Copy Number Variants: A Window into Psychiatric Illness

The human genome consists of nearly 25,000 protein-coding genes – and a mutation in just one of these can have dramatic effects on our brains.  Remarkably, one tiny change in our genes (which can be as small as 0.000000025 cm!) can lead to visible changes in our behavior.  Schizophrenia, autism, bipolar disorder, and ADHD have all been linked to variations in our DNA.  But how do changes in our genetic code result in these complex psychiatric disorders?Continue reading

CRISPR-Cas9 Knowing Neurons

CRISPR-Cas9: Targeted Genome Editing

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Infographic by Jooyeun Lee and Kate Fehlhaber.

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References:

Hsu P. & Feng Zhang (2014). Development and Applications of CRISPR-Cas9 for Genome Engineering, Cell, 157 (6) 1262-1278. DOI: http://dx.doi.org/10.1016/j.cell.2014.05.010

Fineran P.C. (2014). Gene regulation by engineered CRISPR-Cas systems, Current Opinion in Microbiology, 18 83-89. DOI: http://dx.doi.org/10.1016/j.mib.2014.02.007

Doudna J.A. (2014). The new frontier of genome engineering with CRISPR-Cas9, Science, 346 (6213) 1258096-1258096. DOI: http://dx.doi.org/10.1126/science.1258096

From Stevens to Synapses: A Conversation with Kelsey Martin

martin_10_18Take your wildest guess.  How many neurons make up the human brain?  You’re not guessing wild enough if you said anything less than a trillion.  The circuitry of the human brain consists of a quadrillion (1015) synapses.  These neural circuits aren’t necessarily hard-wired and have the capacity to be re-wired in response to experience. In our interview with Dr. Kelsey C. Martin, Professor of Psychiatry and Biological Chemistry at University of California, Los Angeles, we discuss the long-lasting forms of plasticity that enable memories to be formed.  During the course of our conversation, Dr. Martin shares stories from her time in the Peace Corps. and discusses what it was like to study memory formation as a post-doc in the lab of the Nobel Prize winning scientist, Eric Kandel.  In this highly anticipated interview from Knowing Neurons, we sit down with Dr. Martin to get advice on what it takes to become a Principal Investigator, to discuss her upcoming Presidential lecture at SFN, and to find out exactly what this English major turned M.D./Ph.D. is currently reading.Continue reading

(Transneuronal) Attack of the Mutant Huntingtin! Knowing Neurons

(Transneuronal) Attack of the Mutant Huntingtin!

Huntington’s disease (HD) is an incredibly debilitating neurodegenerative disorder. Currently, there is no treatment that effectively reverses the progression of the disease or delays its onset. Huntington’s is a particularly difficult diagnosis because it is an autosomal dominant degenerative disease, meaning that any child of an affected parent has a 50% chance of inheriting the disease. Most children who inherit the disease have inevitably watched their parents battle with it.Continue reading

Zinc finger nucleases: genomic scissors via Knowing Neurons

Zinc Finger Nucleases: Genomic Scissors

The potential to manipulate DNA sequences and insert genes with the use of zinc finger nucleases (ZFNs) has huge implications for human genetic disease therapeutics.  One exciting example is a clinical trial that is using ZFN technology to disrupt the gene for the HIV co-receptor CCR5 and protect against the progression of HIV to AIDS.  As shown in the infographic below, ZFNs introduce DNA sequence changes into individual genes to create deletions, insertions, or base substitutions.  ZFN technology is a powerful tool that enables scientists to study the effects of these changes on gene function and may one day be used to treat human genetic disorders.Continue reading