Human and Mammalian Genetics
1000 Genomes Project
The genetic blueprints, or genomes, of any two humans are more than 99 percent the same. Still, the small fraction of genetic material that varies among people holds valuable clues to individual differences in susceptibility to disease, response to drugs and sensitivity to environmental factors. The 1000 Genomes Project is an international public-private consortium to build the most detailed map of human genetic variation to date. Disease researchers will use this catalog, which is being developed over the next two years, to study the contribution of genetic variation to illness.
Age-Related Macular Degeneration
The Genome Institute is helping to sequence the DNA of patients with Age-related Macular Degeneration (AMD), a neurodegenerative disease with a strong genetic component that accounts for almost half of all blindness in the US.
Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease that affects the nerves in the brain and spinal cord, leading to muscle weakening and eventual paralysis and death. The Genome Institute and an Australian collaborator are searching for genetic alterations that lead to development of the spontaneously arising form of the disease.
Autism Spectrum Disorder
The Genome Institute is collaborating with Cold Spring Harbor Laboratory and the Simons Foundation to sequence families affected by autism and shed light on the complex genetic contribution to the disorder.
Cleft Lip/ Palate
Cleft lip/palate (CLP) is a type of abnormal facial development occuring before birth. By sequencing genomes from patients and their family members, The Genome Institute is working to discover causative mutations of the disease by using next generation sequencing on genomic regions of interest as defined in genome-wide association studies (GWAS).
Diabetes and Metabolic Syndrome
Diabetes and metabolic syndrome are metabolic disorders with genetic components. The Genome Institute is working to better understand those components by sequencing genes associated with the disorders.
Genome Reference Consortium
The Genome Reference Consortium (GRC) was created to improve the sequence quality and accuracy of the human reference genome as its use in the field of genomic research expands to the clinic.
Homo sapiens Genome
The announcement of the completion of the draft sequence of the human genome in June, 2000, and the subsequent publication in Nature in February, 2001, marked an important milestone for the Human Genome Project. For the first time, scientists were able to view the features of our own instruction manual in relation both to one another and to the whole. For this first draft of the human genome The Genome Institute played an integral part in achieving this goal, contributing more than 20% of the draft sequence, and developing a comprehensive BAC clone map of the human genome.
Methicillin Resistant Staphylococcus aureus Infection
MRSA is a type of Staphylococcus aureus bacteria that is resistant to most commonly used antibiotics. Hospital patients are particularly susceptible. One form, called community-acquired MRSA, affects the general population, often causing significant morbidity and mortality in otherwise healthy children and adults. This project aims to discover key genes involved in this invasive community acquired form of MRSA infection.
Pharmacogenomics Research Network Project
As part of the Pharmacogenomics Research Network (PGRN), The Genome Institute is using next-generation sequencing and advanced analysis methods to target genomic regions of interest active during drug metabolism and to help understand how these variants play a role in disease susceptibility, onset or severity.
Retinitis Pigmentosa
This project focuses on the genetic causes of retinitis pigmentosa (RP), a group of inherited retinal disorders that often lead to blindness. The goal is to discover disease-causing mutations in RP families, which will lead to improved understanding, diagnosis and treatment of the disease.
Vervet Genomics
These projects are looking at the genomics of vervet monkeys from the Wake Forest University Primate Center Vervet Research Colony.
Y Chromosome
In the genetic battle of the sexes the Y chromosome has been suffering, losing many genes over time. Yet despite these defeats, the Y has fascinated scientists for years with its diverse origins, reproductive specialization and evolutionary persistence. Image courtesy of Indigo Instruments.
Research Areas
