Haplotype Sharing Provides Insights Into Fine-Scale Population History And
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This Document Has Been Downloaded from Tampub – the Institutional Repository of University of Tampere
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Trepo - Institutional Repository of Tampere University This document has been downloaded from Tampub – The Institutional Repository of University of Tampere Post-print Authors: Häkli Jouni Cultures of demarcation : territory and national identity in Name of article: Finland Name of work: Nested identities : identity, territory, and scale Editors of work: Herb Guntram H., Kaplan David H. Year of 1999 publication: ISBN: 0-8476-8466-0 Publisher: Rowman & Littlefield Pages: 123-149 Discipline: Social sciences / Social and economic geography Language: en URN: http://urn.fi/urn:nbn:uta-3-959 All material supplied via TamPub is protected by copyright and other intellectual property rights, and duplication or sale of all part of any of the repository collections is not permitted, except that material may be duplicated by you for your research use or educational purposes in electronic or print form. You must obtain permission for any other use. Electronic or print copies may not be offered, whether for sale or otherwise to anyone who is not an authorized user. Author’s copy. Originally published in Guntram H. Herb & D. H. Kaplan (eds.). Nested identities: Identity, Territory, and Scale. Lanham: Rowman & Littlefield (1999), 123-149. Cultures of Demarcation: Territory and National Identity in Finland JOUNI HÄKLI Introduction This chapter explores the significance of geographical scale in the negotiation of spatial identities, and especially attempts to understand the processes of nation- building in Finland, which stands out as an exceptional case among the several "successor states" born out of the European geopolitical turmoil in the turn of the 19th and 20th centuries. -
Unmet Medical Device Needs for Patients with Rare Diseases
Contents Page i CONTENTS Executive Summary ...................................................................................................................... ii Background ................................................................................................................................. ii Methods ....................................................................................................................................... ii Survey Respondents ................................................................................................................... iii Findings ...................................................................................................................................... iii Introduction ................................................................................................................................... 1 Unmet Device Needs in Rare Diseases ....................................................................................... 1 Purpose of This Needs Assessment ............................................................................................. 2 Methods .......................................................................................................................................... 4 Stakeholder Consultations ........................................................................................................... 4 Survey Methodology .................................................................................................................. -
The Kainuu Regional Experiment
SJPA The Kainuu regional experiment: deliberate and 19(4) unintended effects of scaling local government tasks to the regional level Arto Haveri, Jenni Airaksinen and Anni Jäntti* Abstract Arto Haveri This article examines the deliberate and unintended effects of the Kainuu Regional Exper- School of Management, iment, a regional reform where some important local government tasks were rescaled to University of Tampere the regional level. The analysis is based on the empirical results of a long-running evalua- [email protected] tion study. In Kainuu, the new regional government was successful in securing the quality Jenni Airaksinen and availability of welfare services, but in the task of regional development ‒ creating School of Management, new growth and development ‒ its role has been practically secondary, and in some cases University of Tampere the new regional government has been marginalised by the tensions built into it during the rescaling process. The Kainuu experiment exemplifies a case of rescaling where some Anni Jäntti (political) tensions between two perspectives/factors, service and development, were School of Management, rescaled together with local government functions, reflecting the reformer’s problem that University of Tampere it is extremely difficult to achieve many different outcomes with one governance expedi- ent. Altering the scale of governance has consequences for political decision-making, power structures, institutions, and citizens. Rescaling through a restructuring of hierarchy may produce different outcomes -
Economic Development of Ultra Small Peripheral Regions of West Europe (Case of Aland and Faroe Islands)
A Service of Leibniz-Informationszentrum econstor Wirtschaft Leibniz Information Centre Make Your Publications Visible. zbw for Economics Efimova, Elena; Kuznetsova, Natalia Conference Paper Economic development of ultra small peripheral regions of West Europe (Case of Aland and Faroe islands) 54th Congress of the European Regional Science Association: "Regional development & globalisation: Best practices", 26-29 August 2014, St. Petersburg, Russia Provided in Cooperation with: European Regional Science Association (ERSA) Suggested Citation: Efimova, Elena; Kuznetsova, Natalia (2014) : Economic development of ultra small peripheral regions of West Europe (Case of Aland and Faroe islands), 54th Congress of the European Regional Science Association: "Regional development & globalisation: Best practices", 26-29 August 2014, St. Petersburg, Russia, European Regional Science Association (ERSA), Louvain-la-Neuve This Version is available at: http://hdl.handle.net/10419/124527 Standard-Nutzungsbedingungen: Terms of use: Die Dokumente auf EconStor dürfen zu eigenen wissenschaftlichen Documents in EconStor may be saved and copied for your Zwecken und zum Privatgebrauch gespeichert und kopiert werden. personal and scholarly purposes. Sie dürfen die Dokumente nicht für öffentliche oder kommerzielle You are not to copy documents for public or commercial Zwecke vervielfältigen, öffentlich ausstellen, öffentlich zugänglich purposes, to exhibit the documents publicly, to make them machen, vertreiben oder anderweitig nutzen. publicly available on the internet, or to distribute or otherwise use the documents in public. Sofern die Verfasser die Dokumente unter Open-Content-Lizenzen (insbesondere CC-Lizenzen) zur Verfügung gestellt haben sollten, If the documents have been made available under an Open gelten abweichend von diesen Nutzungsbedingungen die in der dort Content Licence (especially Creative Commons Licences), you genannten Lizenz gewährten Nutzungsrechte. -
Disease Gene Mapping in Isolated Human Populations: the Example of Finland
J Med Genet 1993; 30: 857-865 857 MEDICAL GENETICS AROUND THE WORLD J Med Genet: first published as 10.1136/jmg.30.10.857 on 1 October 1993. Downloaded from Disease gene mapping in isolated human populations: the example of Finland Albert de la Chapelle The recent surge of interest in isolated human published ones. Moreover, ascertainment is populations can be attributed largely to the usually more complete in Finland than in advances in molecular genetics that now ap- many other populations. Third, not surpris- pear to produce an endless array of new data. ingly, recent evidence suggests that the figures However, the organised study of inherited for cases 'elsewhere' will often turn out to be traits and disorders in isolated populations much higher. For instance, retinoschisis is started several decades ago. For example, at increasingly diagnosed in unrelated patients the beginning of the second half of this century worldwide,'3 progressive myoclonus epilepsy several enthusiastic investigators at the De- appears to be quite prevalent in the Mediter- partment of Paediatrics, University ofHelsinki ranean region,'4 and congenital chloride diar- began to document rare diseases in Finns that rhoea occurs with high frequency in Poland'5 either had not been previously described or and around the Persian Gulf.'6 In conclusion, were very rare elsewhere. The 'flagship' dis- however, most of the disorders listed in tables ease was congenital nephrosis described by 1 and 2 show remarkably high incidences in Hallman et all and established as an autosomal Finland relative to most other populations. recessive disorder by Norio.2 These were the heydays of biochemical genetics. -
The Finnish Archipelago Coast from AD 500 to 1550 – a Zone of Interaction
The Finnish Archipelago Coast from AD 500 to 1550 – a Zone of Interaction Tapani Tuovinen [email protected], [email protected] Abstract New archaeological, historical, paleoecological and onomastic evidence indicates Iron Age settle- ment on the archipelago coast of Uusimaa, a region which traditionally has been perceived as deso- lated during the Iron Age. This view, which has pertained to large parts of the archipelago coast, can be traced back to the early period of field archaeology, when an initial conception of the archipelago as an unsettled and insignificant territory took form. Over time, the idea has been rendered possible by the unbalance between the archaeological evidence and the written sources, the predominant trend of archaeology towards the mainland (the terrestrical paradigm), and the history culture of wilderness. Wilderness was an important platform for the nationalistic constructions of early Finnishness. The thesis about the Iron Age archipelago as an untouched no-man’s land was a history politically convenient tacit agreement between the Finnish- and the Swedish-minded scholars. It can be seen as a part of the post-war demand for a common view of history. A geographical model of the present-day archaeological, historical and palaeoecological evi- dence of the archipelago coast is suggested. Keywords: Finland, Iron Age, Middle Ages, archipelago, settlement studies, nationalism, history, culture, wilderness, borderlands. 1. The coastal Uusimaa revisited er the country had inhabitants at all during the Bronze Age (Aspelin 1875: 58). This drastic The early Finnish settlement archaeologists of- interpretation developed into a long-term re- ten treated the question of whether the country search tradition that contains the idea of easily was settled at all during the prehistory: were perishable human communities and abandoned people in some sense active there, or was the regions. -
Orphan Drug Act and the Development of Products for Rare Diseases
The Orphan Drug Act and the Development of Products for Rare Diseases Mathew T. Thomas, MD Office of Orphan Products Development Food and Drug Administration Telephone: 301-827-3666 Email: [email protected] The Office of Orphan Drug Development at the FDA works closely and in collaboration with the Office of Rare Disease Research Presentation Outline • Orphan Drug Act (1983) • “Orphan” drugs and diseases • Functions of the Office of Orphan Product Development (OOPD) • Financial incentives of orphan drug status • OOPD grant program • Incentive for tropical disease products • OOPD device regulation TheThe U.S.U.S. OrphanOrphan DrugDrug ActAct (ODA)(ODA) SignedSigned inin 19831983 US Congress established the public policy that the Federal Government could/would assist in the development of products for the diagnosis, prevention or treatment of rare diseases or conditions. WhatWhat isis anan OrphanOrphan Drug?Drug? • A drug (or biologic) intended to treat a rare disease or condition affecting fewer than 200,000 persons in the United States or • A drug (or biologic) which will not be profitable within 7 years following approval by the U.S. Food & Drug Administration What is an Orphan Disease? • Affects <200,000 persons in the US • Affects >200,000 in US, no expectation that therapeutic development costs will be recovered from sales in the US • 6,000 rare diseases • Affects 25 million Americans Principle functions of the FDA Office of Orphan Product Development. 1. Designate drugs as having “orphan status” 2. Award grants for clinical -
FOOTPRINTS in the SNOW the Long History of Arctic Finland
Maria Lähteenmäki FOOTPRINTS IN THE SNOW The Long History of Arctic Finland Prime Minister’s Office Publications 12 / 2017 Prime Minister’s Office Publications 12/2017 Maria Lähteenmäki Footprints in the Snow The Long History of Arctic Finland Info boxes: Sirpa Aalto, Alfred Colpaert, Annette Forsén, Henna Haapala, Hannu Halinen, Kristiina Kalleinen, Irmeli Mustalahti, Päivi Maria Pihlaja, Jukka Tuhkuri, Pasi Tuunainen English translation by Malcolm Hicks Prime Minister’s Office, Helsinki 2017 Prime Minister’s Office ISBN print: 978-952-287-428-3 Cover: Photograph on the visiting card of the explorer Professor Adolf Erik Nordenskiöld. Taken by Carl Lundelius in Stockholm in the 1890s. Courtesy of the National Board of Antiquities. Layout: Publications, Government Administration Department Finland 100’ centenary project (vnk.fi/suomi100) @ Writers and Prime Minister’s Office Helsinki 2017 Description sheet Published by Prime Minister’s Office June 9 2017 Authors Maria Lähteenmäki Title of Footprints in the Snow. The Long History of Arctic Finland publication Series and Prime Minister’s Office Publications publication number 12/2017 ISBN (printed) 978-952-287-428-3 ISSN (printed) 0782-6028 ISBN PDF 978-952-287-429-0 ISSN (PDF) 1799-7828 Website address URN:ISBN:978-952-287-429-0 (URN) Pages 218 Language English Keywords Arctic policy, Northernness, Finland, history Abstract Finland’s geographical location and its history in the north of Europe, mainly between the latitudes 60 and 70 degrees north, give the clearest description of its Arctic status and nature. Viewed from the perspective of several hundred years of history, the Arctic character and Northernness have never been recorded in the development plans or government programmes for the area that later became known as Finland in as much detail as they were in Finland’s Arctic Strategy published in 2010. -
Dual Origins of Finns Revealed by Y Chromosome Haplotype Variation Rick A
View metadata, citation and similar papers at core.ac.uk brought to you by CORE provided by Elsevier - Publisher Connector Am. J. Hum. Genet. 62:1171–1179, 1998 Dual Origins of Finns Revealed by Y Chromosome Haplotype Variation Rick A. Kittles,1 Markus Perola,4 Leena Peltonen,4 Andrew W. Bergen,2 Richard A. Aragon,2 Matti Virkkunen,5 Markku Linnoila,3 David Goldman,2 and Jeffrey C. Long1 1Section on Population Genetics and Linkage, 2Laboratory of Neurogenetics, and 3Laboratory of Clinical Studies, National Institute on Alcohol Abuse and Alcoholism, National Institutes of Health, Bethesda; 4Department of Human Molecular Genetics, National Public Health Institute, and 5Department of Psychiatry, University of Helsinki, Helsinki Summary studies on genetic disorders, has increased rapidly. At present, there are 133 rare genetic diseases that are more The Finnish population has often been viewed as an prevalent in Finland than in other populations (de la isolate founded 2,000 years ago via a route across the Chapelle 1993). The high prevalence of these rare dis- Gulf of Finland. The founding event has been charac- eases has been attributed to founder effects resulting terized as involving a limited number of homogeneous from Finland’s unique population history. This unique- founders, isolation, and subsequent rapid population ness is conspicuously reflected by the fact that, unlike growth. Despite the purported isolation of the popula- most other Europeans, Finns do not speak an Indo-Eur- tion, levels of gene diversity for the Finns at autosomal opean language. Finnish is a member dialect of the Uralic and mitochondrial DNA loci are indistinguishable from language family, whose only other speakers within Eu- those of other Europeans. -
1St Quarter 2020
1st Quarter, 2020 PORPHYRIA AWARENESS WEEK 2020 APRIL 18-25 #ASKMEABOUTPORPHYRIA Porphyria Awareness week is an op- pated in health fairs, educational seminars, portunity for you to create awareness fundraising and various media events. As in your community! We strive to dedicate we prepare for Porphyria Awareness Week, this week to promote Porphyria, reduce the we want to encourage you to enhance and stigma associated with porphyria through raise porphyria awareness within your local education and provide support for those communities. affected. The American Porphyria Foundation will The American Porphyria Foundation is here continue to partner with other internation- to support you with ideas, brochures, ma- al porphyria advocacy organizations to in- terials, social media fi les (including Logo crease awareness around porphyria. Files, DVDs, Porphyria Fact Sheets, Press Release – and any other support that you What are your plans this year for Porphyr- may need to raise awareness about Por- ia Awareness Week? We want to know - phyria in your community, to the general Send your plans to Iany Schneider, APF public or to physicians. In recent years, many of you have partici- Offi ce Manager, via email at [email protected]. WHAT CAN YOU DO? Wear purple for Porphyria! Some have had a class or an offi ce Assist at medical conventions or health fairs wear purple for the day in support of porphyria. to educate laypersons and physicians on porphyria. Ask your hospital or doctor if there is a local meeting Educate friends and family. Send an email, a so- where you can hand out materials or tell your expe- cial media post, or send a letter about your experience rience. -
Geographical Variation in Risk HLA- DQB1 Genotypes for Type 1 Diabetes and Signs of ß-Cell Autoimmunity in a High-Incidence
Epidemiology/Health Services/Psychosocial Research ORIGINAL ARTICLE Geographical Variation in Risk HLA- DQB1 Genotypes for Type 1 Diabetes and Signs of -Cell Autoimmunity in a High-Incidence Country 1,2 1,6 MARIKA KUKKO, MD SARI KORHONEN, MD he epidemiological map of type 1 di- 1,2,3,4 1,7 SUVI M. VIRTANEN, MD, MSC, PHD JORMA ILONEN, MD, PHD abetes that has been drawn over the 1,2 1,5 ANNA TOIVONEN, MD OLLI SIMEL, MD, PHD 1,5 1,2,8 last few decades shows marked dif- ATU IMELL MD IKAEL NIP MD, PHD T S S , M K , ferences in the incidence of the disease among countries and various racial groups (1,2). The reasons behind these differences have remained poorly de- fined, but both genetic and environmen- OBJECTIVE — To assess possible differences in the frequency of HLA-DQB1 risk genotypes and the emergence of signs of -cell autoimmunity among three geographical regions in Finland. tal factors may contribute to them. Type 1 diabetes is a polygenic disorder, but it has RESEARCH DESIGN AND METHODS — The series comprised 4,642 children with been estimated that the genes of the HLA increased HLA-DQB1–defined genetic risk of type 1 diabetes from the Diabetes Prediction and complex explain 30–60% of its familial Prevention (DIPP) study: 1,793 (38.6%) born in Turku, 1,646 (35.5%) in Oulu, and 1,203 clustering (3). The main genes contribut- (25.9%) in Tampere. These children were examined frequently for the emergence of signs of ing to disease susceptibility are located in -cell autoimmunity, for the primary screening of which islet cell antibodies (ICA) were used. -
Here Are Some of the Points I Would Like to Make As a Finnish Mother of a Intellectually Disabled Rare Disease Child and Patient Group Activist
Hi! Here are some of the points I would like to make as a Finnish mother of a intellectually disabled rare disease child and patient group activist. Question 1: Is the current EU definition of a rare disease satisfactory? I would like the words "or rare syndrome" to be included in the definition of rare disease which I otherwise agree with. Question 2: Do you agree that there is a pressing need to improve coding and classification in this area? Yes. For example microdeletion syndromes are very individual and the diagnosis or classification may be based on known phenotype of an individual gene in the microdeletion area. Question 4: Should the European Reference Networks privilege the transfer of knowledge? The mobility of patients? Both? How? I would prefer one national center for rare disease or syndromes with congenital heart conditions. We are willing to travel to the capital from the north in order to see doctors with adequate expertise. There are no specialists in the country for my child's condition. Nearest ones are in the UK but traveling there is too much to manage. As a requirement for centers of reference for rare disease I have to insist that clear practical instructions are set that include for an example intellectually disabled, non-verbal and severely disabled rare disease patients to get the same level of care as everyone else. Active control and measurement of discrimination in the health care "chain" also in the form of delay in receiving care must be required and results published EU wide. Although this might seem unneccesary in light of real cases that have to my attention recently it is not given that doctors would not refuse blood tests, IV-fluids or referrals to specialists if the patient is severely disabled or intellectually disabled and often this discrimination is not recorded in the system at all.