The Supreme Court's ruling did not hand a clear victory to either party.(bobosh_t/Flickr)
Nicole D. Kling, PhD, is a patent specialist at Nixon Peabody LLP who focuses on patent prosecution in biotechnology, the life sciences and biomedical advances. David Resnick, JD, of Nixon Peabody contributed to this post. Opinions expressed in this article represent only those of the authors, not Nixon Peabody or its clients.
The recent ruling by the U.S. Supreme Court brought Association for Molecular Pathology v. Myriad Genetics back to the headlines, with interest being stoked by Angelina Jolie’s recent disclosure of her double mastectomy.
The lawsuit revolved around patents owned by Myriad related to its BRACAnalysis test, which assesses the likelihood that a person will develop certain cancers, including breast cancer, by searching the DNA for disease-causing sequences. The patents under focus in this lawsuit claim genetic sequences isolated from, or derived from, human DNA—molecules created by manipulating, changing or adding to the DNA.
Myriad argued that the molecules they claimed do not exist as such in human cells and are instead the result of human manipulation and innovation. Full story »
A “heat map” for autism gene expression (click to enlarge). Each row represents one of the 55 genes differently expressed in ASD patients vs. controls; columns show expression profiles for each of the 99 subjects. Genes in red have relatively increased gene activity; green, reduced activity. The bars along the bottom show how ASD patients vs. controls are distributed; overall, the ASD group has more genes over-expressed, while the control group has more down-regulated. The brackets at left connect genes that tend to be expressed together, while those along the top link individuals with similar gene expression patterns.
Though autism can respond well to early behavioral interventions, it’s typically not diagnosed in the U.S. until around age 5, when these interventions are less effective. Autism is diagnosed based on a child’s behaviors and language, which take time to develop to the point where clinicians can reliably assess them. What’s really needed is a fast, objective test when a child is much younger, before symptoms even show up.
In the past decade, researchers have chipped away at the problem, linking more than a dozen genetic mutations to autism—from small DNA “spelling” changes to lost or extra copies of a gene or genes (known as copy number variants) to wholesale chromosome abnormalities. Tests have been created, such as the chromosomal microarray test. But together, the known mutations account for, at best, 1 in 5 autism cases among tested patients. Full story »
It’s been more than a decade since the Human Genome Project cracked our genetic code. DNA sequencing is getting cheaper and cheaper. So why isn’t it being used every day in medicine?
The truth is that while we have the technology to blow apart a patient’s DNA and piece it back together, letter by letter, and compare it with normal “reference” DNA, doctors don’t really know what to do with this information. How much of it is really relevant or useful? Should they be giving it back to patients and their families, and how?
Handled badly, the information could do more harm than good. “We don’t want to scare patients for no reason, or for the wrong reason,” says Isaac Kohane, MD, PhD, who chairs the Children’s Hospital Informatics Program.
Seeking a set of best practices for safe, clinically useful genomic sequencing, Boston Children’s Hospital took a crowd-sourcing approach. Full story »
Mary Elizabeth Stone and her son John, with genetic counselor Meghan Connolly and Pankaj Agrawal, principal investigator of the Gene Discovery Core. (Courtesy ME Stone)
Sequencing a patient’s genome to figure out the exact source of his or her disease isn’t standard operating procedure — yet. But falling sequencing costs and a growing number of successes are starting to bring this approach into the mainstream, helping patients and families while advancing a broader understanding of their diseases.
The Stone family is a case in point. When John and Warren Stone were born, their parents were envisioning life raising identical twins, when suddenly everything changed. On their second day of life, the twins started to have seizures with stiffening of their arms and legs; more alarmingly, they would stop breathing from time to time, requiring a ventilator to help them breathe. Further work-up revealed that both John and Warren were having persistent seizures consistent with Ohtahara syndrome, a rare, debilitating seizure disorder.
Warren died a few weeks later, and the family transferred John’s care to Boston Children’s Hospital. An extensive clinical and genetic work-up here and at several other hospitals involved in his care — including sequencing all the genes known to cause Ohtahara syndrome – identified no cause for John’s unique seizures. Full story »
Finding the genetic cause of a non-inherited disorder is a challenge--especially when the gene is abnormal in only some of a person's cells.
How do you find the genetic cause of a disease that doesn’t appear to be inherited, presents with a variety of symptoms—and has been diagnosed in just a few hundred people worldwide? Add to that the fact that the genetic defect occurs in only a portion of a patient’s cells, and a formidable challenge emerges.
As a team of researchers from Boston Children’s Hospital has discovered, and as is true in many rare diseases, depth and breadth of clinical experience can prove pivotal.
It all started in 2006. That’s when, after poring over years’ worth of patient records and photos, Ahmad Alomari, MD, an interventional radiologist at Boston Children’s and co-director of its Vascular Anomalies Center, defined a condition he called CLOVES syndrome. CLOVES is complex and looks somewhat different in every patient, causing a combination of vascular, skin, spinal and bone or joint abnormalities. It’s a rare and progressive disease for which no known cure or “one-size-fits-all” treatment exists. Full story »
Even a small idea, given a small boost, can have a high impact. (Rick Kimpel/Flickr)
When I tell people I work at the Technology and Innovation Development Office at Children’s (TIDO), they usually think I work to commercialize patented blockbuster drug candidates. But many of the most satisfying projects I help promote are innovations that don’t involve as much risk, time and investment, yet make a big difference for patients. Commercializing these innovations can help the greater good, and is part of what propels me to work at a licensing office at a pediatric hospital.
And sometimes it doesn’t take much to help them along.
The Sonnewheel Body Mass Index Calculator and the Vidatak communications board for patients unable to speak or write are some products supported by TIDO without income being the primary goal. Another great example, which we blogged about recently, is helping make routine blood draws less stressful for kids with learning differences and their parents.
As an Ashkenazi Jew planning to have a baby, I sure as heck wanted carrier screening for Tay-Sachs disease. But that disease is incurable and lethal. What about diseases that don’t severely limit lifespan and aren’t that disabling? During my pregnancy, I went on to have amniocentesis, which included testing for Down syndrome and – because of my family history — for a few genes associated with autism and mental retardation. But even as I was tested, I had no idea what I’d do if results came back positive.
Babies with galactosemia cannot properly break down the sugar galactose.
For babies born with galactosemia, the simple act of feeding can be deadly. In this rare inherited disease, infants are deficient in an enzyme known as GALT, leaving them unable to metabolize galactose, a sugary byproduct of lactose found in milk and other dairy foods. Instead, galactose builds up and wreaks havoc. If the condition isn’t caught at birth and treated with a lactose-free diet, infants can develop cataracts, brain swelling and organ failure and die within the first few weeks of life.
However, some babies do have enough enzyme to keep the levels of this sugar down, and have a much milder ”variant” form of the disease. The trouble is, the existing newborn screening test cannot always distinguish these children from those with the more severe form of the disease. Full story »
Will complacency allow patent protections to come apart?
The merits of “gene patents” – patents directed to DNA sequences including disease-associated mutations — have been debated for years: Do they stifle genetic research, or promote it? Are gene patents essential for the commercialization of genetic testing? Do they raise the cost of medical care? As a patent attorney with a focus in the life sciences, I find that these questions are being raised more frequently now. Why? What’s happened? In a word, ACLU v. Myriad Genetics. Full story »
