Welcome to the first issue of SNP-IT (Society News
and Progress–IT).
Earlier this year, the ASHG board of directors sent
out a link to a survey about your ASHG membership.
We hope you have had a chance to respond. If not,
there is still time—the deadline for response is
February 22, 2007:
Click here if you are a trainee member or
here for all other members. Look for a more
detailed article about the survey entitled,
Your Chance to Be Heard!
in this issue of SNP-IT. Survey results to date
indicate that one new program clearly supported by
all our members was the creation of an electronic
newsletter that would provide information important
to ASHG members. We hope that SNP-IT will serve that
purpose.
Members will receive four electronic issues of SNP-IT
annually. Included will be information on policy
issues related to your work, updates on ASHG
education efforts, articles devoted to trainees, and
other interesting topics. If you would like to
become a contributor to the ASHG SNP-IT with an
article you think members would find of interest,
please do not hesitate to contact us. Send your
contribution to Kenna Mills Shaw at
kshaw@ashg.org.
We are continually working to improve the services
ASHG provides for its members. We hope that this
online newsletter, as well as ASHG’s other efforts
and programs, enrich your membership and add to your
reasons for finding the Society of value in your
career development.
In 2007 we look forward to another year of
achievements, opportunities, and challenges. An
important focus this year will be on exploring how
ASHG can best support its membership. A successful
professional scientific membership organization has
appropriate and lofty goals, a mission statement
that is important and focused, and leadership that
is motivated, involved and effective. ASHG possesses
all of those strengths, and is making an impact in
many areas of policy, education, training, and
community involvement. But every organization also
needs an engaged and active membership to thrive. We
seek your input about the role of the society in
your professional life, and about how we can move
forward as a group to promote education in human
genetics, bring young faculty into the ASHG in
leadership training roles, work to influence public
perception of genetics, and use the offices of the
Society to enhance public confidence in and support
for research in human and medical genetics. Through
the hard work of ASHG members and staff, much has
been accomplished in the last year. The following
presents brief highlights:
Highlights from 2006
Direct to consumer genetic testing position
statement
The Social Issues Committee has developed a draft
statement on direct-to-consumer testing. The draft
was presented to the Board of Directors in October,
revised, and then posted on the ASHG website for
member comments. About 100 thoughtful and considered
comments were submitted. A further revised statement
will go to the Board for final consideration and
approval. We appreciate the active participation of
our membership in this process.
Response to the NIH request for information (RFI)
on the data sharing policy for genome-wide
association studies
At the annual business meeting, the question of
whether and/or how ASHG was responding to the NIH
RFI was raised. We requested an extension of time to
respond, and the NIH accommodated that request. The
final ASHG response, which attempted to address the
many concerns raised by knowledgeable and involved
Society members, is
available on the ASHG
website.
Research funding
The Society continues to work with the Federation of
American Societies of Experimental Biology (FASEB)
on preparation of the Annual Report on Federal
Funding. ASHG members serve on the writing committee
for this report, which is approved by the FASEB
Board before it is made public. The final report is
available at
www.FASEB.org
GINA and other policy and legislative issues
ASHG leadership and staff continue to work with
coalitions and partners in garnering support for
issues important to our scientists and clinicians,
including federal Genetic Information
Nondiscrimination (GINA) legislation and proposed
legislation that would support appropriate research
on all types of stem cells. We are pleased to report
that GINA has now been introduced in both the Senate
and the House, and urge all ASHG members to express
their support for this legislation.
Educational programs
Education is a priority for ASHG. With a full time
director of education, ASHG has become a leader in
the development of models and methods by which
scientific organizations can influence science and
general genetics education in all sectors of the
population. The $1.1M grant ASHG received from the
NSF will focus on the establishment of
geneticist-educator teams that will develop
innovative curricular materials for kids of varying
ages. The local educational activities at our
meeting in New Orleans reached both high school and
undergraduate teachers, and were a resounding
success. Our Mentor Network, participation of ASHG
members in the DNA Day programs in April, and the
new national essay contest add to the breadth of our
educational programs. These are only a few of the
ongoing activities that require minimal, but
essential, individual investment of time and energy
of ASHG scientists to become successful programs of
which the Society can be proud. You can read more
details about all our educational programs at
www.GenEdNet.org
Training and professional development
ASHG now has an ad hoc committee on post docs, and
several new events have been added to the agenda of
the annual meeting for the benefit of trainees and
new faculty members. The Society has partnered with
FASEB to establish a much more proactive program to
advertise job openings and support trainees and
professionals in their search processes.
The Society has not yet initiated mechanisms by
which our members (trainee and established) could be
provided incentives or benefits through their
membership status to facilitate this matching
process, but several options are under discussion.
The ASHG Annual Meeting
The annual meeting of ASHG will be held in San
Diego, October 23–27, 2007. The program committee,
headed by Elizabeth Hauser, has identified
14 symposia
topics
for presentation in concurrent day sessions that
cover the full range of human genetics. We will
continue to offer two free nights to allow more time
for interaction and networking for participants as
well as to free up an additional evening to enjoy
the other attractions of San Diego. The Information
and Education Committee, under Neil Lamb’s
direction, has already selected
six topics for the
Education sessions, and the Social Issues Committee,
under Sharon Terry’s direction, is selecting
four topics for
presentation. The Distinguished Speakers’ Symposium
and a Special Presidential Forum are in the final
planning stages. We believe that this meeting will
be the best ever!
Promoting opportunities for the next
generation
As genetics and genomics become infused through all
disciplines, ASHG is faced with the challenge of
providing the educational and institutional base for
these efforts. To be sure that we continue to
attract, excite, stimulate and retain new members we
must identify way in which ASHG can support the
needs of students, post-doctoral; fellows and junior
faculty. We will continue current successful
programs such as the mentor lunch, job fair and the
career networking event. In addition, we will
continue the ad hoc post doc committee to explore
additional ways in which ASHG can create
opportunities for individuals in the early stages of
their careers, including efforts to open leadership
positions for the next generation of human
geneticists. We will also use information for the
current survey of members and past members to
identify strategies for enhancing the support ASHG
provides.
As you can tell, we anticipate a busy and productive
year and hope to involve all of you in active
advocacy for science in your communities. We also
want to take this opportunity to express our
appreciation to the superb ASHG staff, many of whom
you see at the annual meeting. Stop by next time,
say hello.
Thank you for your continued participation in ASHG.
April 25, 2007, marks the fifth annual
celebration of National DNA Day. Each year ASHG
collaborates with The Genetics Society of America
(GSA) and the National Human Genome Research
Institute (NHGRI) to coordinate a series of speakers
in K-12 classrooms across the country. Members of
the ASHG Mentor Network are contacted in the early
spring when teachers in their area request that a
geneticist speak to their class. ASHG and NHGRI have
developed a series of resources to assist speakers
in designing their own presentations to fit specific
grade levels and state standards.
If you are interested in becoming a part of the ASHG
Mentor Network and would like to add your name to
our growing list of potential speakers, please visit
www.GenEdNet.org
and follow our links or contact Kenna Mills Shaw at
kshaw@ashg.org.
In addition to sending speakers to classrooms, we
also work as judges for the DNA Day Essay Contest.
This contest, in its second year, is completely
electronic. All submissions and scoring are
completed online, making judging very easy. The two
questions for the contest are:
If you could be a human genetics
researcher, what would you study and why?
In what ways will knowledge of
genetics and genomics make changes to health and
health care possible in the US?
If you are interested in being a DNA
Day Essay Contest judge, please contact Kenna Mills Shaw
at kshaw@ashg.org
for more information.
Becoming a mentor or a judge for the essay contest
are great ways to become involved in ASHG and your
community. We are already looking forward to April
25 and hope you are too.
A New Look at Members of
the
ASHG Board of Directors
In this and future issues, SNP-IT will help
you get to know members of your ASHG Board of
Directors by sharing their answers to questions from
the traditional (What are your primary research
interests?) to the unexpected (If your office were
on fire, what one object would you take with you?)
with a few surprises in between…
Stephen T. Warren, PhD
ASHG Past President (2006)
Emory University School of Medicine
Primary research interests: My
primary research interests are the
population, clinical, biochemical, molecular
and neurogenetics of Fragile X syndrome.
Very recently we have also become involved
in gene discovery for autism and
schizophrenia.
If your office were on fire, what one
object would you take with you?
It would be a toss up between a 1952 edition
of Don Herbert's Mr. Wizard's Science
Secrets and a 1907 edition of Reginald
C. Punnett's Mendelism.
Peter H. Byers, MD
ASHG Past President (2005)
University of Washington, Department of
Pathology and Medicine
Primary research interests: How do
mutations in complex genes, like collagens,
translate into specific phenotypes? What
creates variation? How do splice site
mutations work? What new genes for these
disorders can we find? And how can we use
this information to make people better? The
short list.
How did you get started as a geneticist?
My life as a geneticist started on the
slopes of Mt. Hood, in Oregon, collecting
black fly larvae with Lester Newman from
Portland State College, where I took
genetics in preparation for medical school.
As a subject in medical school it received
scant attention (those were the ‘60s when we
had other things to do) and it wasn’t until
I worked with George Martin at the NIH that
study of genetic disorders of collagen
structure and synthesis looked promising. I
have to admit that until then I thought that
collagen was perhaps the most boring
molecule in existence. In Seattle, Arno
Motulsky led the Medical Genetics program
but Paul Bornstein and Judy Hall provided
the wherewithal to begin serious study of
these disorders on my own. Fortunately,
inspiration is found in trainees, and people
like Greg Barsh, Steve Chessler, Rick
Wenstrup, Marcia Willing, Gillian Wallis,
Ulrike Schwarze, James Pace and others have
continued to make me think in ways that I
might not otherwise.
Any major “aha” moments that have marked
your career?
“Big” discoveries are rare, but even the
next mutation or the next patient provide
something almost each day. I remember the
early realization that mutations in collagen
genes led to improper folding and defects in
secretion (Greg Barsh and Jeff Bonadio did
the work), before most others had caught on
to the idea. Recognizing that parental
mosaicism turned apparently recessive
disorders into dominant ones was a stunning
piece of work, led mostly by Dan Cohn who
really proved that it existed. Understanding
why intronic mutations lead to particular
outcomes is still not well understood, but
seeing the order or intron removal as a
factor (done by Ulrike Schwarze) has made us
think much more about why the order is not
processive.
Any words of wisdom for the next
generation of geneticists?
I continue to be surprised that there is
something new everyday, that genetics is an
extraordinarily field to study, and that it
is a defining passion. Who could ask for
more?
David Nelson, PhD
ASHG Secretary
Baylor College of Medicine, Department of
Molecular and Human Genetics
Major research interests: Genetics of
mental retardation, Fragile X syndrome and
incontinentia pigmenti. Genomic instability:
triplet repeats and segmental duplications
in evolution and disease.
If your office were on fire, what one
object would you take with you?
My laptop—it’s my secondary brain, and it’s
never far from me.
When was the moment you knew you’d be a
scientist?
During my high school Bio II class. I had a
wonderful teacher, Mr. Sane—he was
incredibly curious and very inspirational.
Any major “aha” moments that have marked
your career?
When we finally got the sequence of the CGG
repeats in the FMR1 gene, and realized that
they were responsible for the expansion
mutations in Fragile X syndrome, we realized
we were seeing something completely novel.
That was a remarkable moment. Another
favorite was the trip to Santa Fe, New
Mexico that inspired me to consider using
Alu repeat sequence oligos in PCR. But
that’s a long story.
Favorite mentors/people that have shaped
your career?
In addition to Mr. Sane in high school, I
had a great teacher at the University of
Virginia. Bob Huskey taught human genetics,
an upper level biology course. His area of
interest was Volvox genetics, but he really
enjoyed teaching human genetics, and it
showed. He used Curt Stern’s textbook. I was
absolutely hooked—I knew after that course
that human genetics was what I wanted to do.
Favorite science joke?
Q: What’s new? A: C over lambda. (Groan—MIT
will do that to you.)
Cynthia Casson Morton, PhD
Editor of The American Journal of
Human Genetics
Brigham and Women's Hospital and Harvard
Medical School
Major research interests: An overall
theme of the research in my laboratory is to
apply evolving techniques in molecular
cytogenetics to address problems in human
cytogenetics; a major endeavor is underway
to identify genes that predispose women to
develop uterine leiomyomata and an ongoing
effort is to identify genes involved in
human development, known as DGAP. Another
primary interest in the laboratory is to
identify genes involved in hearing and
deafness disorders.
If your office were on fire, what one
object would you take with you?
I'm sure I could take more than one thing,
and would grab my purse, my briefcase and
photos of family and colleagues.
What would you like ASHG members to know
about you?
I am so honored to be the Editor of the AJHG.
Moment you knew you’d be a scientist? In
retrospect, when I boiled a frog to make a
skeleton during one of my parents' dinner
parties.
Any major “aha” moments that have marked
your career?
Finding MYC mapped to 8q24 by in situ
hybridization in 1982.
Favorite mentors/people that have shaped
your career?
Walter Nance, Philip Leder and Ramzi Cotran.
Any nuggets of advice for trainees/young
scientists?
Article Summaries,
The American Journal of Human Genetics, March 2007
A SNP Can Neutralize Splicing Mutations,
by Nielsen et al.
There is increasing evidence that mutations can
significantly affect splicing even when they are not
located directly at the splice site. On this basis,
Nielsen et al. examined the effects of a missense
mutation within exon 5 on the expression of MCAD.
The mutation was found previously in patients with
medium-chain acyl-CoA dehydrogenase deficiency.
Here, the mutation was shown to decrease mRNA levels
through a disruption of splicing that led to
skipping exon 5, early termination, and
nonsense-mediated decay. Through various minigene
experiments, the authors demonstrated that the
mutation disrupted an exonic splicing enhancer
(ESE). They then went on to measure the effects of a
second variant in exon 5, a synonymous polymorphism.
This variant was predicted to alter an exonic
splicing silencer (ESS). Additional minigene
experiments revealed the complex interplay between
these two changes, and of splicing control in
general, by demonstrating that the introduction of
the SNP disrupting the ESS renders the transcript
immune to the detrimental effects of the loss of the
ESE.
Selection on ADH1B, by Han et al.
During alcohol metabolism, alcohol is broken down to
acetaldehyde by alcohol dehydrogenase, and the
subsequent acetaldehyde is oxidized to acetate by
acetaldehyde dehydrogenase 2. The essential nature
of these genes in the body’s processing of alcohol
has made them interesting candidates in the search
for variants associated with alcohol dependence. One
such association has been identified between a SNP
in ADH1B and protection against developing
alcoholism. Because of the high frequency of which
this variant is found in East Asian populations,
there has been speculation that selection has
occurred at this locus. Han et al. decided to
examine this hypothesis by evaluating the selection
signatures of SNPs across the ADH region. Their
results support the hypothesis that a protective
ADH1B haplotype underwent positive selection in
various populations from East Asia.
Phosphate Carrier Deficiency, by Mayr et al.
Disruptions of mitochondrial metabolism can cause a
variety of disorders with a wide range of
severities. During energy metabolism in
mitochondria, adenosine diphosphate (ADP) is
combined with inorganic phosphate to create
adenosine triphosphate (ATP). This inorganic
phosphate is transported into the organelle by the
mitochondrial phosphate carrier, PiC. Muscle-biopsy
samples from a pair of sisters presenting with
cardiomyopathy and muscle hypotonia revealed that,
although the respiratory chain was functioning
normally, ATP synthesis was disrupted. Because none
of the genes known to be mutated in the disruption
of ATP synthesis were found to be affected, the
authors decided to check the PiC. A mutation was
identified in an exon specific to the isoform
expressed only in heart and muscle. To further
evaluate the effects of this mutation, yeast
deficient for phosphate-carrier activity were
produced. The knockout yeast were able to grow only
on glucose. Those cells were then transformed with
wild-type human PiC as well as with the mutant human
PiC. Whereas the introduction of the wild-type
protein enabled growth on other types of media, the
mutant protein did not.
Gene-Expression Variation in Humans, by Storey et
al.
Sequence variation within and among populations has
been studied, but little is known about how
gene-expression levels differ among humans. To
examine this issue, Storey et al. examined the
expression patterns of 15,000 genes in eight CEPH
individuals and in eight individuals from Yoruba.
The changes that they observed were small, but 83%
of the genes showed expression-level variation among
individuals, and the levels of 17% of the genes were
different between the two populations. It was also
determined that most of the variation in expression
levels for specific genes was due to the component
from differences among individuals. A closer look at
the pathways to which these genes belong suggested
that the expression of genes in the inflammatory
pathway may significantly differ among populations.
To evaluate the mechanisms behind this variation,
allelic expression was analyzed, and the
differential expression of the alleles suggested cis-regulation.
Drs. Gilbert S. Omenn, Professor of Internal
Medicine, Human Genetics and Public Health,
University of Michigan, and Leon E. Rosenberg,
Professor, Department of Molecular Biology,
Princeton University, were named 2006
Ambassadors of
the Paul G. Rogers Society for Global Health
Research. Overall there were twenty-seven
Leon E.
Rosenberg
ambassadors selected who will work locally to begin
building a national discussion about the need to
assign a high
priority to global health research.
The Honorable
Paul G. Rogers is a former Florida Congressman who
is now chair emeritus of Research! America. The Paul
G. Rogers Society for Global Health Research was
launched by Research! America to increase awareness
of and make the case for greater U.S. investment in
research to fight diseases that disproportionately
affect the world’s poorest nations.
Early in 2006, the National Science Foundation
issued a solicitation for their Math and Science
Partnership (MSP) Program that specifically
requested proposals from disciplinary scientific
societies. Preliminary work coming from other MSP
researchers suggests that institutions of higher
education do not find significant merit in the
scholarship of teaching and learning, particularly
when these activities take scientists from their
laboratory and into the K-12 classroom. Our
proposal, entitled the Geneticist-Educator Network
of Alliances (GENA) Project, was selected for
funding.The GENA partnership between the American
Society of Human Genetics (ASHG), the Genetics
Society of America (GSA), the National Science
Resources Center (NSRC) and the National Association
of Biology Teachers
"Our proposal,
entitled the Geneticist-Educator Network of
Alliances (GENA) Project, was selected for
funding."
(NABT) will use the broad theme
of genetics to build a framework to form long-term
collaborations between educators and scientists and
a sustainable infrastructure to support meaningful
scholarship by scientists in the high school science
classroom. GENA will provide the scientific
societies involved with tools to instruct,
facilitate and measure the meaningful engagement of
science, technology, engineering and mathematics
(STEM) faculty members in secondary science
education.
Intellectual Merit of the GENA Project: The GENA
Project will explore ways that a professional
society-monitored secondary science education
outreach effort can play a positive role in the
career development of both junior (pre-tenure) and
senior (post-tenure) level genetics faculty.
Exemplary inquiry-based educational materials in
genetics will be utilized to design methods to
facilitate meaningful interactions between
scientists and their local educational community. A
network of geneticist-educator alliances will be
used to design teaching strategies relating to
standards and misconceptions in genetics that can
decrease time required for scientists to engage in
these activities, thus maximizing the effective and
meaningful interaction between the geneticists and
students.
Broader Impact of the GENA Project: A network of 92
master Geneticist-Educator alliances, made up of a
geneticist and a local high school teacher (184
total participants), will be developed during the 3
years of the GENA Project. These alliances will
serve as training leaders in their own school
districts in subsequent years. Detailed teaching
strategies will be disseminated nationally through
current Math and Science Partnerships and a publicly
accessible website sponsored by ASHG and GSA (www.GenEdNet.org).
Geneticists will interact with a local high school
teacher for a period of one year. During that year,
the alliances will attend a two and a half day
workshop (for which they will receive a small
stipend) and develop and implement innovative
teaching programs in genetics education. Along with
GENA professional staff, STEM faculty mentors will
develop and co-author publications and presentations
at national meetings of all the societies involved.
At the conclusion of this work, the data will be
evaluated and a model program, adaptable by any
disciplinary scientific society, will be presented
through publications and semi-annual meetings of
education leaders from science and mathematics
societies. The GENA Project and training will become
an integral part of the strategic development plan
for the educational efforts of ASHG and GSA, thus
making K-12 education outreach a truly integral
aspect of society activities.
The work completed during the three years of the
GENA project will:
create a sustainable infrastructure of
pedagogical and content-specific support that
scientists can use to develop meaningful
scholarly interactions with local K-12 teachers
and students,
increase the respect for the efforts of
scientists to perform outreach through a series
of scholarly publications, written by
scientist-mentors in the GENA Project, to be
submitted and published in scientific journals,
develop a model of professional development for
scientists, adaptable to other disciplines, that
will be presented at the annual meetings and
newsletters of all four societies involved in
the GENA Project,
provide and maintain a forum for geneticists and
teachers to communicate throughout the lifetime
of this project and beyond through an ASHG/GSA-supported
listserv dedicated to the GENA Project,
develop a set of lesson plans and case studies
that will be made publicly available so any
interested teachers or scientists across the
country can access the materials and implement
them in the classroom, expanding exponentially
the impact of the GENA Project,
promote K-12 outreach by scientists through
presentation of GENA-Project-related monographs,
editorials and data on a dedicated page of the
www.GenEdNet.org Web site (the education
website of both ASHG and GSA) and
create a mechanism for scientists engaged in the
efforts of the GENA-Project to receive letters
of support for their career development
portfolio from members of the Board of Directors
and Executive Vice President of ASHG.
ASHG is currently looking for members of ASHG or GSA
who would be interested in being an active member of
the GENA Project for at least one year between
2007-2009. In order to gauge the impact that this
program has on the institutional policies at
institutes of higher education, participating
geneticists must be at a tenure-granting institution
and a faculty member in a science department. If you
are interested in applying to be a part of the GENA
Project or learning more about what involvement will
entail, please do not hesitate to contact the
Education Office at ASHG or go
online
to apply.
We look forward to working with you.
Kenna Mills Shaw, PhD
ASHG
Director of Education kshaw@ashg.org
GETTING ACROSS (AND DOWN) THE BASIC PRINCIPLES OF
GENETICS
Be the first to win: The first three people to fax a
correctly completed crossword to 301-634-7079
(attention: Kenna Mills Shaw) will receive a free AJHG
T-shirt. Please be certain to include your name and
e-mail address in your fax.
The ASHG annual meeting in 2006 held in New Orleans,
October 9-13, was a resounding success by all
measures. Starting with the Education Sessions on
Tuesday and ending on Friday with three talks by
distinguished speakers, it was packed with great
science and new ideas. Features included: a special
plenary session with guests Dr. Elias Zerhouni, NIH
Director, Spencer Wells of the National Geographic
Society and Rick Guidotti, Positive Exposure,
showing the beauty of individuals from the human
genetics patient community. Also at that session,
ASHG presented a check for $30,000 to Dana Gonzales,
the Science
"Something unique this
year was the wonderful feeling of having
contributed to the recovery of New Orleans."
and Mathematics Coordinator from New
Orleans Public Schools, who was thrilled that New
Orleans schools were the recipients of ASHG’s
Katrina Equipment and Book Fund Drive. Half of the
money was collected from the generous and concerned
ASHG members and meeting attendees who contributed
to the fund over the past six months or bought
T-shirts. ASHG matched the funds collected. Besides
the financial support, 250 local students and their
teachers enthusiastically participated in the ASHG
high school workshop held one day prior to the
annual meeting. Educational support was further
supplemented by the Venter Institute’s Discover
Genomics! Mobile Laboratory, a traveling
demonstration wet lab that many students visited. We
also hosted the first annual Undergraduate Genetics
Education Workshop for undergraduate genetics
professors.
At the ASHG membership meeting, which was unusually
well attended, Kenna Mills Shaw, Director of Education,
announced that ASHG has been awarded a $1.1M NSF
3-year grant. ASHG’s goal is to build on the
existing Mentor Network, an outreach program
designed to build a dialogue between ASHG members
and K-12 science teachers in their communities. A
part of the grant will be to hold workshops in five
areas of the US, each one a forum for scientists and
teachers. The scientists will coach the teachers on
the science content, and the teachers will coach the
scientists on pedagogy. We are excited about this
opportunity to spread the word about human genetics
research and to teach genetics lessons at all age
levels.
An interesting aspect of the meeting, something
unique this year, was the wonderful feeling of
having contributed to the recovery of New Orleans as
a convention venue. Many attendees commented on how
rewarding it was to see the city coming back and
partake of the Cajun restaurant cooking and
enjoyable nights in the French Quarter. But even
more exciting was to talk with citizens of the city.
They were delighted that we opted to keep our
meeting there and support the city. One of our staff
members on her way to the airport after the meeting
was told by her taxi driver that the wonderful
people who organized the genetics meeting had
donated $30,000 to the public schools science
program. He was thrilled to hear that it was her
meeting! She will never forget how grateful and
appreciative he was of the important role ASHG
played along with many others to bring science
education to the citizens of New Orleans.
If for some reason your plans this fall did not
include attending the ASHG meeting, you should
consider a special visit to the renovated city, to
see how far they have come and to help them in any
small way you can so that this remarkable
renaissance can continue.
ASHG 2006 Annual Meeting
Press Conference on Katrina and Genetics
Practice
- Dayna Silberman, ASHG Program Coordinator
The 2006 ASHG Annual Meeting in New Orleans in
October was a resounding success, thanks to the
members planning it, presenting and attending. The
meeting offered an opportunity for sharing cutting
edge research on genetics issues as well as networking
and socializing with colleagues from around the
world. It was also an opportunity to support the
renaissance of New Orleans
as a city and a
community.
One of the press conferences during the meeting was
given by Dr. Yves Lacassie, Department of
Pediatrics, Division of Clinical Genetics, LSU
Health Sciences Center, and Dr. Michael Marble,
Chair, Committee for Newborn Screening in Louisiana
and clinical geneticist at Children’s Hospital New
Orleans. These geneticists played an important role
in ensuring that care was continued for their
patients and others despite the disruption and
devastation caused by Katrina and subsequent floods.
In the press conference, they gave a first hand
glimpse into their work as pre-Katrina geneticists,
then scrambling to ensure their patients were taken
care of and continuing care into the present.
Each of these physicians was affected by the
hurricane personally as well as professionally.
Their slide show was a unique opportunity to see
first hand how these individuals put the needs of
their patients above all else, used whatever
resources were available and literally contacted and
followed up with each patient in their charge.
The physicians moved their offices to satellite
sites, used public information and the media to
communicate these changes, telephoned patients by
cell phones in the new locations, and with just a
brief lapse of a day or two, provided care to former
and to new patients in need. The physicians put
aside destruction of personal property, quickly
identified temporary quarters and almost immediately
“set up shop” wherever possible in surrounding
locations.
The subsequent practices of these geneticists have
changed to reflect the changes in the city.
Children’s Hospital has reopened, other facilities
have not. While the population of the city is only
half of what it was pre-Katrina, patient levels in
the genetics practices have exceeded pre-Katrina
levels, indicating significant growth overall. With
daily life still heavily impacted by the storm, the
geneticists now performing tasks far beyond their
job descriptions.
We salute these geneticists who demonstrated in
their heroic efforts during and after Katrina, the
underlying commitment to public service of genetics
and geneticists, whether working in research,
clinical care or counseling.
Call for
ASHG Award Nominations: It's Time
to Recognize...
- Kenna Mills Shaw, ASHG Director of Education and Joann Boughman,
ASHG Executive Vice President
Portions of this text have been excerpted from
the August 2006 AJHG Society News
The American Society of Human Genetics is proud to
have a history of honoring those who have excelled
in human genetics research and education. The
achievements of our members are recognized each year
through the awards program. Award nominations are
currently being solicited from members for each of
these awards.
The Awards Committee, chaired by Dr. David Valle,
will convene later this spring to review
nominations. ASHG does not necessarily name awardees
for each award every year, saving the awards for the
most suitable, most deserving candidates.
Please consider nominating one of your colleagues or
mentors for one of the following four ASHG awards by
April 2, 2007, at the
ASHG Awards page.
Allan Award
The past five Allan Awardees:
2002 Albert de la Chapelle
2003 David Weatherall
2004 Louis M. Kunkel
2005 Francis S. Collins
2006 Dorothy Warburton
The Allan Award, the most prestigious award given by
the ASHG, was established in 1961 in memory of
William Allan (1881-1943), one of the first American
physicians to conduct extensive research in human
genetics. The Allan Award is presented annually to
recognize substantial and far-reaching scientific
contributions to human genetics, performed over a
sustained period of scientific inquiry and
productivity.
Award for Excellence in Human Genetics
Education
The past five Education Awardees:
2002 Kurt Hirschhorn
2003 Joan Marks
2004 Robert J. Gorlin
2005 Joseph D. McInerney
2006 Roberta Pagon
With the recognition that many members of ASHG have
contributed enormously to human genetics education,
this award was born of the Information and Education
Committee in 1995. Nominees for this award must have
made a nationally or international recognized
contribution of exceptional quality and great
importance to human genetics education. Examples
include producing a set of writings that has had a
major influence on human genetics education,
developing a course or curriculum that is widely
emulated, writing a book that has been adopted by
many universities, producing a popular television
series on medical genetics, developing a website, or
directing a fellowship program that has consistently
produced unusually successful graduates.
Curt Stern Award
The past five Curt Stern Awardees:
2002 James Lupski
2003 David Page
2004 Neil J. Risch
2005 Patrick O. Brown
2006 Hal Dietz
The Curt Stern Award was created in 2001 and honors
outstanding scientific achievements in human
genetics made in the past 10 years. The work may be
a single major discovery or a series of
contributions on a similar or related topic.
ASHG Leadership Award
Leadership Award Winner:
2006 David Rimoin
The Society’s most recent award, the ASHG Leadership
Award was presented for the first time in 2006. This
award is presented to colleagues closely related to
the human genetics community whose professional
achievements have fostered and enriched the
development of various human genetics disciplines.
Potential recipients should exemplify enduring
leadership and vision required to ensure that the
field of human genetics will flourish and
successfully assimilate into the broader context of
science, medicine, and health. They also may have
made major contributions to awareness or
understanding of human genetics by policy makers or
by the general public.
Please remember:
We encourage all ASHG members to consider nominating
a worthy individual. Deadline for nominations is
April 2, 2007. More information on each award and a
link to the online nomination forms, can be found on
the
ASHG Awards page.
The ASHG board of directors and staff in the
administrative office are continually looking for
ways to enhance your membership experience in ASHG.
Your recent responses to the ASHG Annual Meeting
survey have us busily reworking and adding events
for the 2007 meeting. Now we are asking for more
general feedback from our members about their
satisfaction with membership and how ASHG can better
serve you.
Recently, you received an e-mailed message about an
ASHG Membership Survey. We have extended the
deadline for response to this electronic survey
until February 22, 2007.
Please take the time now to make your opinions known
(about 15 minutes is needed). We are asking for your
input on a variety of topics, ranging from current
ASHG programming at the annual meeting to potential
future resources available for members.
All questions marked with an asterisk (*) require an
answer. While answers to the open-ended questions are not
required, we ask that you seriously consider
providing us with your honest feedback. Your
responses are anonymous so you can be
straightforward. We are looking for feedback from
all our members to ensure we are doing the most to
best serve you.
Your search has ended. Send your questions to Dear
Genie at
genie@ashg.org and look for answers,
advice, insights, and guidance in future issues of
SNP-IT.
Featured Question:
Dear Genie,
I was recently looking at the ASHG Web site
and I noticed that you have a list of all
the trainee award winners from the 2006
meeting. This seems like a great program. I
have come to the ASHG meeting three times
and have presented posters. My research is
high quality and I have published one strong
paper. The work that I presented as a poster
in New Orleans was just accepted for
publication in the AJHG. But I’ve never been
nominated for one of the ASHG trainee
awards. Is it true that advisors are
supposed to nominate their students? If so,
since my boss has never nominated me, does
it mean that he doesn’t think my research is
of the highest quality?
-Seeking Guidance (and the
chance for recognition)
Genie's Response:
Dear Seeking,
ASHG
has a long tradition of recognizing
the high-quality research of our
amazing trainees. We are extremely proud of this
history and hope that your research and that
of many other trainees will be apart of it
in the future. Indeed, it is true that ASHG
members who mentor students in their
laboratories are responsible for completing
and signing the nomination form for the
trainee awards presented at ASHG annual
meetings. The easy-to-complete form will be
available in early April as part of the
abstract submission program on the
ASHG Meeting Web site.
"ASHG
has a long tradition of recognizing
the high-quality research of our
amazing trainees."
The fact that your advisor has not nominated
your work (yet) is likely not a reflection
of his opinion of your skills or results.
Indeed, it is probably more a reflection of
his busy schedule and the fact that this
award is simply not on his radar (again,
yet!). I suggest that as soon as you have
written the abstract for your next ASHG
poster, you take it, along with the
nomination form, to your advisor and state
your case for being nominated. This is a
great time to work on humble diplomacy while
still promoting yourself and your research
excellence. By making your advisor aware of
your desire for nomination, along with
eloquently stating the reasons for the
nomination, you may just make your advisor
motivated enough to sign and submit your
nomination form!
Here is a brief review of the trainee award
selection process: All submitted abstracts
are reviewed and scored by at least three
reviewers assigned by the Program Committee.
The option to apply for a ASHG Trainee Award
is available as part of the online abstract
submission process. Trainee award scores are
reviewed and the top scoring trainee
abstracts are then sent to members of the
Awards Committee, who create a list of 15 to
18 finalists. Finalists are notified by mail
and told that their presentations will be
judged at the meeting by three reviewers and
members of the Awards Committee. On the last
day of the annual meeting, ASHG presents
awards of $500 each for outstanding research
presented in the following areas:
predoctoral clinical, postdoctoral clinical,
predoctoral basic, postdoctoral basic,
predoctoral translational, and postdoctoral
translational.
The selection process is a rigorous one to
ensure that ASHG awards the highest quality
research. Every year wonderful posters and
talks “fall through the cracks” because they
have not been nominated. If your work risks
being in this category, take the nomination
form and your case to your advisor and see
what happens.
Sincerely,
Genie
Dear Genie welcomes your questions and will read
them all, but even a genie can’t promise to respond
to every one. Questions selected for SNP-IT
may be edited for length and style.
You’ve been a member of ASHG. You have attended the
meetings and read the Journal cover to cover every
month. But perhaps you have been thinking about
becoming more involved in ASHG and just don’t know
how. Well, this is the place for you. In each issue
of SNP-IT we will feature a program that is
looking for participation by dedicated individuals
in the ASHG community.
This month, the focus is on our brand new
newsletter—and you. For the first issue, text for
SNP-IT was entirely staff generated. In the
future, we hope it will be member generated too! So
if you are interested in writing a single article
for a single issue, or generating a column included
in every issue, we would love to hear your ideas.
Some ideas for columns include:
Member Spotlight
“Dear Genie” (an advice column for ASHG trainees
and
for the general membership)
Minorities in Genetics
Evolution in Schools Monitor
We invite you to consider becoming a member of the
SNP-IT staff. Please contact us with your
ideas at
kshaw@ashg.org.
SNP-IT is published online four times a year,
in February, May, August and November. Copyright by
The American Society of Human Genetics.
Please direct all SNP-IT inquiries to Kenna
Mills Shaw, ASHG Director of Education, at
kshaw@ashg.org
For Society information, please
contact the ASHG Administrative Office, 9650
Rockville Pike, Bethesda, MD 20814-3998. Telephone:
301-634-7300; fax: 301-634-7090,
society@ashg.org
or visit ASHG on the Web:
www.ashg.org
Interested in being more involved in ASHG?
Check the "Getting into ASHG" column in each issue
of SNP-IT to learn about ways to use your
talents and help ASHG achieve its mission.
Deadlines for submitting articles and advertising to
Kenna Shaw
Issue
Deadline
May
April 13
August
July 13
November
October 12
For advertising cost and specifications, contact
Krista Koziol
April 25, 2007, marks the fifth annual
celebration of National DNA Day. Each year ASHG
collaborates with The Genetics Society of America
(GSA) and the National Human Genome Research
Institute (NHGRI) to coordinate a series of speakers
in K-12 classrooms across the country. Members of
the ASHG Mentor Network are contacted in the early
spring when teachers in their area request that a
geneticist speak to their class. ASHG and NHGRI have
developed a series of resources to assist speakers
in designing their own presentations to fit specific
grade levels and state standards. 
the loss of the
ESE.
