmental factors. Examples include heart disease, diabetes, late-onset Alzheimer’s and certain types of cancer.
Researchers at the National Institutes of Health (NIH) have made a groundbreaking discovery while investigating some of America's most baffling medical cases. Dr. Donna Novacic and Dr. David Beck have identified a previously unknown disease linked to a somatic mutation.
These genetic alterations are often triggered by exposure to harmful substances such as tobacco smoke, ultraviolet radiation, and certain environmental toxins.
According to medical experts, somatic mutations arise after conception—when a sperm fertilizes an egg—and continue to accumulate throughout our lives.
This ambitious initiative aims to deepen our understanding of the diverse genetic variations that exist among cells within the human body.
This discovery has compelled scientists to reevaluate the significance of somatic mosaicism in human disease. To further investigate this phenomenon, the NIH launched the Somatic Mosaicism Across Human Tissues (SMaHT) Network in 2023.
In recent years, advancements in genetic sequencing technology have revolutionized the field. These technologies are now significantly faster, more affordable, and provide a higher level of detail than ever before.
This progress has made it more feasible to sequence the genomes of different cells within the same individual, allowing scientists to understand the extent of a person’s genetic variation.
Jake Rubens, CEO and cofounder of Quotient Therapeutics, a biotech company focused on somatic genomics, says that due to DNA tweaks caused by somatic mutations, we likely have closer to 30 trillion genomes spread across our cells, as opposed to a single genome.
Surprisingly, even neighboring cells, seemingly identical under a microscope, can have around 1,000 genetic differences.
Since the 1990s, oncologists have understood that most cancers stem from somatic mutations in genes that either promote or suppress tumor growth.
Dr. James Bennett, a researcher supported by the SMaHT Network, emphasized the significance of this initiative. He explained, "For the first time, we will have an atlas of somatic mutations across the entire body."
While somatic mutations offer valuable insights into disease, their impact may not always be as clear cut as in cancer cases or VEXAS. Identifying inherited mutations is relatively straightforward, like finding a red ball in a sea of white. In contrast, somatic mutations are harder to detect, blending seamlessly into the cellular landscape like shades of gray.
For years, we've pictured our genetic code as a static blueprint, a fixed set of instructions passed down from our parents. But groundbreaking research is shattering that long-held belief. Scientists are discovering that our bodies are a complex mosaic of genetic variations, a kaleidoscope of subtle differences that accumulate throughout our lives. This revelation has the potential to revolutionize how we understand and treat disease, opening doors to new diagnostics and therapies.
Intrigued? Click through to explore the discoveries about genetic mutations and their impact on human health.
Genetic diseases: what doctors got wrong, and what they know now
A new type of gene variation has been found to cause diseases
HEALTH Dna
For years, we've pictured our genetic code as a static blueprint, a fixed set of instructions passed down from our parents. But groundbreaking research is shattering that long-held belief. Scientists are discovering that our bodies are a complex mosaic of genetic variations, a kaleidoscope of subtle differences that accumulate throughout our lives. This revelation has the potential to revolutionize how we understand and treat disease, opening doors to new diagnostics and therapies.
Intrigued? Click through to explore the discoveries about genetic mutations and their impact on human health.