Why sequencing the human genome failed to produce big breakthroughs in disease

Why sequencing the human genome failed to produce big breakthroughs in disease

Publication date: Feb 12, 2020

In 1996, Walter Gilbert, a Nobel laureate, said, -The results of the Human Genome Project will produce a tremendous shift in the way we can do medicine and attack problems of human disease. “

The same year, President Bill Clinton stated the Human Genome Project would -revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases. “

There are indeed individual gene mutations that cause devastating disorders, such as Huntington’s disease.

But most common debilitating diseases are not caused by a mutation of a single gene.

Instead, most common debilitating diseases are caused by combinations of mutations in many genes, each having a very small effect.

Since common serious diseases are rarely caused by single-gene mutations, they cannot be cured by replacing the mutated gene with a normal copy, the premise for gene therapy.

Gene therapy has gradually progressed in research along a very bumpy path, which has included accidentally causing leukemia and at least one death, but doctors recently have been successful treating some rare diseases in which a single-gene mutation has had a large effect.

Although you cannot bring your genome card to your next doctor’s appointment, perhaps you can bring a more nuanced understanding of the relationship between genes and disease.

Concepts Keywords
Alcoholism Gene therapy
Bill Clinton Single common diseases
Bipolar Disorder Disorders Huntingtons disease
Causation Understanding relationship disease
Chromosomes Genetic disease
DNA Common debilitating diseases
Emergency Room Leukemia
Evolutionary Pressure Attention popular media
Francis Collins Gene therapy
Gene Neurogenetics
Gene Therapy Gene therapy
Genetic Genetic disorder
Genetic Disease Applied genetics
Genome Emerging technologies
Interact Genomics
JAMA Biotechnology
Leukemia Branches of biology
Medicine Life sciences
Microbes Molecular biology
Nobel Laureate
Pulitzer Prize
Single Gene Disorders
Walter Gilbert


Type Source Name
disease MESH rare diseases
disease MESH leukemia
disease MESH death
disease MESH genetic disease
pathway KEGG Alcoholism
disease MESH alcoholism
disease MESH schizophrenia
disease MESH bipolar disorder
disease MESH diagnoses
disease MESH emergency

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