Schloss and Schoeneberg family portrait on the occasion of the 80th birthday of Jeanette Bildesheim nee Schoeneberg.

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Benno Strauss (far right) with unidentified family members.

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The other country: A father's journey with autism

The memoir The Other Country and the essay Inspiration is Power examine i) contemporary experiences of autism and ii) the representation of autism disorder in scientific and autobiographical writing. The Other Country is a memoir of four years in the life of its author Michael Whelan, and his family, in the care of his son, Charlie. In February 1998, Charlie was diagnosed with autism, and in that moment Michael and his family's lives changed. The memoir describes in four parts a four-year journey through a father?s experiences: - Part 1, Welcome to Holland, the family's feelings of fear, grief and dislocation following diagnosis; - Part 2, Look at Me, the chaotic process of research and treatment, and intense early intervention programs; - Part 3, The Enchanted Cottage, the slow process of recovery that the family went through, and; - Part 4, The Long Way Home, the transformation of Charlie, Michael and his family and notions of home and normalcy. The title, The Other Country, in this context refers to the largely invisible parallel society inhabited by anyone who lives outside the mainstream. The accompanying critical essay, Inspiration is Power, examines the influence of the discourses of biomedical science and parental pathology on the representation and understanding of autism. Specifically, among autism narratives, the medical voice has an overwhelming authority and power in characterizing autistic disorder and experience for the lay reader. This discourse contests the moral authority of parental autobiographical writing, which, by contrast, characterizes autism as a personalized invading other and thief of their child. Through a critique of specific aspects of identity, narrative, evidence and authority, the essay suggests a register of rhetorical moves that may be employed to influence, and consequently empower, the reader of autism narratives.

Pedigree of the Jacob family of Stavenhagen, Mecklenburg, Germany.

Family tree and genealogy of Jacob family in Stavenhagen, Mecklenburg, 1690-1975.

Family portrait at double wedding ceremony of the Heimann and Rosenfelder families Portraits; Family

Double Wedding Ceremony Heimann-Rosenfelder August 17, 1909

Painting of Freiherr Martin von Magnus Family Portraits Family

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Search for genetic variants influencing human height

Human growth and attained height are determined by a combination of genetic and environmental effects and in modern Western societies > 80% of the observed variation in height is determined by genetic factors. Height is a fundamental human trait that is associated with many socioeconomic and psychosocial factors and health measures, however little is known of the identity of the specific genes that influence height variation in the general population. This thesis work aimed to identify the genetic variants that influence height in the general population by genome-wide linkage analysis utilizing large family samples. The study focused on analysis of three separate sets of families consisting of: 1) 1,417 individuals from 277 Finnish families (FinnHeight), 2) 8,450 individuals from 3,817 families from Australia and Europe (EUHeight) and 3) 9,306 individuals from 3,302 families from the United States (USHeight). The most significant finding in this study was found in the Finnish family sample where we a locus in the chromosomal region 1p21 was linked to adult height. Several regions showed evidence for linkage in the Australian, European and US families with 8q21 and 15q25 being the most significant. The region on 1p21 was followed up with further studies and we were able to show that the collagen 11-alpha-1 gene (COL11A1) residing at this location was associated with adult height. This association was also confirmed in an independent Finnish population cohort (Health 2000) consisting of 6,542 individuals. From this population sample, we estimated that homozygous males and females for this gene variant were 1.1 and 0.6 cm taller than the respective controls. In this thesis work we identified a gene variant in the COL11A1 gene that influences human height, although this variant alone explains only 0.1% of height variation in the Finnish population. We also demonstrated in this study that special stratification strategies such as performing sex-limited analyses, focusing on dizygous twin pairs, analyzing ethnic groups within a population separately and utilizing homogenous populations such as the Finns can improve the statistical power of finding QTL significantly. Also, we concluded from the results of this study that even though genetic effects explain a great proportion of height variance, it is likely that there are tens or even hundreds of genes with small individual effects underlying the genetic architecture of height.

Achtentuch family portrait; Odessa Portraits Family

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Jacob Picard with daughter Renate Portraits Family

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Studio portrait of Cora Berliner with her mother and sister; Hannover Portraits Family

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Bernstein-Kohlberg Portraits Family

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Valentin family portrait on the occasion of the 50th Wedding Anniversary of Heinrich and Helene Valentin; Berlin Portraits Groups

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Insights into the molecular genetics of celiac disease : Applying family- and population-based strategies

Celiac disease, or gluten intolerance, is triggered by dietary glutens in genetically susceptible individuals and it affects approximately 1% of the Caucasian population. The best known genetic risk factors for celiac disease are HLA DQ2 and DQ8 heterodimers, which are necessary for the development of the disease. However, they alone are not sufficient for disease induction, other risk factors are required. This thesis investigated genetic factors for celiac disease, concentrating on susceptibility loci on chromosomes 5q31-q33, 19p13 and 2q12 previously reported in genome-wide linkage and association studies. In addition, a novel genotyping method for the detection of HLA DQ2 and DQ8 coding haplotypes was validated. This study was conducted using Finnish and Hungarian family materials, and Finnish, Hungarian and Italian case-control materials. Genetic linkage and association were analysed in these materials using candidate gene and fine-mapping approaches. The results confirmed linkage to celiac disease on the chromosomal regions 5q31-q33 and 19p13. Fine-mapping on chromosome 5q31-q33 revealed several modest associations in the region, and highlighted the need for further investigations to locate the causal risk variants. The MYO9B gene on chromosome 19p13 showed evidence for linkage and association particularly with dermatitis herpetiformis, the skin manifestation of celiac disease. This implies a potential difference in the genetic background of the intestinal and skin forms of the disease, although studies on larger samplesets are required. The IL18RAP locus on chromosome 2q12, shown to be associated with celiac disease in a previous genome-wide association study and a subsequent follow-up, showed association in the Hungarian population in this study. The expression of IL18RAP was further investigated in small intestinal tissue and in peripheral blood mononuclear cells. The results showed that IL18RAP is expressed in the relevant tissues. Two putative isoforms of IL18RAP were detected by Western blot analysis, and the results suggested that the ratios and total levels of these isoforms may contribute to the aetiology of celiac disease. A novel genotyping method for celiac disease-associated HLA haplotypes was also validated in this thesis. The method utilises single-nucleotide polymorphisms tagging these HLA haplotypes with high sensitivity and specificity. Our results suggest that this method is transferable between populations, and it is suitable for large-scale analysis. In conclusion, this doctorate study provides an insight into the roles of the 5q31-q33, MYO9B, IL18RAP and HLA loci in the susceptibility to celiac disease in the Finnish, Hungarian and Italian populations, highlighting the need for further studies at these genetic loci and examination of the function of the candidate genes.

Rudolfine Menzel with brothers ? Portraits Family

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