The Hospital for Sick Children

Websites:
The Centre for Applied Genomics
The Chromosome 7 Project
Database of Genomic Variants
McLaughlin Centre
Steve Scherer's Wiki

News:
Press Releases and Articles
Lay Reviews/Opinions/Editorials
Media/Scientific News Articles
Interviews
Video presentation and interview
Integrative research at TCAG [Video]

Contact Info:
Stephen W. Scherer
The Centre for Applied Genomics
The Hospital for Sick Children
Peter Gilgan Centre for Research and Learning
686 Bay Street, Room 13.9800
Toronto, Ontario, M5G 0A4, Canada
(416) 813-7613 (office)
(416) 813-8319 (fax)

Elaine Chang
Dr. Scherer's Assistant
Phone: (416) 813-7654 x301574
Fax: (416) 813-8319

The Treasures of Chromosome 7

U of T Magazine - Autumn 2001

Before you can work on proteins, though, it helps to have the corresponding gene. And there’s a lot more work to be done to get the genes, says molecular geneticist Stephen Scherer, associate professor of molecular and medical genetics, and associate director of The Centre for Applied Genomics (TCAG) at the Hospital for Sick Children. For one thing, neither of the two genome projects has a complete, start-to-finish sequence of human DNA. For another – something that’s often lost sight of – neither project is exactly universal: they studied DNA from a total of a dozen or so individuals. Your mileage, as they say in the car ads, may vary. “There has been a lot of hype,” says Scherer. “We still have a lot of work to do.”

That’s why he and his colleagues are still beavering away to complete the world’s understanding of the human chromosome 7. Despite the genome projects, actually finding and sequencing the genes on a chromosome is still a time-consuming, difficult and – when you find one – thrilling chore. Chromosome 7 is the home of dozens of genes linked to disease, including some linked to autism, a suite of genes related to a form of epilepsy, and the famous CFTR gene whose mutation causes cystic fibrosis. (CFTR was one of the first disease genes found, and was discovered by TCAG director Lap-Chee Tsui and colleagues.) “There are a lot of really great diseases to study on chromosome 7,” says Scherer.

And, despite the genome projects, the treasures hidden on chromosome 7 (let alone the other chromosomes) are not exhausted. Outside Scherer’s small but tidy office hangs a much-annotated map of 7. It is, he says, the most complete of any of the chromosome maps – thanks largely to the Chromosome 7 Project – but it still has gaps. “Based on our numbers,” he says, the genome projects “missed between 20 and 25 per cent of all the genes on 7 – and we’re missing some genes, too.” Think of the genome as an encyclopedia containing the information on how to make and operate a human being, he says. Some fiend has cut the 23 books into individual words and now – with the two genome projects – “it’s roughly in order, but there are missing pages, rips in pages and some chapters in the wrong order.”

In the long run, though, Scherer sees a day when much of the data we’re now painstakingly sifting through will be used routinely. “In 15 years,” he says, “it will not be unusual for an autopsy to include DNA sequencing.” Drugs will be tailored to match individual DNA sequences. Diseases will be diagnosed by looking at the DNA of pathogens. It may even be possible to cure or prevent DNA-based diseases, such as Alzheimer’s or autism. But, for the near future anyway, it’s more of the same for geneticists: “The next three or four years will be cleaning up the genome, finishing the sequences and finding all the genes,” says Scherer. One major change is that much of the work will be done on the computer screen. “Most of the people in my group now spend at least 50 per cent of their time working on computers,” says Scherer.