Tag: Genetics + Genomics

New Finding Accelerates Discovery of Disease Genes and Human Population History

May 9, 2001

In an exciting new development, scientists at the Whitehead Institute Center for Genome Research have found that single nucleotide polymorphisms (SNPs) in northern Europeans—the single letter DNA differences that underlie disease susceptibility and individual variation—travel together in blocks that are much larger than previously thought. The finding has major implications for mapping disease genes and dissecting human population history.

The Masculinization of the X Chromosome: Many Genes for Early Male Sperm Production Reside on the X Chromosome

March 29, 2001

In an entirely counterintuitive result, scientists have found that nearly half of all genes related to the earliest stages of sperm production reside not on the male sex (Y) chromosome as expected, but on the X chromosome, a chromosome universally thought of as the female sex chromosome.

International Human Genome Mapping Consortium Publishes Physical Map of the Human Genome

February 12, 2001

The Human Genome Project international consortium today announced the publication of a draft sequence and initial analysis of the human genome–the genetic blueprint for a human being. The paper appears in the Feb.15 issue of the journal Nature. The draft sequence, which covers more than 90 percent of the human genome, represents the exact order of DNA’s four chemical bases–commonly abbreviated as A, T, C, and G–along the human chromosomes. This DNA text influences everything from eye color and height, to aging and disease.

Dangerous Beauty: Fungal Flowers Offer Clues to Biofilm Formation on Medical Implants

February 1, 2001

At first glance, yeast growing on a jello-like medium look breathtakingly beautiful—like gossamer flowers with radial spokes emanating from a central hub (see cover of Science). But a florid fungus can be a dangerous beauty, able to coat medical implants with thin films causing serious complications in patients with hip and valve replacements. In fact, every year thousands of deaths can be traced to fungal infections around medical implants.

New DNA Array Method Helps Researchers Decipher Genome's Master Switches

December 21, 2000

Researchers at the Whitehead Institute and Corning Inc. have invented a powerful new mircroarray technique that can decipher the function of master switches in a cell by identifying the circuit, or the set of genes, they control across the entire genome. The researchers show that the technique can correctly identify the circuits controlled by two known master switches in yeast. In addition, the technique allows researchers to unravel in a week what takes years to achieve by conventional methods.

Scientists Show Cloning Can Turn Back Developmental Clock and Faithfully Reproduce X-Inactivation

November 23, 2000

Settling a hotly debated issue in the field of cloning, a team of researchers from the Whitehead Institute and the University of Hawaii has shown that the egg can reset the developmental clock of a female adult cell, first reversing and then faithfully reproducing an early genetic event called X-inactivation. X-inactivation is a process by which one of two X chromosomes in female embryos is randomly silenced during development.

Scientists Publish First Dense SNP Map of the Human Genome; SNP Total Exceeds 1.2 Million

September 27, 2000

Researchers at the Whitehead Institute and The Sanger Centre report their contributions to the methodology and progress of The SNP Consortium, an international effort to assemble and release the first high-resolution map of common variations in human DNA called single nucleotide polymorphisms, or SNPs. SNPs are the bedrock of human genetics: they can be used to track inheritance of any gene, contribute to the traits that make us unique, and underlie our susceptibilities to common diseases such as cancer, diabetes, and heart disease. It is also believed that SNPs help explain why individuals respond differently to drugs.

Whitehead Institute Receives National Science Foundation Grant to Sequence Neurospora

September 26, 2000

The Whitehead Institute for Biomedical Research has received a two-year, $5.25 million grant from the National Science Foundation to sequence the genome of the common laboratory fungus Neurospora crassa and to deposit the information in public databases.

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.

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