Tag: Genetics + Genomics

Scientists Identify a Single Nucleotide Polymorphism (SNP) Responsible for Increased Risk of Diabetes

August 27, 2000

Researchers at the Whitehead Institute have shown that a common genetic variant increases the risk of contracting type 2 diabetes. The variant, a single nucleotide polymorphism (SNP) in a gene called PPAR gamma, is carried by billions of people and helps to explain why some people are more likely than others to contract diabetes. The study, published in the September issue of Nature Genetics, has several implications: it offers new insights into the underlying causes of diabetes and more generally provides a blueprint for analyzing the role of SNPs in disease.

Men are not in Driver's Seat of Human Evolution

August 9, 2000

For more than half a century, the field of human genetics has harbored a gender bias about the relative contribution of males versus females to human evolution. Since 1947, when biologist J.B.S Haldane suggested that the rate of genetic mutation is much higher in the male germ line than in the female germ line, geneticists have credited males with much of the evolutionary changes that occurred in the 5 million years since human ancestors departed from chimpanzees.

Whitehead Human Genome Project and SNP Consortium Announce Collaboration To Identify New Genetic Markers for Disease and Enhance Utility of Human Genome "Working Draft"

July 11, 2000

The Human Genome Project (HGP) and The SNP Consortium today announced plans to generate a new set of human DNA sequence information that will contribute 125,000 to 250,000 validated and useful genetic markers known as single nucleotide polymorphisms, or SNPs. The information also will enhance the HGP working draft sequence of the human genome.

International Human Genome Sequencing Consortium Announces "Working Draft" of Human Genome

June 26, 2000

The Human Genome Project public consortium today announced that it has assembled a working draft of the sequence of the human genome — the genetic blueprint for a human being. This major milestone involved two tasks: placing large fragments of DNA in the proper order to cover all of the human chromosomes, and determining the DNA sequence of these fragments.

Tracing the Evolution of Sex Chromosomes

October 29, 1999

Of the 46 human chromosomes, 44 are members of identical pairs. But two—the X and the Y—stand apart because they have no perfect match. Nevertheless, evolution has charged these two genetic loners with the critical task of sex determination: embryos with two X chromosomes develop into females, while embryos with an X and a Y chromosome develop into males.

New DNA Chip Method Could Improve Cancer Diagnosis

October 14, 1999

One of the biggest challenges in cancer treatment is choosing the right regimen for a given patient. Treatment strategies work differently for different tumors. In choosing effective treatments with minimal side effects, oncologists rely heavily on biopsy reports that diagnose the tumor type involved. However, even today, cancer diagnosis is done the old-fashioned way: by observing morphological changes in biopsies under the microscope. The method suffers from serious limitations because cancer cells that look similar under the microscope can follow different clinical courses and respond differently to therapy. Now, in a new study reported in Friday's Science,a team of Whitehead-led researchers reports the first systematic and objective approach for identifying and classifying tumor types.

Whitehead Receives $35 Million Grant from National Human Genome Research Institute (NHGRI)

March 12, 1999

The Whitehead Institute for Biomedical Medical Research will receive approximately $35 million from the National Human Genome Research Institute (NHGRI), National Institutes of Health, to participate in the first year of the definitive, full-scale effort to sequence the human genome.

“SOMs” Help Analyze Thousands of Genes

March 12, 1999

Using a sophisticated computer algorithm, a team of scientists at the Whitehead Institute has designed a new technique to analyze the massive amounts of data generated by DNA microarrays, also known as DNA chips. This technique will help scientists decipher how our 100,000 genes work together to keep us healthy and how diseases result when they fail.

Whitehead Receives $7 million NIH Grant to Build High-Speed Sequencing Machines

March 1, 1999

The Whitehead Institute for Biomedical Research has received a three-year, $7 million grant from the National Human Genome Research Institute to develop chip-based genome sequencing machines that can sequence 7 million DNA letters per day, or 2 billion letters per year. Once these machines are up and running, it would be possible to use as few as 20 machines to sequence an entire mammalian genome in one year, according to Whitehead scientists.

Scientists use DNA Chips to Dissect Cells’ Genome Circuitry

November 24, 1998

Using a hot new microchip technology, scientists at the Whitehead Institute for Biomedical Research have identified how key components of the cell’s gene-reading machinery coordinate the expression of genes throughout the genome of a living organism.

Whitehead Study Establishes Role of DNA Methylation in the Stability of DNA

April 2, 1998

Scientists at the Whitehead Institute for Biomedical Research have established for the first time that DNA methylation, a chemical process by which cells alter how genes are read without changing the basic text, may also be responsible for maintaining the integrity of the genome, or in other words, for ensuring that the 3 billion-letter DNA code is copied accurately when cells divide.

Study Paints New Picture Of Y Chromosome as a Safe Haven for Male Fertility Genes

October 24, 1997

For decades scientists thought that the human Y chromosome, the male sex chromosome, was nothing more than a smaller, less stable version of its partner, the X (the sex chromosome present in both females and males). However, new research led by Dr. David Page, member of the Whitehead Institute for Biomedical Research, and associate investigator of the Howard Hughes Medical Institute, reverses this unflattering picture of the Y and reveals it as a crucial player in the evolution of sex chromosomes and also as a safe haven for male fertility genes. These results are not only generating a new respect for the Y chromosome but also could lead to novel diagnostic techniques for thousands of infertile men. The results also have profound implications for understanding the genetic differences between men and women and the genetic underpinnings of chromosomal disorders such as Turner syndrome.

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