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\title{We are Richard Gibbs, Director of the Human Genome Sequencing Center at
Baylor College of Medicine, and Stacey Gabriel, Senior Director of the
Broad Institute's Genomics Platform. We study genetic variation using
DNA sequencing, AUA!}



\author[1]{Dr_Richard_Gibbs }%
\author[1]{r/Science AMAs}%
\affil[1]{Affiliation not available}%


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  \date{April 24, 2026}


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\begin{abstract}
Hi Reddit! I am Richard Gibbs, a human geneticist, who researches
genetic variation using DNA sequencing at the Human Genome Sequencing
Center at Baylor College of Medicine. Human genetic diseases are usually
dichotomized -- contrasting disorders caused by rare, single gene
defects that are mainly found in children (such as Mendelian diseases)
versus adult, common complex diseases that have can have subtle genetic
contributions from multiple changes (such as cardiovascular disease,
neurodegenerative diseases, and immunological diseases). My team works
to build better ways to sequence and interpret genomes, to translate
that technology into the clinic and to better understand the link
between rare and common disease. I believe that we are experiencing a
social revolution by the propagation of the knowledge and awareness of
genetics and genomics in society. I will be back at 1 pm ET (10 am PT, 6
pm UTC) to answer your questions, ask me anything! I am Stacey Gabriel,
I have worked at the Broad Institute (formerly the Whitehead Genome
Center) for the last 17 years. I joined the Broad after completing my
Ph.D. in Human Genetics at Case Western Reserve University where I
discovered genes for a congenital disorder, Hirschsprung Disease. This
work drove my interest in disease gene discovery via human genetics and
with an ultimate desire to drive discovery in more common diseases like
cancer, diabetes, heart disease, and others. During my time I have led
the Broad's contribution to several important international efforts to
build genomic resources to enable disease gene research. These include
the Human Hap Map project, The Cancer Genome Atlas, the 1000 Genomes
Project and the NHLBI Exome Sequence Project. I also serve as a
Co-Principle Investigator (along with Eric Lander) on a very large grant
from the National Genome Research Institute which has established us
over the past 25 years or so as a Large-scale Sequencing Center. We
operate one of the world's largest fleets of MPS (massively parallel
sequencing) DNA sequencers, generating data for \textasciitilde{} one
new human genome every 15 minutes! This data is used by researchers at
the Broad and all over the world to make discoveries about human
disease, the human genome, and hopefully will fuel initiatives like the
President's Precision Medicine Initiative. I will be here answering your
questions for about an hour starting at 2:30 pm ET (11:30 am PT, 7:30 pm
UTC). Richard Gibbs here (1,30 pm ET): thanks for some terrific
questions! Back to work but I hope to drop in later for a short while. I
know Stacey Gabriel is joining in a few minutes. Thanks again. Thanks
everyone\ldots{}.was a lot of fun to read and think about all these
questions and heartening to see the interest in modern genetics and
genomics! Bye RG%
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