Searching for Genetic Clues in Autism with Family Trio Sequencing

StartCodon
La Jolla, California
BiologyMedicine
Open Access
DOI: 10.18258/4764
$2,300
Raised
131%
Funded on 5/01/15
Successfully Funded
  • $2,300
    pledged
  • 131%
    funded
  • Funded
    on 5/01/15

About This Project

Autism is a complex condition, but recent research shows that genetics may play a larger role than previously thought. Today, genetics explains the underlying cause of autism for about one in five individuals. Family trio sequencing is a powerful technique that can explain genetic conditions by looking at differences in DNA between Mom, Dad and an affected child.

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What is the context of this research?

Recent research from twins with autism suggests that genomics plays a larger role than previously expected. It turns out that genetics explains the underlying cause for about 20% of people with an autism spectrum condition. Trio sequencing and bioinformatics analysis software lets us look for genomic differences in family members. What's missing is information that explains how families can use personal genomics for these analyses.

What is the significance of this project?

This work is critical because it demonstrates how families can use their own personal genome information to explore (potentially unexplained) health conditions.

What are the goals of the project?

The goal of the project is to explore the genetic basis of our daughter's condition I will be presenting this research as part of a short course on personal genomics at The Clinical Genome Conference in June.

Budget

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Stretch Goal: We are raising an additional $2,500 to cover the publication of our results in an open access journal. Read more in this Lab Note. Thank you for your continued support in our final stretch!

Funded Goal: Your generous donation will be used to obtain the entire DNA sequence of our adult-aged daughter. She has agreed to participate in this project that will examine the underlying genetic cause of her condition. Mom and Dad both had their whole genomes sequenced last year, and the addition of her whole genome sequence will permit a differential genomic analysis.

GoldenHelix has generously donated use of VarSeq, the analysis software that will be used in this project. I will present the findings from this research at a short course at The Clinical Genome Conference in June 2015. Each project backer will receive a copy of the presentation, as well as a thank you note for your donation.


Meet the Team

KT Pickard
KT Pickard

Team Bio

In the 1990's, I learned about bioinformatics as a software engineer at MasPar, a company that sold supercomputers used in the Human Genome Project. Since then, I have spent twenty years with various medical imaging companies, mainly connecting clinical images with electronic health records.

In 2005, I had an aha! moment after reading this Scientific American article by George Church. He said that biotechnology would be realized when the cost of genome-reading technology was as inexpensive and accessible as personal computers. Shortly afterwards, I began work on an MBA and finished research on the $1,000 genome in 2009. Since then, I've been immersed in genomics and its implications for precision medicine. I blog about genomics, health information sharing and open science at genomedad.com.

KT Pickard

K. Thomas Pickard (KT) is a medical imaging veteran with 20 years of healthcare experience. His career includes six early-stage startups, including leadership roles at Lexmark Healthcare, Emageon, eMed Technologies and Thinking Machines. In 2013, he founded StartCodon, a nonprofit promoting neurodiversity in biotechnology and life sciences. His work in personal genomics also includes research in consumer-directed health information sharing. KT has an MBA degree from St. Mary's College of California.

Press and Media

Additional Information

We will be using VarSeq software from GoldenHelix, which lets you quickly zero-in on genomic variants of interest. The GenomeBrowse app shown below displays DNA information at multiple scales, from chromosomes all the way down to the base pair level (ACGT).



Project Backers

  • 16Backers
  • 131%Funded
  • $2,300Total Donations
  • $152.67Average Donation
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