Jared C. Roach is an American

biologist A biologist is a scientist who conducts research in biology. Biologists are interested in studying life on Earth, whether it is an individual cell, a multicellular organism, or a community of interacting populations. They usually speciali ...

who invented the pairwise end sequencing strategy while a graduate student at the

University of Washington The University of Washington (UW, simply Washington, or informally U-Dub) is a public research university in Seattle, Washington. Founded in 1861, Washington is one of the oldest universities on the West Coast; it was established in Seat ...

Education and early career

Roach attended

Cornell University Cornell University is a private statutory land-grant research university based in Ithaca, New York. It is a member of the Ivy League. Founded in 1865 by Ezra Cornell and Andrew Dickson White, Cornell was founded with the intention to ...

, where he received his Bachelor of Science in Biology in 1990. He then attended the

, where he received his PhD in

Immunology Immunology is a branch of medicineImmunology for Medical Students, Roderick Nairn, Matthew Helbert, Mosby, 2007 and biology that covers the medical study of immune systems in humans, animals, plants and sapient species. In such we can see ther ...

in 1998, and his MD in 1999. He trained in Internal Medicine at the University of Utah through 2001.

Career

Starting as a graduate student in the 1990s, Roach worked on the

Human Genome Project The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a ...

from its early days through its conclusion in 2003. He invented pairwise end-sequencing while a graduate student in

Leroy Hood Leroy "Lee" Edward Hood (born October 10, 1938) is an American biologist who has served on the faculties at the California Institute of Technology (Caltech) and the University of Washington. Hood has developed ground-breaking scientific instrume ...

's laboratory. Roach was a Senior Fellow at the Department of Molecular Biotechnology at the University of Washington from 1999-2000. In 2001, he became a Research Scientist at the

Institute for Systems Biology Institute for Systems Biology (ISB) is a non-profit research institution located in Seattle, Washington, United States. ISB concentrates on systems biology, the study of relationships and interactions between various parts of biological systems, ...

. In 2009, Roach was first author on a project which sequenced the whole genomes of a family of four, including two children affected by

Miller syndrome Miller syndrome, also known as Genée–Wiedemann syndrome, Wildervanck–Smith syndrome or postaxial acrofacial dystosis, is an extremely rare genetic condition that manifests as craniofacial, limb and eye deformities. It is caused by a mutation ...

and

primary ciliary dyskinesia Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive genetic ciliopathy, that causes defects in the action of cilia lining the upper and lower respiratory tract, sinuses, Eustachian tube, middle ear, Fallopian tube, and flagella of sp ...

. This effort identified the cause of Miller syndrome, a simple recessive

Mendelian disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorde ...

. It also produced the first complete whole-chromosomal parental haplotypes in humans. Parental haplotyping is the process of assigning all the variants in the genome to paternal and maternal chromosomes. The team applied these techniques to identify genetic mutations related to several

genetic diseases A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

, including genes for

Adams–Oliver syndrome Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin. Signs and symptoms Two key features of AOS are ...

alternating hemiplegia of childhood Alternating hemiplegia of childhood (AHC) is an ultra-rare neurological disorder named for the transient episodes, often referred to as "attacks", of hemiplegia (weakness or paralysis) from which those with the disorder suffer. It typically present ...

, certain subtypes of

epilepsy Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical ...

palmoplantar keratoderma Palmoplantar keratodermas are a heterogeneous group of disorders characterized by abnormal thickening of the stratum corneum of the palms and soles. Autosomal recessive, dominant, X-linked, and acquired forms have all been described. Types Cli ...

, and

Fanconi anemia Fanconi anaemia (FA) is a rare genetic disease resulting in impaired response to DNA damage. Although it is a very rare disorder, study of this and other bone marrow failure syndromes has improved scientific understanding of the mechanisms of nor ...

. From 2007 to 2009, he was Scientific Director of the High-Throughput Analysis Core (HAC) laboratory at Seattle Children’s Hospital. Since 2009, he has been a Senior Research Scientist at the

. Roach's group currently applies systems biology to complex genetic diseases, focusing on

Alzheimer’s disease Alzheimer's disease (AD) is a neurodegenerative disease that usually starts slowly and progressively worsens. It is the cause of 60–70% of cases of dementia. The most common early symptom is difficulty in remembering recent events. As ...

. In 2020, Roach was involved in a project to map out the molecular phylogenetics of Washington state's initial SARS-CoV-2 outbreak.

Selected publications

Roach has authored more than 70 publications with over 9000 citations. * * * * * *

References

External links

List of publications
authored by Jared Roach while at the Institute for Systems Biology {{DEFAULTSORT:Roach, Jared Year of birth missing (living people) Living people 21st-century American biologists Cornell University alumni Human Genome Project scientists Systems biologists University of Washington alumni