HUNTSVILLE, AL (WAFF) - You may have blue eyes and blonde hair or brown eyes and dark hair. Maybe you are short and wide or tall and thin. We get 50 percent of our genes from our mothers. 50 percent from our fathers, but "who" we are and our overall state of health is additionally influenced by our relatives, our environment, and sometimes, our occupations.
The Human Genome Project was completed 15 years ago.
While that statement may sound like it would unlock all the mysteries of life and provide so many answers to a plethora of questions, researchers at HudsonAlpha Institute for Biotechnology in Huntsville say it's only the beginning.
HudsonAlpha opened its doors 10 years ago. And this month is celebrating a decade of discovery.
Researchers are taking the knowledge gained in completing the human genome and dissecting it even further.
In the last 10 years, the institute has identified biomarkers is several cancers: kidney, breast, leukemia and colon.
HudsonAlpha researchers and investigators have made tremendous progress in understanding neurological diseases like Parkinson's, ALS, and Huntington's. Neil Lamb, Ph.D., says half of the plants in the world have had their genomes sequences at HudsonAlpha.
Lamb also is the vice president of Educational Outreach and says HudsonAlpha is making tremendous end roads in education and the economy, educating 1.5 million public school students in Alabama and elsewhere and making a nearly $2 billion impact to the state's economy.
HudsonAlpha is also providing medical diagnoses to many individuals and their families after years of perusing answers from doctor after doctor to no avail.
Such is the case of Anna Brooke Ainsworth. From the beginning, her mom, Miranda Ainsworth, a pediatric occupational therapist, knew her daughter was different.
"There's something about a mother's instinct," she said.
Miranda says Anna Brooke never made those normal growth and behavioral milestones that babies and toddlers should meet, especially in the toddler years.
"She was getting diagnosed with cerebral palsy, a language disorder, just different things that didn't complete her and the challenges she was facing," she said.
Without a true medical diagnosis, Anna Brooke's father, David Ainsworth, said, "We had trouble with the insurance companies not allowing more services. We just had a limited amount of service opportunities."
That can mean a certain number of doctor visits allowed by insurance and limited coverage for communication assistance technology and other aids. Miranda said when Anna Brooke was about 3 years old, "I noticed her pinkie finger was really small, and I know that correlates with a lot of genetic conditions."
That pinkie finger pointed them directly to a geneticist. But Ainsworth said that only lead to disappointment.
"Everything came back fine," she said.
Disappointed, their diagnostic odyssey continued until they met the researchers at HudsonAlpha.
Dr Gregory Cooper is leading the charge for children there.
"Anna Brooke and her parents were the first family that we enrolled in our clinical sequencing project," said Cooper.
Cooper and his team sequenced Anna Brooke's genome again but still found nothing.
Cooper says it's all part of the growing pains in this decade of discovery.
"We still have a lot of challenges as far as analyzing genetic data, in terms of understanding this ocean of raw data we get and extracting the very useful bits of it," he said.
But Cooper was persistent and so were others at HudsonAlpha. Like archaeologists, they kept digging for two years. They found new channels to network,to share and compare notes with other top researchers around the world.
"Geneticists, like everyone else, have been transformed by social media," said Cooper.
Anna Brooke was HudsonAlpha's first child to have her genome sequenced. Since then, hundreds of other children have been tested. HudsonAlpha has been looking for genetic misspellings, duplications and deletions,all in hopes of finding the errors and the answers to so many medical mysteries.
Persistence paid off.
"We eventually found that genetic variant," Cooper said.
"They ran her blood through again and found that she has Cornelia de Lange syndrome," said Anna Brooke's mom.
"It lined everything up. It made sense," said David Ainsworth.
Miranda went on to say, "It was like Christmas. We were elated. After nine years of not knowing what was going on, now we had an answer and we could move forward."
Miranda, David and Anna Brooke are moving forward.
So is HudsonAlpha.
In these last 10 years, besides major medical advancements in neurological diseases and cancers this nonprofit, it's stepping out into the physician's office and the maternity ward. The Smith Family Clinic, a free-standing medical clinic on the HudsonAlpha campus, is treating patients based on their DNA. And the institute is also going back to the beginning by sequencing sick babies in a handful of neonatal intensive care units.
"Historically, this sort of test was considered a last resort and we believe that it absolutely should be one of the first things that should be done. We're not too far from a world where your genome is part of your labor and delivery process. A baby is born and a genome sort of goes along for the ride," Cooper said.
Dr Shawn Levy, director of the HudsonAlpha sequencing lab, said,"It's really been, over the last four years, that genome sequencing has become routine."
Levy says these sequencers reveal the real "you."
He and his team run 1,000 tests a month and it's about to get much busier.
Levy runs the lab where these superhero sequencers reveal the real you. About 1,000 tests are done here every month.
"By the end of 2018, not 15,000 genomes a year, which is what we do now, but closer to 70,000 genomes a year," Levy said.
Seventy thousand genomes a year. This is our health care future, the next decade of discovery.
"I think what you will see in 10 years is the treatment of rare disease using DNA-based therapies, either in DNA-based drugs or in the editing of genomes," Levy said.
Editing? Your genome? That's right, fixing the flaws by editing with "molecular scissors." Theoretically, researchers would cut out the bad and replace it with the good.
"Truly, instead of giving a treatment, you're potentially giving a cure and that cure would be permanent," Levy said.
Levy and the others at HudsonAlpha are fueled daily by the many challenges they face. Some of the challenges are just not the genetics involved. It involves ethics and other.
"It's the software. The legal challenge of how do you protect that data," said Cooper.
Still, they feel rewarded by even the slightest new revelation, keeping their fingers in and their pulses on discovering more about diseases. They live for those light bulb moments that change a life or a little girl.
A little girl like Anna Brooke.
"I'm very happy with whatever progress we make. That's the dream I have for her. She will just do her best at whatever life brings," Miranda Ainsworth said.
Anna Brooke is speaking. She is reading. She is writing. Three things her parents never thought she could do.
Miranda is teaching her life skills too,not focusing on math but focusing on measuring. She's teaching her basic life skills like using the microwave, adding water to instant macaroni and cheese, cooking it and recognizing when it's fully cooked.
For the Ainsworth family, "For us, it had been such a long journey. We were thankful to have it all put together."
And it's important to note that Miranda and David are paying it forward. Miranda, being a trained and certified pediatric occupational therapist, opened a full- service practice with David. This not only is helping Anna Brooke, but so many more children and their families on what can be a long odyssey in discovering if their genes are to blame for their medical problems.
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