ISSN 2009-4345
IRISH DNA ATLAS
PROJECT NEWSLETTER
Scientia Pro Bono Humani Generis
Vol. 1 No. 1 www.familyhistory.ie October 2011
GENETIC GENEALOGY
NEW ALL-IRELAND PROJECT
The Genealogical Society of College of Surgeons in Ireland lation on the edge of Europe,
Ireland and the Royal College (RCSI) will direct all the scien- Ireland has a rich cultural
of Surgeons in Ireland have tific aspects of this new and heritage that is the product of
launched an important All- exciting project. ancient migrations from the
Ireland project to create a col- neighbouring island and from
lection of DNA samples from For over 200 years the RCSI mainland Europe.
individuals of Irish origin, has played a major role in
which will be used to explore medical education and training Understanding and preserving
human genetic variation in the in Ireland. Founded in 1784 to this history enriches our cul-
Irish population. train surgeons, today the Col- ture. Although historical re-
lege provides extensive educa- cords and archaeological stud-
Over the past decade or so tion and training in the health- ies have uncovered many
genealogists from around the care professions at undergradu- wonderful aspects of Irish
world have become increas- ate and postgraduate level. history, there are many ques-
ingly intrigued by the possi- tions left unanswered.
bilities afforded through the The RCSI is committed to per-
advances in genetic genealogy forming high levels of research This new group project will
A collaboration between the to augment or confirm our activity, and helping to drive provide valuable information
Genealogical Society of Ireland traditional record based re- the Irish economy through the on the migration and settle-
search. commercialising of intellectual ment patterns across the is-
and the property arising from its re- land of Ireland. This research
Royal College of Surgeons This new project is aimed at search, and the development of will assist historians and ar-
promoting an awareness, ap- collaborative links with indus- chaeologists in their analysis
in Ireland preciation and knowledge of try, educational and research of existing records or studies.
genetic genealogy. Operation- institutions both nationally and
ally the project has two internationally. However, this project is not
strands, genealogy and genet- just concerned with the move-
ics. This joint project will compile ments and interrelationships
an Irish DNA Atlas through the of population groups, it also
CONTENTS The Society appointed its Di-
rector of Archival Services,
collection of birth briefs and
DNA samples to investigate the
has an immensely valuable
contribution to the study of
Séamus O’Reilly, FGSI, to diversity of the Irish genome, the health of the people of
What is DNA? 2 coordinate the collection of the which is a valuable, yet largely Ireland. Participation in this
genealogical data. Dr. Gian- unexplored, resource of the project is certainly science for
piero Cavalleri of the Royal Irish nation. As an island popu- the benefit of mankind.
The Collection of the 2
Data
Eight Great Grand- 2 AIMS OF THE PROJECT
parents & NASC
The aims of the Irish DNA fluence health in Ireland tion, improve the nature of
Atlas Project are twofold, through the creation of a re- future treatments, including
The Project’s Two 3 genetic genealogy and health source for use as ‘healthy’ drug design or indeed lifestyle
Strands research. A greater under- controls in researching how decisions on how to prevent
standing human genetic varia- genes influence common dis- the development of disease in
Collaboration and 3 tion in the Irish population is eases in Ireland, including the first place. As the Royal
Partnerships required for two principal (though, not confined to) diabe- College of Surgeons is one of
purposes: (1) to further our tes, heart disease and cancer. Ireland’s foremost research
Project FAQs 4 knowledge of the population Through the collection and institutions, this project will
history of Ireland and its con- scientific analysis of this type have both a national and an
nections with other popula- of data it may be possible to international dimension in-
Essential Information 4 tions in Europe and (2) to help identify genetic risk factors for volving researchers in a num-
for ALL Participants us understand how genes in- disease and with this informa- ber of different fields.
A collaboration between the Genealogical Society of Ireland and the Royal College of Surgeons in Ireland
ISSN 2009-4345
PAGE 2 S C I E NT I A P R O B O NO HU MA NI G E NE R I S V O L. 1 NO . 1
What is DNA?
As we are all aware, the human body is which contain the genes. The usual num- some there are many different types of
made up of millions of cells, most consist ber of chromosomes in humans is forty-six mtDNA and they can be typical of a re-
of a complete set of our genes. These with one set of twenty-three inherited gion or historical group. Again, just like
genes contain the blueprint for the devel- from the mother and the other from the the Y chromosome they can tell us about
opment and functioning of our bodies. father. the ancestry of a person or a particular
They also contribute to our physical char- population. The difference is that the
acteristics such as height, eye, hair and Men carry a Y chromosome which is in- mtDNA explores the historical maternal
skin colours, blood type etc all inherited, herited from their father and their father’s line as opposed to the paternal line with
at least in part, from our parents and ulti- father before them through the generations the Y chromosome.
mately from our ancestors. very much like an inherited surname.
Whole genome approaches look at the
DNA is the chemical substance that makes There are many different types of Y chro- nature of the code across all of our DNA.
up these genes and therefore, DNA can be mosomes and just like a surname, they can This approach is very good for providing a
used to explore the genetic history of an be typical of a region or associated with broad picture of ancestry, for example
individual or a population. Three broad particular historical groups which have your DNA looks 100% “Irish” or you look
approaches are taken to genetic ancestry different origins, e.g. Norse, Pictish, An- 50% Irish, 25% French, 25% Italian. It
studies and these differ based on the sec- glo-Saxon, Irish, etc. Reading the Y chro- does not however, provide the resolution
tion of DNA that is being studied. They mosome code of an individual can tell us that the Y chromosome or mtDNA does
are (1) Y chromosome, (2) mitochondrial about the ancestry of that person or the for particular lineages.
DNA (mtDNA) and (3) whole genome. region from which they come.
These three general approaches are com- The Project team will apply all or a com-
Mitochondrial DNA is a section of DNA bination of the above approaches to ex-
plementary and have strengths and weak-
carried by both men and women but inher- plore the broad history of Ireland, particu-
nesses.
ited from their mother and their mother’s lar regions within Ireland and/or ethnic
Chromosomes are thread-like structures mother before them. Just like a Y chromo- groups resident in Ireland.
The Collection of the Data
The Irish DNA Atlas will create a DNA with a saliva collection kit (saliva is a rich profile of each participant. In order to
collection that allows genetic analysis of source of DNA!) and a brief questionnaire generate this profile the RCSI may on
population structure within Ireland, and to gather some general health information occasion be required to send your DNA to
ethnic groups across the island. Analysis and a pedigree chart (Birth Brief) to in- another institute, possibly overseas, with
of such a collection will reveal ancient clude all eight great grandparents. Each which the RSCI has a formal collaborative
demographic movements and inform on sample will be processed, stored and used agreement. Should the RCSI wish to send
the ancestry of specific regions and ethnic by the RCSI Biobanking Facility in Dub- any DNA sample to another laboratory or
groups within Ireland. The Irish DNA lin. During processing the Project will collaborating centre it will be sent in
Atlas will also create a DNA collection to assign an unique code to each individual coded format under the terms of a formal
act as controls in population based studies sample. However, the names and contact agreement and under equivalent data pro-
of health in Ireland. The Project aims to details of each participant will be kept on tection measures. Each participant will
recruit individuals representing each of the record by the RCSI as Dr. Cavalleri or receive an IDA Project Pack which in-
32 counties of Ireland. Participants may members of his team may wish to contact cludes the DNA sample kit, Birth Brief, a
opt to take part in either the historical or participants by telephone, letter or e-mail short health questionnaire for completion
medical components of the study or both. in the future. The Project will use each and a participation consent form which
The Project will provide each participant DNA sample to determine the genetic must be signed by each participant.
Eight Great Grandparents & NASC
Participants will be asked to supply a com- cluding historical, social and cultural. such close connections predate the forma-
pleted Birth Brief showing the genealogi- Therefore, having looked at all existing or tion of the existing county boundaries. As
cal details of their immediate ancestors former administrative boundaries it was to what constitutes a NASC depends en-
back to the eight great grandparents and to considered that a new formula—NASC— tirely on the information supplied by the
provide a DNA sample which is a simple was required. NASC stands for ’natural participant. Did the eight great grandpar-
saliva swab for analysis. All of the eight areas of social cohesion’ and takes ac- ents live, for example, within a 30 kilome-
great grandparents should come from the count for communities that straddle county tre radius of the participant’s ancestral
same general area so that their DNA repre- boundaries. For example communities homestead? This would easily represent a
sents that particular region of Ireland. The living in south Co. Wicklow and north Co. NASC. The Project team will monitor the
Project team had originally considered Wexford are like to have more in common entries received to ensure that each of the
using the county boundaries as the re- with each other than with the rest of their 32 counties of Ireland is covered by the
search areas, however, this proved to be respective counties. This situation exists research and therefore, the Project may
problematic from many perspectives in- throughout Ireland and, in many cases, concentrate on certain areas over time.
A collaboration between the Genealogical Society of Ireland and the Royal College of Surgeons in Ireland
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V O L. 1 NO . 1 S C I E NT I A P R O B O NO HU MA NI G E NE R I S PAGE 3
The Project’s Two Strands
The project’s aims are both historical and ford University with Prof. Luca Cavalli- of the collections including the sizeable
medical and it has essentially two strands - Sforza and Dr Peter Underhill. Dr. manuscript collection. Séamus planned
one dealing with the collection of the ge- Cavalleri completed a PhD at University and directed the successful relocation of
nealogical data and the other dealing with College London under Prof. David Gold- the archival collections to their current
the scientific analysis and interpretation of stein studying the genetics of epilepsy location at the Carlisle Pier in Dún
the DNA samples. Participants may opt to predisposition and treatment. He is cur- Laoghaire in 2010. He instituted proce-
take part in either the historical or medical rently researching the genetics and phar- dures for the secure storage and the speedy
components of the study or both and sup- macogenetics of epilepsy at the Royal retrieval of items for research. As the
ply information accordingly. College of Surgeons, Dublin, Ireland. Dr. Archive continues to grow, Séamus has
Cavalleri was the scientific consultant on embarked on an ambitious plan to scan
SCIENTIFIC ANALYSIS the very popular television documentaries and upload to the website all the articles
‘The Blood of the Irish’ and ‘The Blood of published in the Society’s Journals and to
The scientific aspects of the Travellers’. have an on-line catalogue of all the collec-
the Irish DNA Atlas pro- tions. The collection of the genealogical
ject will be directed by GENEALOGICAL DATA data and the collation of the information
Dr. Gianpiero L. will be undertaken by Séamus in the Soci-
Cavalleri of the Royal The promotion of the project and the col- ety’s Archive & Research Centre—An
College of Surgeon in lection of the genealogical data will be Daonchartlann—at the Carlisle Pier in
Ireland. Dr. Cavalleri is a coordinated by Séamus O’Reilly, FGSI, Dún Laoghaire, Co. Dublin. Séamus will
Senior Scientist, of Ital- Director of Archival Services. Séamus examine the genealogical data submitted
ian parentage but born and raised in Ire- was appointed to the position of Archivist to ensure that it meets the criteria for the
land, is a population geneticist who trained by the Board of the Society in 2005. Since scientific study to be undertaken by Dr.
with Prof. Dan Bradley at Trinity College, taking over the position he has concen- Cavalleri. Séamus can be contacted on
Dublin before going on to work at Stan- trated on the computerization and sorting Irish.DNA@familyhistory.ie
Health and Lifestyle Issues
Normally the participant will not receive genetic counselling. Genetic counselling ing the commercial sector including phar-
any results from this study unless the Pro- provides information and support for peo- maceutical companies. Through the col-
ject team identifies something it thinks is ple who are concerned about a medical lection and scientific analysis of this type
of importance to the participant’s own condition that may have a genetic basis. of data it may be possible to predict dis-
health. Participants should fully appreci- Although participating in this study will eases and help improve the nature of fu-
ate that, as with any other health investiga- not be of direct benefit to each participant, ture treatments, including drug design or
tion, this research has the potential to it is important scientifically. Information lifestyle decisions. It should be fully un-
identify a genetic change that could be arising from this study has the potential to derstood that any involvement of the com-
important in your lifestyle decisions. improve our understanding of common mercial sector will be through collabora-
Should the Project team identify such a diseases such as cancer and cardiovascular tion or partnership with the RCSI involv-
genetic signature that it deems to be of disease and, of course, provide valuable ing formal assurances that equivalent data
extreme clinical relevance and of import new information of the origin and move- protection measures will be upheld by the
to lifestyle decisions, the Project team at ment of populations on the island of Ire- commercial partner. The Project has been
the RCSI will contact the participant con- land. Information from a participant’s approved by the Ethics Committee of the
cerned offering the result together with sample could be used for research involv- Royal College of Surgeons in Ireland.
Collaboration and Partnerships
As with all scientific or academic research velopment of collaborative links with in- This Irish DNA Atlas Project will contrib-
in Ireland, the development of collabora- dustry, educational and research institu- ute significantly to our knowledge of the
tive endeavours and partnerships with tions at home and abroad. The commercial- genetic composition of the Irish popula-
fellow researches at home and overseas is ising of the intellectual property arising tion and provide invaluable research in-
essential. The Project team at the RCSI is from research at the RCSI brings the bene- formation on certain health issues. How-
keenly aware that it needs to be are the fits of that research to the public by way of ever, it is essential if the true potential of
forefront of genetic research in Ireland medical devices, procedures, treatments or the research is to be achieved that col-
and indeed, in the world. As an institution, drugs. Ireland needs to be proactive in this laborative endeavours and research part-
the RCSI is totally committed to perform- regard to attract the best graduates into nerships are secured, especially with the
ing high levels of research activity and to such research and indeed, to secure the scientific and medical industries. For
commercialising intellectual property research funding required for the develop- further information please contact Dr.
arising from its research through the de- ment of new medicines or technologies. Gianpiero Cavalleri at the RCSI.
A collaboration between the Genealogical Society of Ireland and the Royal College of Surgeons in Ireland
ISSN 2009-4345
IRISH DNA ATLAS PROJECT NEWSLETTER
is published by the PROJECT FAQs
Genealogical Society of Ireland Limited
11, Desmond Avenue, Dún Laoghaire, Co. Dublin, Ireland Does participation in the Irish DNA Atlas Project cost anything?
E-mail: Irish.DNA@familyhistory.ie Answer: There is absolutely no cost other than the return postage of the
Website: www.familyhistory.ie Birth Brief and the sample.
Board of Directors 2011-2012 Does each participant receive an analysis of their own DNA?
Pádraic Ingoldsby (Cathaoirleach : Chairperson); Gerry Hayden Answer: No. Participation is on a pro bono basis providing information
(Leas-Chathaoirleach : Vice Chair); Michael Merrigan (General for the analysis of the samples by the RCSI. The Project team can direct
Secretary : Company Secretary & Publications); Billy Saunderson participants to institutions providing DNA services.
(Finance); Tom Conlon (Sales, Marketing & Membership); Séamus
O’Reilly (Archive); Barry O’Connor (Cemetery Projects); Séamus
Moriarty (Lecture Programme), John Hamrock (Education & Social Will the Irish DNA Atlas be published?
Inclusion) Bartosz Kozłowski (Poland) (Internet Services) and Eddie
Gahan (Research Info. Services). Answer: The Project team at the RCSI will publish the findings of the
research in the appropriate medical and scientific journals. Individual par-
ticipants will not be identifiable within such publications.
An Daonchartlann Is the DNA information supplied by the participant confidential?
The Society’s archive and research centre ‘An
Daonchartlann’ is situated at the Carlisle Pier (Old Answer: The DNA samples receive a specific code and all research con-
Mail-Boat Pier) in Dún Laoghaire. The facility is open ducted by the Project team at the RCSI will be based on the code and not
each Wednesday and Friday between 10.30hrs and the name of the participant.
16.30hrs (except 4th Weds. Open at 13.00hrs) to
Is participation confined to existing members of the Genealogical Society
provide free family history advice. An Daonchartlann
of Ireland?
will be the base for the administration of the
genealogical elements of the Irish DNA Atlas Project Answer: No. This is an All-Ireland project open to anybody fitting the
and a collection point for completed Birth Briefs and research criteria and agreeing to the terms and conditions of participation.
sample kits. Interested in participating in the project?
Just drop into the GSI Archive & Research Centre on Is participation confined to people resident on the island of Ireland?
any of the above days or contact Séamus O’Reilly,
FGSI, by e-mail on Irish.DNA@familyhistory.ie All Answer: No. If all of your eight great grandparents come from Ireland
queries regarding the scientific or health aspects of the and meet the criteria, terms and conditions of participation that’s fine.
project should be forwarded to Dr. Cavalleri directly.
For further information please contact: Irish.DNA@familyhistory.ie
IRISH DNA ATLAS
Essential Information PROJECT NEWSLETTER
for ALL Participants This Newsletter is an occasional publica-
tion of the Irish DNA Atlas Project and is
Participation in the Irish DNA Atlas Pro- the research, will be presented with a con- intended to provide information on the
ject is strictly on a pro bono basis for all fidential questionnaire on general health Project for participants, members of the
participants. All genetic data will be stud- issues, containing for example, questions Genealogical Society of Ireland and the
ied in a specially designed coded format on whether you have ever been diagnosed general public. Further issues of this
by which individual participants cannot be with high blood pressure; experienced a Newsletter will be published, as and when
identified by name. This special code heart attack or a stroke; suffer from diabe- required, to provide an update on the Pro-
linking each participant to their DNA tes (type 1 or type 2); ever been diagnosed ject or to recruit participants from specific
sample will be held securely by the main with epilepsy, autism, bipolar disorder or areas of the island of Ireland. It is intended
investigator Dr. Cavalleri. This informa- schizophrenia; or ever been diagnosed that the RCSI will determine the duration
tion will not be used for any other purpose with cancer. This information is strictly and scope of the Project depending on the
other than for this particular Project. The confidential and is provided in a sealed levels and the spread of the participation
results of the study, including data gener- envelope along with your DNA saliva achieved. Interim reports on the progress
ated, may be shared with other scientists sample. This information will only be or findings of the Project may be pub-
and published at a later date, but the accessible to Dr. Cavalleri and his team at lished by the RCSI or the Project team in
names of the participants will not appear the RCSI. All participants will be required scientific, health or other academic jour-
in such publications. As with any study to sign a consent form, a copy of which nals. It is not intended to publish such
involving clinical or genetic information will be returned for their own personal reports or analyses of the research data in
the risk of data loss or misplacement is records. Participants are strongly advised this Newsletter and therefore, all enquiries
always present. The Project will take ut- to keep a copy of this issue of the Irish in respect of such should be forwared
most precautions to avoid such complica- DNA Atlas Project Newsletter for future directly to the Project’s Scientific Direc-
tions. Participants have the absolute right reference. It is the responsibility of each tor, Dr. Gianpiero Cavalleri, by e-mail at
to withdraw from the Project at any stage, participant to ensure that he/she under- gcavalleri@rcsi.ie or by mail to:
for whatever reason. The sample will then stands all the information presented by the Dr. Gianpiero Cavalleri, Molecular and
be destroyed and the genealogical infor- Project team before agreeing to participate Cellular Therapeutics, The Royal College
mation provided will be returned to the in this study. The Project team will en- of Surgeons, 123, St. Stephen’s Green,
former participant. Each participant opting deavour to answer any queries that intend- Dublin 2, Ireland.
to take part in the medical component of ing participants may have on the Project.
A collaboration between the Genealogical Society of Ireland and the Royal College of Surgeons in Ireland