Not so long ago, Hilary Finucane was a talented young mathematician about to complete a master’s degree in theoretical computer science. As much as she enjoyed exploring pure mathematics, Finucane had begun having second thoughts about her career choice. She wanted to use her gift for numbers in a way that would have more real-world impact.
The solution to her dilemma was, literally, standing right by her side. Her husband Yakir Reshef, also a mathematician, was developing a new algorithm at the Broad Institute of MIT and Harvard, Cambridge, MA, to improve detection of unexpected associations in large data sets. So, Finucane helped the Broad team with modeling biomedical topics ranging from the gut microbiome to global health. That work led to her co-authoring a paper in the journal Science , providing a strong start to what’s shaping up to be a rewarding career in computational biology.
Chances are you know someone with obsessive-compulsive disorder (OCD). It’s estimated that more than 2 million Americans struggle with this mental health condition, characterized by unwanted recurring thoughts and/or repetitive behaviors, such as excessive hand washing or constant counting of objects. While we know that OCD tends to run in families, it’s been frustratingly difficult to identify specific genes that influence OCD risk.
Now, an international research team, partly funded by NIH, has made progress thanks to an innovative genomic approach involving dogs, mice, and people. The strategy allowed them to uncover four genes involved in OCD that turn out to play a role in synapses, where nerve impulses are transmitted between neurons in the brain. While more research is needed to confirm the findings and better understand the molecular mechanisms of OCD, these findings offer important new leads that could point the way to more effective treatments.
Tags: ASD, autism, Autism Spectrum Disorder, brain, citizen science, compulsive behavior, CTTNBP2, Darwin's Dogs, DNA, DNA sequencing, Doberman Pinscher, dogs, gene variants, genomics, German Shepherd, HTR2A, Jack Russell terrier, mental health, mental illnesses, neurology, non-coding DNA, NRXN1, obsessive-compulsive disorder, OCD, pets, REEP3, regulatory elements, repetitive thoughts, serotonin, serotonin reuptake inhibitors, Shetland Sheepdog, SSRI, synapse
Science has always fascinated Anshul Kundaje, whether it was biology, physics, or chemistry. When he left his home country of India to pursue graduate studies in electrical engineering at Columbia University, New York, his plan was to focus on telecommunications and computer networks. But a course in computational genomics during his first semester showed him he could follow his interest in computing without giving up his love for biology.
Now an assistant professor of genetics and computer science at Stanford University, Palo Alto, CA, Kundaje has received a 2016 NIH Director’s New Innovator Award to explore not just how the human genome sequence encodes function, but also why it functions in the way that it does. Kundaje even envisions a time when it might be possible to use sophisticated computational approaches to predict the genomic basis of many human diseases.
Tags: 2016 NIH Director’s New Innovator Award, Alzheimer’s disease, artificial neural networks, cancer, colorectal cancer, computational genomics, computer science, DNA, DNA elements, ENCODE, epigenomics, gene function, gene variants, genomics, heart disease, machine learning, MYC, noncoding DNA, Roadmap Epigenomics Project, transcription factor, yeast
Most neurological and psychiatric disorders are profoundly complex, involving a variety of environmental and genetic factors. Researchers around the world have worked with patients and their families to identify hundreds of possible genetic leads to learn what goes wrong in autism spectrum disorder, schizophrenia, and other conditions. The great challenge now is to begin examining this growing cache of information more systematically to understand the mechanism by which these gene variants contribute to disease risk—potentially providing important information that will someday lead to methods for diagnosis and treatment.
Meeting this profoundly difficult challenge will require a special set of laboratory tools. That’s where Feng Zhang comes into the picture. Zhang, a bioengineer at the Broad Institute of MIT and Harvard, Cambridge, MA, has made significant contributions to a number of groundbreaking research technologies over the past decade, including optogenetics (using light to control brain cells), and CRISPR/Cas9, which researchers now routinely use to edit genomes in the lab [1,2].
Zhang has received a 2015 NIH Director’s Transformative Research Award to develop new tools to study multiple gene variants that might be involved in a neurological or psychiatric disorder. Zhang draws his inspiration from nature, and the microscopic molecules that various organisms have developed through the millennia to survive. CRISPR/Cas9, for instance, is a naturally occurring bacterial defense system that Zhang and others have adapted into a gene-editing tool.
Tags: 2015 NIH Director’s Transformative Research Award, Autism Spectrum Disorder, bioengineering, brain, brain research, Cpf1, CRISPR, CRISPR-Cas, CRISPR/Cas9, gene editing, gene variants, genomics, laboratory tools, neural organoid, neurobiology, neurological disease, neurological disorders, neurology, optogenetics, organoid, psychiatric disorders, schizophrenia, stem cells