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Issue link: https://clinicalomics.epubxp.com/i/853204
4 Clinical OMICs July/August 2017 www.clinicalomics.com News tified person with a condition. Many of these patients, like Susannah, are children. There is often not much known about these diseases, and as a result, many do not yet have a cure. However, with inputs from individuals with a wide range of medical expertise, as well as additional in-house research, patients can receive novel, individual- ized treatments for specific conditions underlying the disease. "What the DISCOVER program has really taught us is that with a disease that there's not much known about at all, what we can do is treat the lit- tle diseases within the big disease," Luke said. For Susannah, this means that while doctors cannot yet cure her condition, they can help control some of her symptoms, which include seizures, spasticity, and optic nerve atrophy. "I would say that the humbling part of this is that we still don't have treatments for all of these conditions, but there are many patients who have gotten at least symptomatic relief from portions of what bothers them," Dr. Chung said. "So we're certainly far from having it all figured out, but we've made some important progress for the families." Another goal of the DISCOVER program is connecting patients with others in the world with the same rare disorder. Susannah's family, for exam- ple, has been able to connect with more than 20 other families around the world whose children have the same condition. Dr. Chung and her team also orga- nized a family meeting where they collected all the available data on the KIF1A mutation and presented it to patients and their families in an acces- sible manner. "Every single one of the families walked away with some- thing they could refer to about the dis- ease—an actual, tangible, something," Luke recalls. "It was something that we could refer to, something that we could [use] to say, hey, this is what is wrong with our kids, can you help us." Since its inception, hundreds of patients have come through the DIS- COVER program. The team sees around two families each week, and Dr. Chung hopes to scale-up the pro- gram in the future in order to help more people in need. "Dr. Chung has described herself as our Sherpa, one that guides us up this mountain that is seemingly insur- mountable, and is with us every step of the way, and all the while she's fig- uring out things that nobody else is figuring out," Luke said. "And she's coming up with these strategies to treat our kids and to improve not just quality of life, but [she also believes] that there is an opportunity to cure to these kids." Though Susannah is still waiting for a cure, Luke has since put his career as a playwright on hold to start a non-profit for KIF1A. With the help of Chung and her team, the organiza- tion's website has become an invalu- able resource for other patients with KIF1A genetic disorder. "No matter what, it doesn't change that it's a devastating thing to hear that your child has this disease," Luke said. "But it is reassuring to know that there's a whole group of people that are working to find out what it is, to improve our quality of life, and who are just completely invested in the kids." (continued from previous page) Scientists Develop Chip- Based Platform to Scan DNA for Off-Target CRISPR Effects Scientists from the University of Texas at Austin took an important step toward safer gene-editing cures for life-threaten- ing disorders, from cancer to HIV to Hun- tington's disease, by developing CHAMP, which stands for chip-hybridized asso- ciation-mapping platform. It repurpos- es next-generation sequencing chips to enable the massively parallel profiling of protein–nucleic acid interactions. The scientists used CHAMP to provide the first comprehensive survey of DNA recognition by a type I-E CRISPR/Cas (Cascade) complex and Cas3 nuclease. CHAMP, the scientists showed, was able to simultaneously measure the interactions between proteins and ~107 unique DNA sequences. "Analysis of mutated target sequences and human genomic DNA reveal that Cas- cade recognizes an extended protospacer adjacent motif (PAM)," wrote the authors of the article "Massively Parallel Biophys- ical Analysis of CRISPR-Cas Complexes on Next Generation Sequencing Chips," which appeared in the journal Cell. "Cas- cade recognizes DNA with a surprising 3-nt [nucleotide] periodicity. The identity of the PAM and the PAM-proximal nucle- otides control Cas3 recruitment by releas- ing the Cse1 subunit." Molekuul / Getty Images (continued on page 6)