


When the children were 6, doctors diagnosed them with a relatively rare genetic disorder. Treatment helped but did not cure them. When Alexis was 12 she stopped breathing and almost died. Paramedics had to revive her twice.

Until the dawn of the era of personalized medicine, this is where the story would have ended, in likely tragedy.


This finally identified the problem: a genetic twist on a rare disease. With a slight alteration to their medical treatment, the twins — now 14 — are as active as any others their age.


A promise finally realized


And the success experienced by the Beery family likely signals that the promise of personalized medicine, powered by physicians being able to read the genetic codebook of human disease, eventually will be realized.

"If you ask me, this is practicing personal genomics," said Dr. Jim Lupski, the Baylor physician who helped analyze the Beery genomes.

"I don't want it to come out as hype, because we don't need hype," Lupski said. "We have a lot of work to do, and a lot to understand about genetics and medicine. We have a few decades yet of filling in the Rosetta Stone.


Noah and Alexis were born colicky. They cried and screamed night and day and threw up daily. By their 9-month checkup they were far behind the normal development milestones.


Retta Beery continued to research their condition, and the daily timing of Alexis' symptoms gave her the clue that eventually led the family to neurologist Dr. John Fink at the University of Michigan.

When the twins were nearly 6 the family traveled to Michigan, where Fink diagnosed the children with the genetic disease dopamine-responsive dystonia. This can be treated with a synthetic form of dopamine, a neuro­transmitting chemical.


Alexis and Noah made remarkable recoveries, beginning to live the normal lives their parents had dreamed of, playing sports and excelling in school.


3 billion bits of data


Retta's husband, Joe, worked for a biotechnology company and suggested they look into genetic sequencing. She eventually linked up with Baylor, which has one of the world's largest genetic sequencing labs, and Texas Children's Hospital.

Baylor's Matthew Bainbridge led the effort to sequence the family genomes. After reading out every one of the 3 billion bits of data in each DNA sequence, the researchers found that the twins had neither of the two gene mutations known to cause dopamine-responsive dystonia.

But scientists found three related genetic abnormalities that might cause the disease, and one of these mutations led them to conclude that Alexis and Noah were deficient in serotonin, another neurotransmitter, in addition to dopamine.


Eight years of work

It's been eight years since the completion of the Human Genome Project, but only one year since the first time geneticists sequenced a person's entire genome to identify the genetic cause of a disease. This occurred when Baylor identified the gene mutation that caused an illness that afflicted Lupski, the Baylor physician.

The new work takes that a step forward by using a whole genome sequence to improve medical therapy.


A glimpse into future

It's been a struggle to take the human genome's raw data and change medical care. Since the first genome's completion, scientists have discovered that the role of genetics in human health is more complicated than they had anticipated.


Yet Gibbs said geneticists are beginning to grasp the whole picture of genetics and disease, and the Beery family's success provides a glimpse of the future of medicine.
