The story of a boy and girl, twins who suffered through disabling muscle spasms and were misdiagnosed for several years, has a happy ending thanks to DNA research.
Noah and Alexis Beery are now 15 years old. I met them at CES in the Life Technologies booth. This is the story they told me. Alexis had a history of her foot turning in, which is compatible with the twisting muscle component of her disorder. She said her eyes turned up inside her head rather than looking forward. Noah told of stomach problems causing him to vomit frequently. The first inaccurate diagnosis of cerebral palsy was not sufficient to solve or treat their problems. DNA sequencing found the answer. A simple answer really, though hard to arrive at: malfunctioning dopamine, common in the more familiar Parkinson?s Disease.
Their disease has a name now, dopa-responsive dystonia. Dystonia comes in many forms. Like diabetes, there is an early-onset form generally caused by a specific mutation in the DYT1 gene. This affected the young Beery?s. Another form is caused by mutations in the GTP cyclohydrolase 1 gene (GTP-CH1). One test in the search for answers was analysis of a cerebrospinal fluid sample obtained via lumbar puncture.
Alexis and Noah Beery talked with BSN* at CES 2012
Professionals prescribed appropriate medication for Alexis that relieaved her severe symptoms. They hesitated to medicate Noah because they didn?t think the vomiting was related. Then, he began to exhibit more of the same muscle involvement that had plagued his sister, so they put him on a similar pharmaceutical regime. To the doctor?s surprise, he said, the vomiting also went away. Both children are healthy, normal teenagers now. Amazingly, Alexis said even after all the testing, being poked and prodded, she is not afraid of needles.
Their father?s background, family concerns, and interest in DNA analysis were the impetus for the discovery of his children?s accurate diagnosis. Joseph Beery has worked as a software engineer, been employed at Motorola Semiconductor and by the biotech firm Invitrogen that merged to become Life Technologies. Life Technologies identifies itself as a global biotechnology company dedicated to improving the human condition. In the case of Noah and Alexis, the technology they pursue certainly did improve their situation.
This little chip does big things
I was handed a sample chip, the small ION 314x and told it runs DNA in two hours. The hope is that DNA analysis holds the potential for more accurate diagnoses. An unrelated project called Phylo is striving towards the same end. Beery, now Chief Information Officer at Life Technologies, says: "I think in sequencing, having the ability to identify this problem [that his children experienced] right after birth [rather than almost six years later] would have been… life changing…"
Life Technologies manufactures both molecular diagnostic and research-use-only products. They make software, instrument systems, and a broad range of reagents. They hold nearly 4,000 patents and exclusive licenses. Their customers include companies involved in molecular medicine, stem cell based therapies, food safety, animal health, and forensics. The complex issues they are involved with include Polymerase Chain Reaction (PCR), cell culture, ribonucleic acid (RNA) interference analysis, and functional genomics research.
The traditional and expensive way of mapping genes uses high-powered microscopes. In contrast, semi-conductor technology used by Life Technologies is much cheaper and faster. Rob Bennett, VP of R&D has reiterated that the technology can sequence a genome in hours instead of days or weeks.
The Pesonal Genome Machine with the ION Torrent Chip sequences DNA faster than ever
Their brochure claims that by increasing the density of wells in each generation of chips, Ion Torrent sequencers realized a 100-fold increase in speed and throughput in just their first year. With up to 1.3 million wells per chip, the Ion Torrent 314 enables a direct connection between chemical and digital information. The kit goes for $792 USD. It detects polymerase-driven base incorporation and translates this information into digital form on the Personal Genome Machine platform which sells for a mere $49,500. Their latest release, the ION 318 which looks essentially the same as its predecessor has over 11 million wells and has increased throughput.
Life Technologies has a social conscience as indicated by its sponsorship of the movie premier of Conviction and encourages the efforts of the Innocence Project and their use of DNA to exonerate those wrongly convicted of crimes. In the animal kingdom, Life Technologies? DNA tools are helping boost the population of cheetahs which are highly susceptible to disease and reproductive health problems.
This diverse company and the stories it can tell are a must reading for futurists, and the future is now.