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Genetic Testing and Genomic Analysis: National Human Genome Research Institute (NHGRI)

Updated: Sep 23, 2020

National Institutes of Health (NIH) Updates

BRCA2 Deficiency

"NHGRI researchers and their collaborators have identified a specific genomic signature of some aggressive prostate tumors, which may help pinpoint specific treatment options. Findings from the study were published April 15 online in The American Journal of Human Genetics.
The new finding focuses on BRCA2 mutations, which are associated with breast and ovarian cancer, but also increase men's risk for prostate cancer. Both men and women can inherit a faulty BRCA2 gene from either their mother or father. When working properly, the BRCA2 gene helps stop cells from becoming cancerous by producing proteins that fix damage to DNA."

Credit: Ernesto del Aguila III, NHGRI.

Genetic Link to Infertility

"Reproduction is a highly complex process. It involves the orchestration of hormones and body parts that work to create the egg or sperm cells that package our DNA, the genetic material that makes up our 20,000 genes, to be passed along to our children.
The genome is composed of DNA and organized into genes, which are small sections of DNA that are like recipes telling our cells how to grow and function. This intricate process, which involves a particular subset of genes, sometimes fails and leads to infertility."

Credit: Ernesto del Aguila III, NHGRI.

Leukemia Cells

H.R. 493 - Genetic Information Nondiscrimination Act (GINA) Members of congress and National Institutes of Health officials look on as President George W. Bush signs H.R. 493, the Genetic Information Nondiscrimination Act (GINA) of 2008, in the Oval Office on May 1, 2008.

Gene Therapy for Tmc1 Mutations

"A study was published in the July 8 issue of Science Translational Medicine that demonstrated gene therapy as an effective way to improve hearing in patients with two genes linked to genetic prelingual deafness, or hearing loss that occurs before a child learns to speak.
The study focused on deafness caused by defects in the Transmembrane-like channel 1 (TMC1), which is a protein that helps convert sounds into electrical signals for the brain to interpret. Defects in the Tmc1 gene are a common cause of genetic deafness, accounting for 4 to 8 percent of cases."

Credit: Darryl Leja, NHGRI.

Dog Bladder

"A genetic mutation that triggers bladder cancer in dogs is identical to a mutation that is implicated in multiple human cancers.
Dogs could serve as in vivo models for developing therapies for many human cancers, including aggressive skin cancer and cancer of the colon, rectum, ovary and thyroid."

Credit: Darryl Leja, NHGRI.

Circadian Rhythms

"A study by researchers in Italy, published in the October 30, 2014, issue of Genome Biology, describes genetic adaptation to the human circadian clock that was driven by day length in various latitudes. People with circadian rhythms favorable to changes in day length more frequently survived and passed on their genes. Evidence for this was found at 84 genes known to regulate circadian rhythms and sleep cycles."

Credit: Darryl Leja, NHGRI.

Breast Cancer Genes 1 and 2

"Women who are at increased risk for inherited breast cancer, face long term challenges they in managing their care.
A woman carrying BRCA1 and BRCA2 (BRCA1/BRCA2) mutations has a significant probability of developing breast or ovarian cancer (as high as 75 percent) and these mutations account for 20 to 25 percent of all inherited breast cancers."

Credit: Ernesto del Aguila III, NHGRI.


"An important hallmark of schizophrenia has been its tendency to run in families. The illness occurs in less than 1 percent of the general population, but it occurs in 10 percent of people who have a first-degree relative with the disorder, such as a parent, brother or sister.
This genetic association has recently provided a vital clue for deciphering the molecular basis of the disease, which is critical to speed the development of treatments and possibly even prevent the affliction."

Credit: Darryl Leja, NHGRI.

Pediatric Genome Sequencing

"More than most other physicians, pediatricians face complicated ethical questions about what information they should disclose, and to whom, when genomic sequencing uncovers signs of possible future genetically influenced disease in patients who are too young to give informed consent."

Credit: Ernesto del Aguila III, NHGRI.

Retina Therapy

"Millions of people worldwide suffer from diseases of the retina that cause partial or complete blindness. Those with hereditary retinal degenerative disease suffer from a progressive loss of the light-sensing photoreceptor cells, caused by any of over 250 genetic mutations. The retina is the thin layer of tissue at the back of the eye that detects light and color.
It contains photoreceptor cells, known as rods and cones, which are responsible for detecting light and converting it into electrical signals. The retina also contains nerves that relay the electrical signals to the brain, telling it what the photoreceptors are "seeing." These relay cells are known as bipolar cells and ganglion cells."

Credit: Ernesto del Aguila III, NHGRI.

Genetically-Targeted Microfluidic Cultivation

"Researchers for the first time have used a combination of microfluidics and genomics to fish out a specific gut bacterium from the sea of trillions of microbes in the human microbiome.
The new method has broad applications for isolating and studying many now impossible or hard-to-grow microorganisms implicated in health and disease, according to a study published online the week of June 23, 2014, in the Proceedings of the National Academy of Sciences."

Credit: Jonathan Bailey, NHGRI.

NHGRI Fact Sheet: Genetic Mapping

"Genetic mapping offers firm evidence that a disease transmitted from parent to child is linked to one or more genes. Mapping provides clues about which chromosome contains the gene and precisely where the gene lies on that chromosome.
Genetic maps have been used successfully to find the gene responsible for relatively rare, single-gene inherited disorders such as cystic fibrosis and Duchenne muscular dystrophy. Genetic maps are also useful in guiding scientists to the many genes that are believed to play a role in the development of more common disorders such as asthma, heart disease, diabetes, cancer, and psychiatric conditions."

Credit: Darryl Leja, NHGRI.

NHGRI Fact Sheet: Flourescence In Situ Hybridization (FISH)

"Fluorescence in situ hybridization (FISH) provides researchers with a way to visualize and map the genetic material in an individual's cells, including specifc genes or portions of genes. This is important for understanding a variety of chromosomal abnormalities and other genetic mutations.
Unlike most other techniques used to study chromosomes, FISH does not have to be performed on cells that are actively dividing. This makes it a very versatile procedure."

Credit: Darryl Leja, NHGRI.

Brain Cancer Loops

"Your DNA forms thousands of loops, like those of a shoe lace. Just as you learned to tie your shoes by forming separate "bunny ear" loops of string, your DNA forms many of these loops to create genetic neighborhoods within each bunny ear loop.
These neighborhoods bring distant genes and specific gene control switches into close proximity. Genetic neighborhoods can be autonomous and remain separate from other neighborhoods."

Credit: Darryl Leja, NHGRI.

Genomics and Randomized Trials Network (GARNET)

"Researchers supported by NHGRI's Genomics and Randomized Trials Network (GARNET) program, who have been studying the genomes of nearly 5,000 people, have pinpointed a genetic variant tied to increased risk for stoke and cardiovascular disease."

Credit: Jonathan Bailey, NHGRI.

Alzheimer Disease

"Teams of scientists will use support from the National Institutes of Health to conduct research into the genetic underpinnings of Alzheimer's disease, analyzing how genome sequences-the order of chemical letters in a cell's DNA-may contribute to increased risk or protect against the disease."

Credit: Jonathan Bailey, NHGRI.

Polymerase Chain Reaction (PCR)

"Polymerase chain reaction (PCR) is a fast and inexpensive technique used to "amplify" - copy - small segments of DNA. Because significant amounts of a sample of DNA are necessary for molecular and genetic analyses, studies of isolated pieces of DNA are nearly impossible without PCR amplification."

Credit: Darryl Leja, NHGRI.

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