Irish DNA Atlas Project Newsletter - Vol. 1 No. 1

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					                                                                                                                      ISSN 2009-4345

                        PROJECT NEWSLETTER
                                           Scientia Pro Bono Humani Generis
Vol. 1 No. 1                                                                                 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

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-
                                               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
                                                                                                                            ISSN 2009-4345

         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 

                             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

                  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:                         Answer: There is absolutely no cost other than the return postage of the
               Website:                              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 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 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- 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

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Description: Irish DNA Atlas project - a collaboration betwen the Royal College of Surgeons in Ireland (RCSI) and the Genealogical Society of Ireland.