August 31, 2006
A titan in the field of genetics has crossed over
For
those of you who knew Dr. Robert Gorlin, he passed away of
complications of lymphoma on Tuesday morning, August 29, 2006. The
following is from the School of Dentistry at the University of Minnesota. Dr. Robert Gorlin: Although
Dr. Gorlin retired from his position at the dental school in 1993, he
continued to lecture, write articles, edit text books, consult and, of
course, to come to the dental school every day until only recently when
his illness curtailed those visits. In addition to his faculty position
at the dental school, Dr. Gorlin also held joint appointments in the
University's Departments of Laboratory Medicine and Pathology,
Obstetrics and Gynecology, Otolaryngology, Pediatrics, and Dermatology.
Dr.
Gorlin was an internationally acclaimed expert on oral and
maxillofacial pathology, as well as genetic defects and syndromes,
craniofacial disorders and hereditary hearing loss. A lifelong observer
of life's rarer forms of disease, he studied physical malformations for
clues they provide about normal development and for the answers to some
of biology's most basic questions. Over the course of his 50 years at
the University, he studied and named more than 100 syndromes caused by
genetic defects, discovering six in the process that were named for
him. For several of those 100 syndromes, he and colleagues have been
able to isolate the gene that causes the condition. His pioneering work
has enabled physicians to assess and treat many genetic birth defects
and is helping molecular biologists find ways to prevent or lessen
their effects. Internationally applauded across a variety of
disciplines, he was the recipient of numerous awards, including five
honorary doctorate degrees from universities as far away as Athens,
Dublin and Copenhagen. In 1997, he was named a Senior Fellow in the
Institute of Medicine of the National Academy of Sciences which serves
as an advisor to the country in the conduct of studies and other
activities on matters of significance to health. That same year, he
also received the prestigious Premio Phoenix Anni Verdi Award,
presented by the Italian Medical Genetics Society in recognition of his
basic and applied research in genetically transmitted diseases, as well
as the Goldhaber Award from Harvard University. In 2002, he received
the University of Minnesota's highest honor, an honorary Doctor of
Science Award, and in 2003 he was recognized by the American Dental
Association with its Norton A. Ross Award. In 2004 he was the recipient
of the American Society of Human Genetics Award for Excellence in Human
Genetics Education and was the invited presenter on the topic of
genetic signaling in development and disease at the Nobel Foundation
conference in Stockholm. Committed always to sharing his knowledge and
inspiring others, he mentored and helped launch the careers of more
than 20 postdoctoral fellows and attracted the nation's scientific
leaders to the University of Minnesota for conferences, guest lectures,
and faculty positions. In 1967, he played a pivotal role in creating
the Lasby Visiting Professorship program, which continues to this day
as a vehicle for bringing distinguished international or American
health sciences scholars to the U-M School of Dentistry to complement
current research and education programs. For the last 13 years, he has
been honored by an annual Robert J. Gorlin Dysmorphology Conference
which attracts scientists and clinicians from all over the world to
discuss their research. Dr. Gorlin earned his doctor of dental
surgery degree from Washington University School of Dentistry in 1947
and his master's in Oral Pathology from the State University of Iowa in
1956. The same year, he joined the faculty at the U-M School of
Dentistry as associate professor and chair of the Divisions of Oral
Histology and Oral Pathology. He was named a U-M Regents Professor in
1978.
August 16, 2006
Sciona Lab Responds to GAO Report
Sciona Laboratory responded to the recent report by General Accounting Office that contained a negative assessment of nutrigenetic testing products through a press release dated
July 27, 2006. In short, the company disputes the GAO's interpretation
of the test results and offered to work with government entities to
develop appropriate standards.
August 15, 2006
Genetics and Public Policy Center comments on DTC genetic testing
The Genetic Public Policy at Johns Hopkins University announced today that it has published an issues brief on direct to consumer testing. The text of Director Kathy Hudson's testimony before the Senate Special Committee on Aging is also available.
August 14, 2006
Senate Hearings on Direct to Consumer Genetic Testing
The Special Committee on Aging held
hearings on direct-to-consumer genetic testing services on July 27,
2006. Testimony was heard from representatives from the Federal
government, academia and the companies being investigated. The General
Accounting Office (GAO) conducted an undercover investigation where
samples of DNA from male and female test subjects were sent to four
labs for nutrigenetic testing. The DNA samples were accompanied by
varying profiles of age, physical activity, and diet information.
According to the testimony of the Managing Director, Forensic Audits
and Special Investigations (FSI), U.S. Government Accountability
Office, the results of the undercover investigations report
discrepancies in analysis of the DNA samples, health advice that is
more consistent with reported lifestyle and diet than with the DNA test
results, and the promise of personalized advice that actually was the
same for all tested samples and profiles. The entire GAO report can be
accessed here.
The
results of this investigation are not surprising, though disappointing.
The promise of personalized diet and other lifestyle advice based on a
combination of genetic, demographic and lifestyle information is the
anticipated promise of nutrigenomics. However, we are not there yet,
not even close. With the negative publicity that is likely to be
generated by these results, I hope that we do not throw the baby out
with the bathwater. This type of testing, although clearly prematurely
and inappropriately being applied in these situations, needs to have
the type of regulatory structure that allows oversight without stifling
innovation. Ironically, these intrepid entrepreneurs who are pushing
the envelope by providing this technology to the public may actually
end up triggering a regulatory reaction that makes future innovation in
this area more difficult than it would have had to be. Senator
Barack Obama has introduced legislation to regulate direct to consumer
testing. It will be interesting to see how this legislation is shaped
as it wends its way through the legislative process in the US Congress.
The legislation was introduced as S.3822 on
August 3, 2006. So far, there are no co-sponsors. We will continue to
follow this and report any new developments regarding this legislation.
Family history and Breast Cancer
Check out the short article on family history and breast cancer in the July/August edition of the Sage Advice Newsletter.
This piece succintly reviews the relevance of a family history of
breast cancer and provides information for providers to confidently
interpret a family history of breast cancer in their patients. The
article is directed to the providers of cancer screening services who
participate in the Minnesota Breast and Cervical Cancer Screening
Program, otherwise known as the Sage Program.
The Sage Program provides breast and cervical cancer screening services
for women over age 40 who meet income guidelines and who are un- or
under-insured. Women under forty years who have known risk factors
(like a family history of cancer) may be eligible for screening through
the Sage Program with a doctor's recommendation. This is a great
program that has served almost 100,000 Minnesota women to date.
New Fact Sheets on Family History and Chronic Diseases
Check out the new fact sheets on family history and chronic diseases
at the Minnesota Chronic Disease Genomics Project's website. The
conditions covered include cardiovascular disease, hypertension, breast
cancer, prostate cancer, colorectal cancer, diabetes and depression.
These materials cover screening and prevention recommendations for
people with and without a family history of these conditions and give
advice on what you can do to prevent these conditions. I have
it on good authority that other fact sheets are currently in the
pipeline and that these will address prevention and screening for
people who are concerned about a family history of asthma, obesity and
ovarian cancer. I'll announce them here when they are available. If
you check these out, please provide feedback or comments via this blog
and I will see that the comments get back to the program. The goal is
to make these useful and accessible for everybody. Your feedback will
help to make it so.
Family history as a tool for prevention in primary care
The
Oregon Chronic Disease Genomics Program has published a compact,
information-filled article on using family health history for
prevention of several chronic diseases in the July 11, 2006 edition of the CD Summary,
an epidemiology publication of the Public Health Division, Oregon
Department of Human Services. The good news is that knowing about your
family history can give you and your healthcare provider the tools to
keep you well. In most cases, a family history of something helps you
either prevent or make a timely diagnosis of adult-onset diseases
because you know to be watching for them. This contributes to better
outcomes and health over the long term. Here are few fun facts from
this piece:
* If your first degree relative (a parent, a
brother or sister or child) has type 2 diabetes, your chances are
doubled to develop type 2 diabetes, as well. * Among people
who were older than 45 years of age, were overweight and had a family
history of type 2 diabetes, less than one third were worried about
their risk to develop type 2 diabetes themselves. * If you have
a first degree relative (parent, brother, sister or child) who had
cardiovascular disease before age 50, if male, or age 60, if female,
you should have your blood checked for signs that you are also at risk
for CVD. * If you have a family tree that suggests that CVD is
running in the family (more than one affected relative, showing up in
more than one generation, onset early in at least some relatives), this
may suggest you have a very strongly hereditary condition that results
in CVD in your family. * If you belong to one of these
families that is strongly predisposed to develop CVD, there are very
good options for prevention and treatment to greatly reduce your risk. * 25% of people diagnosed with colorectal cancer have a relative who also has /had the disease. * Colorectal cancer can be detected early and has a very high cure rate if diagnosed early. * Family history of breast cancer is relevant to your risk, whether it comes from your mother or father's side. *
If you have concerns about your family history of ANY condition, talk
to your healthcare provider about this and discuss being referred to
consult with a genetic counselor, a medical geneticist, or other
healthcare professional who specializes in assessing familial risk for
adult-onset diseases.
August 04, 2006
50 best science blogs
Nature has published their list of the 50 best science blogs written by scientists. Check it out.
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