DEC 01, 2018 5:46 PM PST

Identifying Disease-causing Gene Mutations

WRITTEN BY: Carmen Leitch

Genetic diseases have been traced back to an error in a gene. Many times, a genetic disease can result from errors or mutations in one specific gene, but the mutations that people carry in that gene may not be the same. Sometimes that can result in variability in how the disease looks in different people.

With modern technologies, doctors can find out exactly what error has occurred in a patient’s genetic sequence that causes their disease; this video from Howard Hughes Medical Institute’s (HHMI) biointeractive outlines in only one minute how clinicians find that mutation.

The video uses the disease retinitis pigmentosa (RP) and a patient that suffers from it as an example. In RP, there are several genes that have already been associated with the disease, so a doctor would sequence those genes first when looking for the mutation carried by the RP patient. If the error wasn’t identified after that, other genes might then have to be sequenced. The patient’s mutation might also be modeled in a research organism to observe the impacts.

Source: HHMI

About the Author
  • Experienced research scientist and technical expert with authorships on over 30 peer-reviewed publications, traveler to over 70 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
You May Also Like
JUN 26, 2020
Neuroscience
Artificial and Natural Neurons Communicate Using Dopamine
JUN 26, 2020
Artificial and Natural Neurons Communicate Using Dopamine
Researchers from Stanford University have shown that artificial neurons can communicate with biological neurons with dop ...
JUL 19, 2020
Drug Discovery & Development
Study Finds Turmeric has Antiviral Effects
JUL 19, 2020
Study Finds Turmeric has Antiviral Effects
Researchers from the Wuhan University of Engineering in China have found that curcumin, a natural compound found in turm ...
JUL 23, 2020
Plants & Animals
Sharks Missing from 1/5 of World's Reefs
JUL 23, 2020
Sharks Missing from 1/5 of World's Reefs
Sharks of all sizes are vital to coral reef ecosystems, both as predators and prey. Shark populations have rapidly decli ...
AUG 12, 2020
Space & Astronomy
Earthlike Planets May Orbit Supermassive Black Holes
AUG 12, 2020
Earthlike Planets May Orbit Supermassive Black Holes
Supermassive black holes are enormous wells of gravity that bind galaxies together and emit bright X-ray beams. Known to ...
AUG 22, 2020
Neuroscience
Why Don't Babies Always Remember What they Learn?
AUG 22, 2020
Why Don't Babies Always Remember What they Learn?
Researchers from Ruhr- Universitaet Bochum (RUB) in Germany have found that the mood babies are in when they learn somet ...
AUG 27, 2020
Space & Astronomy
Space Rock May Contain Building Blocks for DNA
AUG 27, 2020
Space Rock May Contain Building Blocks for DNA
Researchers say that a space rock that landed in Costa Rica on April 23rd, 2019, came from an asteroid that exists as a ...
Loading Comments...