Research Menu
Ivan Iossifov

Ivan Iossifov

Associate Professor

Ph.D., Columbia University, 2008

iossifov@cshl.edu | (516) 367-6947 (p)

Every gene has a job to do, but genes rarely act alone. Biologists have built models of molecular interaction networks that represent the complex relationships between thousands of different genes. I am using computational approaches to help define these relationships, work that is helping us to understand the causes of common diseases including autism, bipolar disorder, and cancer.

Ivan Iossifov focuses on the development of new methods and tools for genomic sequence analysis and for building and using molecular networks, and he applies them to specific biomedical problems. He studies the genetics of common diseases in humans using two main tools: next-generation sequencing and molecular networks representing functional relationships among genetic loci. These approaches in combination enable the kind of large-scale studies necessary for furthering our understanding of the complex etiology of disorders such as autism, bipolar disorder, and cancer.

    Portrait of a Neuroscience Powerhouse

    Portrait of a Neuroscience Powerhouse

    April 27, 2018

    At noon every Tuesday from September through June, scenes from a revolution in neuroscience are playing out at Cold Spring Harbor Laboratory. Week after week, over 100 scientists cram themselves into a ground-floor meeting room in the Beckman Laboratory. It’s standing-room only as everyone in the Neuroscience Program settles in to hear details of the...


    Autism genetics study calls attention to impaired motor skills, general cognitive impairment

    Autism genetics study calls attention to impaired motor skills, general cognitive impairment

    February 7, 2018

    Cold Spring Harbor, NY — A new study of the genetic factors involved in the causation of autism spectrum disorders (ASD) draws fresh attention to the impact these illnesses have on motor skills, and more broadly on cognitive function. “Diminished motor skills appear to be an almost universal property of children with autism,” says Professor...


    Why is autism more common in boys?

    Why is autism more common in boys?

    April 29, 2016

    LabDish blog Boys diagnosed with autism far outnumber their female counterparts. Autism genetics researcher Ivan Iossifov lays out what research into the disorder’s genetic basis reveals about the reasons for this striking pattern. Many of the numbers pegged to autism are staggering. By some estimates, as many as 1 in 68 children lies somewhere along...


    What do autism “risk genes” do?

    What do autism “risk genes” do?

    April 21, 2016

    LabDish blog Autism’s genetic roots are notoriously tricky to untangle, but researchers are beginning to understand how particular genes may contribute to the disorder. Among those researchers is CSHL’s Ivan Iossifov. For some disorders, genetics explains everything. Hemophilia is a good example: the abnormally profuse bleeding associated with it is neatly accounted for by a...


    How many autism “risk genes” have scientists found?

    How many autism “risk genes” have scientists found?

    April 14, 2016

    LabDish blog Autism genetics researchers are building up a list of autism “risk genes” by looking into the genomes of families affected by the disorder. CSHL’s Ivan Iossifov is one of the researchers leading the charge. “We actually have a list of genes about which we are very confident,” says Iossifov. “To be able produce...


    Where does autism come from when it doesn’t run in the family?

    Where does autism come from when it doesn’t run in the family?

    April 7, 2016

    LabDish blog Autism genetics expert Ivan Iossifov breaks down recent research that sheds light on how unaffected parents can pass autism onto their child. Parents with no history of autism in their families have a child who is diagnosed with the disorder. It’s a common and upsetting story. A quick Google search for “autism causes” is...


    Genetic analysis supports prediction that spontaneous rare mutations cause half of autism

    Genetic analysis supports prediction that spontaneous rare mutations cause half of autism

    September 22, 2015

    Quantitative study identifies 239 genes whose “vulnerability” to devastating de novo mutation makes them priority research targets Cold Spring Harbor, NY — A team led by researchers at Cold Spring Harbor Laboratory (CSHL) this week publishes in PNAS a new analysis of data on the genetics of autism spectrum disorder (ASD). One commonly held theory...


    New study casts sharpest light yet on genetic mysteries of autism

    New study casts sharpest light yet on genetic mysteries of autism

    October 29, 2014

    Our picture of how genetic errors contribute to autism has just gotten sharper. Cold Spring Harbor, NY — Our picture of how genetic errors contribute to autism has just gotten sharper. The latest series of clarifications in what, in its totality, is a very complex puzzle, emerges from new research published in Nature today by...


    A shift in the code: new method reveals hidden genetic landscape

    A shift in the code: new method reveals hidden genetic landscape

    August 18, 2014

    Scientists develop algorithm to uncover genomic insertions and deletions involved in autism, OCD Cold Spring Harbor, NY — With three billion letters in the human genome, it seems hard to believe that adding a DNA base here or removing a DNA base there could have much of an effect on our health. In fact, such...


Rodriguez-Esteban, R. and Iossifov, I. (2009) Figure mining for biomedical research. Bioinformatics, 25(16) pp. 2082-2084.

Liu, J. and Ghanim, M. and Xue, L. and Brown, C. D. and Iossifov, I. and Angeletti, C. and Hua, S. and Negre, N. and Ludwig, M. and Stricker, T. and Al-Ahmadie, H. A. and Tretiakova, M. and Camp, R. L. and Perera-Alberto, M. and Rimm, D. L. and Xu, T. and Rzhetsky, A. and White, K. P. (2009) Analysis of Drosophila segmentation network identifies a JNK pathway factor overexpressed in kidney cancer. Science, 323(5918) pp. 1218-22.

Iossifov, I. and Zheng, T. and Baron, M. and Gilliam, T. C. and Rzhetsky, A. (2008) Genetic-linkage mapping of complex hereditary disorders to a whole-genome molecular-interaction network. Genome Res, 18(7) pp. 1150-62.

Cokol, M. and Iossifov, I. and Rodriguez-Esteban, R. and Rzhetsky, A. (2007) How many scientific papers should be retracted?. EMBO Rep, 8(5) pp. 422-3.

Rodriguez-Esteban, R. and Iossifov, I. and Rzhetsky, A. (2006) Imitating manual curation of text-mined facts in biomedicine. PLoS Comput Biol, 2(9) pp. e118.

Additional materials of the author at
CSHL Institutional Repository