2008 Abstract Topics & Keywords

• Topics

   

• Keywords

Topics

1. CANCER CYTOGENETICS

   1. Chromosomal and genomic changes in cancer

   2. Chromosomal instability

   3. Epidemiology

   4. Imprinting

   5. Mechanisms of rearrangements or disease progression

   6. Molecular basis

   7. Molecular cytogenetic characterization (including FISH and microarray)

   8. Risk assessment, prognosis, and treatment

   9. Other

    

2. CANCER GENETICS

   1. Animal models of inherited cancer and predisposition

   2. Candidate genes/regions

   3. Clinical assessment, prognosis, and treatment of inherited cancer syndromes

   4. Epidemiology

   5. Genetic markers of diagnosis, prognosis and/or response to therapy

   6. Molecular understanding of cancer genesis, progression and treatment

   7. New components of an existing syndrome (clinical)

   8. New syndromes, associations (clinical)

   9. Whole genome association studies

   10. Other

    

3. CARDIOVASCULAR GENETICS

   1. Candidate genes/regions

   2. Description of new syndromes

   3. Development

   4. Diagnostics

   5. Whole genome association studies

   6. Gene-environment interactions

   7. Other

    

4. CLINICAL GENETICS AND DYSMORPHOLOGY

   1. Characterization of known chromosomal disorders (incl diagnostic process)

   2. Characterization of known complex disorders (incl diagnostic process)

   3. Characterization of known single gene disorders (incl diagnostic process)

   4. Characterization of known Syndromes/Disorders and idiopathic MCA (incl diagnostic process)

   5. Characterization of new chromosomal disorders (incl diagnostic process)

   6. Characterization of new complex disorders (incl diagnostic process)

   7. Characterization of new single gene disorders (incl diagnostic process)

   8. Characterization of new Syndromes/Disorders idiopathic MCA (incl diagnostic process)

   9. Genotype-Phenotype correlations for chromosomal disorders

   10. Genotype-Phenotype correlations for single gene disorders

   11. Geno-Pheno correlations for Syndromes/Disorders and idiopathic MCA

   12. Natural History (including complications) of chromosomal disorders

   13. Natural History (including complications) of complex disorders

   14. Natural History (including complications) of single gene disorders

   15. Natural History (including complications) of Syndromes/Disorders and idiopathic MCA

   16. Other

    

5. COMPLEX TRAITS AND POLYGENIC DISORDERS

   1. Animal models of complex disease or gene interactions

   2. Candidate genes/regions

   3. Complex diseases

   4. Hypothesis testing in candidate genes/regions

   5. Integration of genetics and genomics

   6. Joint application of statistical and molecular methods

   7. Replication of susceptibility genes/allele

   8. Whole genome association studies

   9. Other

    

6. CYTOGENETICS

   1. Aneuploidy

   2. Chromosome rearrangements

   3. Chromosome stability and maintenance

   4. Chromosome structure

   5. Chromosomes and disease

   6. Copy number/ structural variation

   7. Cytogenetics

   8. Imprinting

   9. Mechanisms of chromosome rearrangements

   10. Meiosis, normal or anormal

   11. Molecular cytogenetic technologies (includes FISH, microarrays, etc.)

   12. X inactivation

   13. Other

    

7. DEVELOPMENT

   1. Cardiovascular development

   2. Model organism

   3. Neural crest migration

   4. Neurodevelopment

   5. Organogenesis

   6. Other

    

8. EPIGENETICS

   1. Histone modification

   2. Methylation

   3. Short RNAs

   4. Other

    

9. ETHICAL, LEGAL, SOCIAL AND POLICY ISSUES IN GENETICS

   1. Ethical dilemmas

   2. Legal and social implications of genetics/genomics

   3. Policy issues

   4. Public consultation

   5. Public health initiatives

   6. Other

    

10. EVOLUTIONARY AND POPULATION GENETICS

    1. Mutation and polymorphism

    2. Population history and relationships

    3. Population isolates and founder mutations

    4. Natural selection and adaptation

    5. Molecular evolution

    6. Other

     

11. GENE STRUCTURE AND GENE PRODUCT FUNCTION

    1. Functional motifs

    2. Gene families

    3. Gene sequence

    4. Model organism modeling

    5. Post-translational modifications / proteomics

    6. Splicing regulation

    7. Tandem repeats, triplets, and repeat disease

    8. Transcription regulation

    9. Other

     

12. GENETIC COUNSELING AND CLINICAL TESTING

    1. Carrier testing

    2. Clinical care delivery models

    3. Family issues

    4. Genetic Counseling

    5. Genetic screening

    6. Genetic testing

    7. Predisposition testing

    8. Psychological assessment

    9. Risk Assessment

    10. Other

     

13. GENETICS EDUCATION

    1. Continuing/professional

    2. Graduate and medical

    3. K-16

    4. Public

    5. Other

     

14. GENOMICS

    1. Bioinformatics

    2. Comparative sequence analysis

    3. Copy number/ structural variation

    4. Gene expression analysis

    5. Genome mapping and sequencing

    6. Genome variation

    7. Model organism genomics

    8. Resequencing

    9. Technology development

    10. Other

     

15. METABOLIC DISORDERS

    1. Biochemical basis of a disease

    2. Description of new disorders

    3. Diagnostic studies

    4. Molecular basis of an inborn error

    5. Natural history of known disorders

    6. Newborn screening

    7. Other

     

16. MAPPING, LINKAGE AND LINKAGE DISEQUILIBRIUM

    1. Applications and results of analyses

    2. Other

     

17. MOLECULAR BASIS OF MENDELIAN DISORDERS

    1. Animal Models

    2. Biochemical characterization

    3. Candidate genes/regions

    4. Cardiovascular disorders

    5. Endocrinological defects

    6. Functional characterization

    7. Gastrointestinal disorders

    8. Genotype-phenotype correlations

    9. Hematopoietic/immunologic defects

    10. Multiple congenital anomaly syndromes

    11. Neurogenetic disorders

    12. Renal/genitourinary defects

    13. Respiratory defects

    14. Skeletal disorders

    15. Other

     

18. PHARMACOGENETICS

    1. Pharmacodynamics

    2. Pharmacogenomics in model organisms

    3. Pharmacokinetics

    4. Small molecule screening and in vitro

    5. Social, policy, regulatory, and economic implications of pharmacogenetics.

    6. Somatic pharmacogenetics

    7. Other

     

19. PRENATAL AND PERINATAL GENETICS

    1. Fetal imaging

    2. Fetal therapy

    3. Genetic screening

    4. Maternal serum screening

    5. Prenatal diagnosis

    6. Other

     

20. PSYCHIATRIC GENETICS, NEUROGENETICS AND NEURODEGENERATION

    1. Candidate genes/regions

    2. Description of disorders

    3. Development

    4. Diagnostic

    5. Gene-environment interactions

    6. Tandem repeats, triplet expansions and disease

    7. Whole genome association studies

    8. Other

     

21. REPRODUCTIVE GENETICS

    1. Assisted reproductive technologies

    2. Ethical, legal, social issues

    3. Infertility

    4. Preimplantation diagnosis

    5. Other

     

22. STATISTICAL GENETICS AND GENETIC EPIDEMIOLOGY

    1. Association analysis methods

    2. Data integration methods

    3. Data quality control and pre-processing in genetic analysis

    4. Design of genetic studies

    5. Distribution and predictors of genetic and complex diseases in families and populations

    6. Functional genomics and proteomics in genetic studies

    7. Gene-gene and gene-environment interaction modeling

    8. Genetic risk analysis, genotype/phenotype relationships, penetrance estimation

    9. Linkage analysis methods

    10. Mode of inheritance inference and segregation analysis

    11. Sequence-based genetic analysis

    12. Statistical analysis programs/software

    13. Other

     

23. THERAPY FOR GENETIC DISORDERS

    1. Bone marrow or whole organ transplantation

    2. Dietary therapy

    3. Drug treatments

    4. Gene therapy

    5. Symptomatic therapy

    6. Other

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Keywords

1. amino acidemias

2. assisted reproduction

3. ataxia

4. alternative splicing

5. auditory system

6. biochemical pathology

7. biogenesis

8. bioinformatics

9. bone marrow transplantation

10. bone/joint abnormalities

11. brain/nervous system

12. cancer

13. cancer cytogenetics

14. cancer syndromes

15. candidate gene

16. cardiovascular system

17. cellular metabolism

18. centromere structure/function

19. channelopathies

20. characterization of disorders

21. characterization of syndromes

22. chromatin immunoprecipitation

23. chromosomal abnormalities

24. chromosomal deletions

25. chromosomal structure/function

26. ciliopathies

27. clinical applications of molecular cytogenetics

28. clinical cytogenetics

29. clinical history

30. comparative mapping

31. computational tools

32. congenital anomaly

33. contigs

34. copy number/structural variation

35. counseling

36. CVD

37. databases

38. deformation

39. delineation of diseases

40. development

41. diabetes

42. diagnostics

43. differentiation

44. digital gene expression

45. disruption

46. dysmorphology

47. education

48. embryonic stem cells

49. epidemiology

50. endocrine system

51. enzyme replacement therapy

52. epilepsy

53. expressed sequence tags

54. ethical, legal and social issues

55. etiology

56. evolution

57. evolutionary genetics

58. expansion

59. family linkage analysis

60. fetal pathology

61. fetal therapy

62. FISH

63. fragile X syndrome and FXTAS

64. functional motifs

65. gastrointestinal system

66. gene environment interaction

67. gene families

68. gene localization

69. gene therapy

70. gene transfer methodologies

71. genes in development

72. genetic diversity

73. genetic epidemiology

74. genetic instability

75. genetic mapping

76. genetic testing

77. genitourinary system

78. genome scan

79. genome sequencing

80. genome-wide association

81. genomic methodologies

82. genomic structure

83. genotype-phenotype correlations

84. haplotype

85. hematopoietic system

86. identification of disease genes

87. immune system

88. imprinting

89. infectious disease

90. infertility

91. inheritance modeling

92. inheritance patterns

93. limb

94. linkage disequilibrium

95. linkage mapping

96. linkage methodology

97. lymphatic system

98. lysosomal diseases

99. malformation

100. mapping complex traits

101. maps

102. massively parallel sequencing

103. maternal genetic disease

104. maternal serum screening

105. mathematical modeling

106. mental retardation

107. metabolic disorder

108. methodology

109. methylation

110. microarrays

111. micro RNA

112. mitochondria

113. model organisms

114. molecular pathophysiology

115. morphogenesis

116. muscular abnormalities

117. mutation detection

118. myotonic dystrophies

119. natural history

120. natural selection

121. newborn screening

122. neurodegeneration

123. neurogenetics

124. nervous system

125. noncoding RNA

126. oncogenesis

127. organic acidurias

128. pathogenesis

129. peroxisomal diseases

130. pharmacodynamics

131. pharmacogenetics

132. pharmacokinetics

133. pharmacologic therapy

134. phenotype

135. physical mapping

136. policy issues

137. polyalanine disorders

138. polyglutamine diseases

139. polymorphism

140. population genetics

141. population structure

142. preclinical trial

143. predictive testing

144. preimplantation diagnosis

145. prenatal diagnosis

146. proteomics

147. psychosocial counseling issues

148. psychosocial issues

149. public health

150. public, patient and professional education

151. regulation of transcription

152. reproductive genetics

153. respiratory system

154. risk assessment

155. RNA

156. RNAi

157. RNA pathology

158. skeletal system

159. SNP analysis/discovery

160. splicing mechanisms

161. stem cell(s)

162. structure/function

163. susceptibility locus

164. systems biology

165. tandem mass spectroscopy

166. telomere structure/function

167. teratogens

168. therapy

169. transcription

170. transcription factor

171. transgenic model

172. translational studies and preclinical trials

173. transplantation

174. transposable elements

175. triplet and other repeats

176. ultrasound diagnosis

177. uniparental disomy

178. visual systems

179. viral vectors

180. X-inactivation

181. X-linked disease

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