Science & Research

Study on aging looks at sequence changes over time

HUNTSVILLE, Ala. -- A recent study of the effects of age on DNA sequences in blood cells suggests the human genome undergoes more changes during a person’s lifetime than previously thought.  
 
As cells divide, the DNA sequence inherited from parents has to be copied. This process can lead to mutations in the DNA sequence, and some of these mutations involve large segments of chromosomes that have been deleted or duplicated in the newly divided cells. 

According to Devin Absher, Ph.D, faculty investigator at HudsonAlpha Institute for Biotechnology and co-author of a recent publication on aging, the number of these large mutations increases as we age. "Even more surprising," said Absher, "the accumulation of these large mutations is much more dynamic than we anticipated. Some mutations can rise and fall in frequency in blood cells over decades within an individual."

Collaborative project between Myers lab and Epicentre featured in Genome Research

News Outlet: 
Genome Research
Date published: 
December 1, 2011
Download PDF: 

A collaborative effort between Epicentre and the HudsonAlpha Institute for Biotechnology resulted in the development of two novel transposon-based methods for RNA-Seq library preparation. The technique, called Tn-RNA-Seq, can use double-stranded cDNA created from rRNA-depleted RNA to prepare an Illumina sequencing library using only two enzymatic reactions. The researchers generated high-quality RNA-Seq libraries from as little as 10 pg of mRNA (~1 ng of total RNA) with this approach.

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HudsonAlpha and University of Michigan awarded $7.8 million to study bipolar disorder

The National Institute of Mental Health has awarded the HudsonAlpha Institute for Biotechnology and the University of Michigan grant monies totaling $7.8 million to identify genes and pathways that contribute to the risk for bipolar disorder.

Reduced representation bisulfite sequencing characterizes genotypic influence on methylation

News Outlet: 
Genomeweb In Sequence
Date published: 
August 23, 2011

By Andrea Anderson
 
Using an approach called reduced representation bisulfite sequencing to simultaneously gauge genome-wide DNA methylation and sequence patterns in three generations of family members, researchers have found evidence that genotype has a more widespread influence on DNA methylation patterns than previously appreciated.

New genomic techniques shed light on how cheetahs get their spots

Solving natural mysteries may often reveal new principles and mechanisms relevant to biology and human health. Work recently published by Greg Barsh, M.D., Ph.D, a faculty investigator at the HudsonAlpha Institute, and colleagues from around the world describes how cutting-edge technology originally developed for human genome sequencing can be adapted to better understand the basis of natural color patterns.

Needles in stacks of needles: HudsonAlpha researcher reviews understanding of genomics and disease

As of August 2011, there have been over a thousand studies testing for association between single nucleotide changes across the human genome and disease. Thousands of single variants have been reported to be associated with over 200 diseases or traits.
 
So, just how do researchers follow up on a single variant to see if it really means anything related to a disease?

HudsonAlpha genomicist refines focus on developmental delays

Study promotes improved diagnostics for severe pediatric disease
HUNTSVILLE, Ala - A study of almost 16,000 children with intellectual disability and various congenital defects is providing insight to more precise connections to anomalies in the genome.  Greg Cooper, Ph.D., a faculty investigator at the HudsonAlpha Institute for Biotechnology, together with colleagues at the University of Washington in Seattle, and a dozen other organizations, identified 59 potentially pathogenic copy number variants and associated genes that appear to be linked to such disorders. The paper is currently available in the online version of Nature Genetics.

Multigenerational study emphasizes importance of genome sequence in gene regulation

HUNTSVILLE, Ala - Research at the HudsonAlpha Institute for Biotechnology and Duke University, published in PLoS Genetics, uses genome-wide sequencing in families to demonstrate that the sequence of human DNA contributes much more to its own regulation than had been believed. 

HudsonAlpha researchers demonstrate sporadic mutations may be responsible for half of schizophrenia cases

HUNTSVILLE, Ala. - Although it affects less than 1 percent of the global population, schizophrenia exacts a large toll in terms of expense and human suffering.  A new study from researchers at the HudsonAlpha Institute for Biotechnology, with colleagues from Columbia University in New York and the University of Pretoria in South Africa, indicate non-familial genetic mutations may account for about half of schizophrenia cases.
 

Commentary

For many years, scientists believed that our DNA was faithfully transcribed into a messenger called RNA, and that RNA was faithfully translated into the proteins that make up our cells.  The new study from Penn uses technology developed in the last few years, and implemented at HudsonAlpha as well, to show that our RNA is not always identical to our DNA.  This introduces a new source of genetic variation for scientists to study when looking for causes of human disease.  This is a potentially “textbook-rewriting” finding. HudsonAlpha uses the same technique used to find the RNA: DNA differences, known as RNA-sequencing, in a number of different studies. Our labs have already generated large amounts of data which we can use to examine these differences, and any effects they have in genomic causes of disease and response to treatments.
--Dr. Chris Gunter, director of research affairs, HudsonAlpha
Researchers uncover a new level of genetic diversity in human RNA sequences
Cells may stray from 'central dogma'

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