Starting Small

HudsonAlpha Researches Life’s Smallest Building Block to Find Cures to Huge Medical Problems.

Even when faced with an enormous task like combating cancer, scientists at the HudsonAlpha Institute for Biotechnology start small. The Institute’s research focuses on DNA and genetics, looking for life’s answers in the finest of fine print: the human genome.

“Cancer is ultimately a disease of the genome,” explains HudsonAlpha Faculty Investigator Sara Cooper, PhD. Genetic mutations accumulate in cells, and under the right conditions, those mutations can lead to the out–of–control cell growth that defines cancer.

“The main challenge in treating cancer,” Cooper adds, “is that those cells that form the tumor are very similar to healthy cells in your body.”

The human genetic code is made up of more than three–billion pairs of letters, but it takes less than a dozen changes in the code to turn a healthy cell into a cancerous one.

A small fraction of cancers can be accounted by a DNA change that is inherited from parents. These changes are associated with increased cancer risk. Mutations in the BRCA genes are associated with increased risk of breast and ovarian cancer. The BRCA1 and BRCA2 genes are tumor suppressors, so mutations that lead to abnormal function of the gene allow tumors to grow and spread.

Using DNA sequencing to identify individuals with an inherited mutation of the BRCA genes opens the door to medical intervention such as increased screening and surgery that can improve the chances of catching and treating breast cancer successfully or even prevent breast cancer from ever arising. It’s just one example of the promise of genomics in cancer research.

HudsonAlpha has already leveraged this knowledge to help people all over the Tennessee Valley. Thanks to a donation from the Russel Hill Cancer Foundation, HudsonAlpha offers free genetic testing for cancer risk to people in North Alabama through the Information is Power campaign.

Through Nov. 6, 2019, any woman or man ages 28 to 30 in Madison, Limestone, Jackson, Marshall or Morgan County may take the Information is Power test for free. Those who fall outside the free demographic can purchase the test for a reduced cost of $129. The test, offered by Kailos Genetics, tests the well-known BRCA1 and BRCA2 genes, as well as several dozen other genes linked to breast, ovarian, colon, and other cancers.

Information is Power has helped more than 4,100 people over the last four years. More than half of those people got their test for free.

The initiative has already identified more than 70 genetic changes across 17 different cancer-linked genes. Over half of the people with mutations that indicate an increased risk of cancer had no strong family history. In most cases, these individuals would not be offered clinical testing, so the Information is Power initiative provides a unique opportunity to learn about genetic risk for cancer for individuals throughout our community

With the information provided through Information is Power, participants with positive results can aggressively screen for cancer and adjust their care with the guidance of their doctors.   

Of course, even with the benefit of better risk detection, there is plenty of work to be done in understanding cancer and how to fight it.

“Genomics is a way for us to look at what are the changes in the DNA, what are the changes in gene expression, what are the changes in what we call epigenetics,” Cooper says.

DNA is the cookbook that has all the ingredients and directions for how our cells function and grow. Changes in DNA are only part of the story since cancer cells also change how genes get turned on or off. When levels of a growth gene go up, tumors expand rapidly, or sometimes a tumor suppressor gene gets silenced, meaning growth that would normally be carefully regulated goes unchecked.

HudsonAlpha’s labs apply genomic technologies to explore these complex interactions, from the genes associated with cancer to the transcription factors that regulate those genes. With 3-billion base pairs of nucleotides in the human genome, the haystack is plenty big. Researchers never know where they might find a needle.

Cooper and her lab focus on cancer genomics, but her group is not alone in that work at the Institute. Devin Absher, PhD, focuses on epigenetic research, helping understand how genes are regulated, which often plays an important role in cancer. The detection of epigenetic changes in cancer can also be relevant for early detection. Le Su, PhD, currently studies mutations on the p53 gene that appear in more than half of all human cancer cases.

One of the smaller, newer research companies at HudsonAlpha has a unique role: working to make sure minorities are represented in genetic research and clinical trials.  Acclinate Genetics recognizes that genetic disorders such as hypertension and kidney disease are more likely to affect African Americans, a group historically under–represented in research studies and clinical trials. 

What’s more, the side effects of some pharmaceuticals can also be affected by genetic ethnicity, says Acclinate Genetics founder Dr. Delmonize “Del” Smith.

“As our country becomes more diverse, the time is now to address the underrepresentation of minorities and people of color in genomic research and clinical trials,” Smith says, citing figures showing that racial and ethnic minorities typically make up only 12-16 percent of clinical studies, though they now compose more than 40 percent of the U.S. population,

Acclinate Genetics is actively reaching out to research firms, while at the same time building a network and database of what Smith terms “willing and diverse participants” ready to participate in research studies.

Though less than two years old, the company is already gaining serious awareness in the scientific and investment communities.  Early October brought news that Acclinate Genetics was named a semi–finalist by the Economic Development Partnership of Alabama’s early stage seed fund, Alabama Launchpad. “This is big for us,” Smith says. “It’s a testament that the investment community has confidence in us.”

About the same time Smith received an invitation for Acclinate to present at the 2019 Texas Life Sciences Forum. “We think recognition of this type will help us as we look for seed investors to make the company scalable,” he added.

At HudsonAlpha, the Institute’s scientists work together to better understand the genome as a whole. Even when faced with the magnitude of a task like combating cancer, researchers at the HudsonAlpha Institute for Biotechnology know the little things can make a big difference.