Dr. John Campbell Rathbun
1915-1972
pediatrician
Hospital for
Sick Children
Toronto, Canada
coined the term
"hypophosphatasia"
in 1948


News of Gene Research
"Since the gene defects
are currently being uncovered for hypophosphatasia,
there is promise for a precise genetic nosology
in the near future."

Michael Whyte, MD

GDB
Genome Data Base
The Hospital for Sick Children
Toronto, Ontario
(416) 813-8744  Fax (416) 813-8755
Email: gdb@sickkids.on.ca

hyperlink




http://www.genomecanada.ca




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NOVA: Cracking the Code of Life

http://www.pbs.org/wgbh/nova/genome

Understanding Heredity
Our Genetic Future



Charles Darwin
1809-1882
Francis Crick
b. 1916
James Watson
b. 1928
Crick & Watson
won the Nobel Prize in 1962 for
discovering the double helix structure of DNA
Genetic Code
British Naturalist
author in 1859
"Origin of the Species"
(Natural Selection)

Information on Genetics

David E.C. Cole, MD, PhD, FRCPC
Dept. of Clinical Biochemistry
Banting Institute
100 College Street
Toronto, Ontario  M5G 1L5
(416) 978-6720
Email:  davidec.cole@utoronto.ca

"Although the Human Genome Project results are very important,
they will not have any immediate impact on Hypophosphatasia.  However, they will greatly help researchers to understand
how the Tissue Nonspecific Alkaline Phosphatase (TNAP)
gene mutations in patients with Hypophosphatasia
cause the kind of disease that they do.

We may eventually discover why there are so many differences
within families, since we do not expect that, if all the effects
of the Hypophosphatasia are from one gene. 
We can also expect that new advances in gene therapy
may one day have an impact on the disease.

One may read all of the genetic details about Hypophosphatasia through the following web sites:

Sources for Information on Hypophosphatasia

National Center for Biotechnology Information
http://www.ncbi.nlm.nih.gov/About/sitemap.html

Hypophosphatasia, Adult Type
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146300

Hypophosphatasia, Infantile
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241500

Hypophosphatasia, Childhood
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=241510

Alkaline Phosphatase, Liver; ALPL
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=171760

From this information, it may be possible for some
to follow the information we have about the
Tissue Nonspecific Alkaline Phosphatase gene,
which we know to be the cause of Hypophosphatasia."
"Few people
would likely disagree that,
once we learn how,
genetically preventing tragic diseases would be acceptable,
if not prescribed."

-- Dr. Philip Kitcher --
"The Lives To Come:
The Genetic Revolution
and Human Possibilities"
INTO THE FUTURE ----

    Two scientific teams finished transcribing humanity's genetic code earlier this year, giving us a detailed owner's manual for the human body.  Writing down that code is considered among the greatest breakthroughs in the history of science. . . . researchers don't know what most of the code actually means.  It must still be deciphered.  The next great goal of science is to figure out how our 30,000 genes work together to make a human being.  And Toronto experts are at the forefront of that quest.

Inside Canada's Genetic Heartland

T.O. scientists are cracking nature's code

    Glass slides are the keys to our genetic kingdom, each smaller than a business card and crusted with 32,000 specks -- all dots of DNA.

    Made with a precision beyond human hands, they're the work of a robot.  And, like it or not, they'll soon be a basic part of health care.  Most of us can expect a "biochip" in our future, laying bare our unique genetic structure for easy analysis.

    --- Going by various names --- Gene Chip, biochip, a microarray --- these slides offer dramatic new perspectives on hidden codes driving our cells.

    Thousands of such chips have already been made, just on University Ave.  And many thousands more are produced daily in labs around the world.

    "It's taking off," says Neil Winegarden, a manager at the University Health Network's microarray centre in Toronto . . . The microarray centre is located in Canada's genetic science heartland -- an area contained within a four-block radius drawn from the intersection of University Ave. and College St.  Inside that circle stand the University of Toronto, five of the country's leading hospitals, and a host of upstart biotech firms.

    This heartland contains a renowned "library" of more than 5 million frozen gene samples, the world's foremost computerized gene database, and an army of researchers performing genetic experiments on a daily basis.

Excerpt -- The Toronto Star, 21 April 2001
by Leslie Papp, Staff Reporter



First Individual Human Diploid Human Genome
published by
International Research Group

4 September 2007

http://www.sickkids.ca/mediaroom/custom/humangenome07.asp





   

   


Hypophosphatasia

Alkaline phosphatase, liver/bone/kidney
Gene Symbol -- ALPL, HOPS
Chromosome Location -- 1p36.1-p34