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Table of Contents
pt. I. Introduction to genetics
1. Cells and DNA : the basics
2. How genes work
3. Genetic mutations and health
4. Genetic inheritance
5. Genetic counseling
6. Testing for genetic disorders
6.1. What you need to know about genetic testing
6.2. Prenatal genetic testing
6.3. Newborn screening
6.4. Screening for critical congenital heart defects
7. Preventing genetic discrimination
pt. II. Disorders resulting from abnormalities in specific genes
8. Albinism
9. Alpha-1 antitrypsin deficiency
10. Blood clotting deficiency disorders
10.1. Factor V Leiden thrombophilia
10.2. Hemophilia
10.3. Von Willebrand disease
11. Blood disorders (hemoglobinopathies
11.1. Fanconi anemia
11.2. Hemochromatosis
11.3. Sickle cell disease
11.4. Thalassemia
12. CHARGE syndrome
13. Connective tissue disorders
13.1. what are heritable disorders of connective tissue?
13.2. Beals syndrome (congenital contractural arachnodactyly)
13.3. Ehlers-Danlos syndrome
13.4. Marfan syndrome
13.5. Osteogenesis imperfecta
13.6. Stickler syndrome
14. Cornelia de Lange syndrome
15. Cystic fibrosis
16. Endocrine disorders
16.1. Congenital adrenal hyperplasia (21-hydroxylase deficiency)
16.2. Congenital hypothyroidism
16.3. Kallmann syndrome
17. Familial hypercholesterolemia
18. Growth disorders
18.1. Achondroplasia
18.2. Dwarfism
18.3. Multiple epiphyseal dysplasia
18.4. Russell-Silver syndrome
18.5. Thanatophoric dysplasia
19. Heart rhythm disorders
19.1. Brugada syndrome
19.2. Familial atrial fibrillation
19.3. Long QT syndrome
20; Hereditary deafness
20.1. Usher syndrome
20.2. Waardenburg syndrome
21. Huntington disease
22. Hypohidrotic ectodermal dysplasia
23. Inborn errors of metabolism
23.1. Biotinidase deficiency
23.2. Fructose intolerance
23.3. Galactosemia
23.4. Homocystinuria
23.5. Maple syrup urine disease
23.6. Medium chain, acyl-coenzyme A, dehydrogenase deficiency
23.7. Methylmalonic acidemia
23.8. Phenylketonuria (PKU)
23.9. Tyrosinemia
23.10. Urea cycle defects
24. Kidney and urinary system disorders
24.1. Cystinuria
24.2. Polycystic kidney disease
25. Leukodystrophies
26. Lipid storage diseases
26.1. Batten disease
26.2. Fabry disease
26.3. Gaucher disease
26.4. Niemann-Pick disease
26.5. Sandhoff disease
26.6. Tay-Sachs disease
27. Mitochondrial diseases
27.1. Basic facts about mitochondrial diseases
27.2. Treatments and therapies for mitochondrial diseases
28. Neurofibromatosis
29. Neuromuscular disorders
29.1. Charcot-Marie-Tooth disease
29.2. Early-onset primary dystonia
29.3. Friedreich ataxia
29.4. Hereditary spastic paraplegia
29.5. Muscular dystrophy
29.6. Spinal muscular atrophy
30. Noonan syndrome
31. Porphyria
32. Retinoblastoma
33. Rett syndrome
34. Tuberous sclerosis
35. Vision disorders
35.1. Color vision deficiency
35.2. Early-onset glaucoma
35.3. X-linked juvenile retinoschisis
36. Wilson disease
pt. III. Chromosome abnormalities
37. Angelman syndrome
38. Cri du Chat syndrome
39. Down syndrome and other trisomy disorders
39.1. Down syndrome
39.2. Edwards syndrome (trisomy 18)
39.3. Patau syndrome (trisomy 13)
39.4. Triple X syndrome
40. Fragile X syndrome
41. Klinefelter syndrome
42. Prader-Willi syndrome
43. Smith-Magenis syndrome
44. Turner syndrome
45. Velocardiofacial syndrome
46. Williams syndrome
pt. IV. Complex disorders with genetic and environmental components
47. Genes, behavior, the environment, and health
48. Addiction and genetics
48.1. Genetics of alcohol use
48.2. Genetic variation may contribute to risk of alcoholism
48.3. Genes influence amount of alcohol consumption
48.4. Genetic research leads to advance in treatment of alcoholism
48.5. Genes influence how much people smoke and risk of lung cancer
48.6. Odds of quitting smoking are affected by genetics
49. Alzheimer disease and genetics
49.1. Genes related to Alzheimer disease
49.2. Gene mutation may triple alzheimer risk
49.3. Additional genes linked to alzheimer risk
50. Asthma and genetics
50.1. Basic facts about genes and asthma
50.2. New research on the genetics of asthma
51. Cancer and genetics
51.1. Breast cancer and heredity
51.2. Colon cancer and heredity
51.3. New lung cancer gene found
51.4. Lung cancer and other implicated genes
51.5. Skin cancer and heredity
51.6. Genetic risks for prostate, breast, and ovarian cancers
51.7. Genetic link to prostate cancer risk in African Americans
52. Crohn disease and genetics
53. Mental illness and genetics
53.1. Familial recurrence of mental illness
53.2. Family history as predictor of severity of mental illness
53.3. Genetic links in obsessive-compulsive disorder
53.4. Genetic links in schizophrenia and bipolar disorder
54. Diabetes and genetics
55. Heart disease and genetics
55.1. How genetics impact heart disease risk
55.2. Genetic link to aortic valve disease discovered
55.3. New research on genetic ties to heart attack, arrhythmia, and coronary artery disease
56. Hypertension : research reveals genetic links
56.1. Research uncovers genetic clues to blood pressure
56.2. Study identifies new gene targets for hypertension treatment
56.3. Study identifies key genetic mechanisms that help control high blood pressure
57. Heredity and movement disorders
57.1. Genetics of essential tremor
57.2. Parkinson disease : genetic links
58. Genetic factors in obesity
58.1. Genes and obesity : basic facts
58.2. Obesity and genetics ; what we know
58.3. "Obesity genes" may influence food choices and eating habits
58.4. Genes identified for common childhood obesity
59. Stroke : genetic links
60. Genetics and Tourette syndrome
pt. V. Genetic research
61. The Human Genome Project
61.1. Basic facts about the Human Genome Project
61.2. Insights learned from the human DNA sequence
61.3. The Human Genome Project : current knowledge and future research directions
62. Behavioral genetics
63. Nutrigenomics : developing personalized diets for disease prevention
64. Pharmacogenomics
65. Gene therapy
65.1. What is gene therapy?
65.2. Gene therapy and children
65.3. Gene therapy for advanced Parkinson shows promise
65.4. Gene therapy for cancer : questions and answers
pt. VI. Information for parents of children with genetic disorders
66. When you baby has a birth defect
67. Tips for parenting a child with a disability
68. Early intervention : an overview
69. Assistive technology for young children
70. Education of children with special needs
70.1. Individualized education programs
70.2. Three ways parents can help their disabled child stay in school
70.3. Preparing for college : what students with disabilities need to know
71. Transition planning for children with special needs
71.1 Parent tips for transition planning
71.2. Assisting disabled youth with job search and retention
72. Government benefits for children and adults with disabilities
73. Estate planning for families of children with special needs
73.1. Estate planning : the first five things to do
73.2. Supplemental needs trusts
pt. VII : Additional help and information
74. Glossary of terms related to human genetics
75. Sources of further help and information related to genetic disorders.
1. Cells and DNA : the basics
2. How genes work
3. Genetic mutations and health
4. Genetic inheritance
5. Genetic counseling
6. Testing for genetic disorders
6.1. What you need to know about genetic testing
6.2. Prenatal genetic testing
6.3. Newborn screening
6.4. Screening for critical congenital heart defects
7. Preventing genetic discrimination
pt. II. Disorders resulting from abnormalities in specific genes
8. Albinism
9. Alpha-1 antitrypsin deficiency
10. Blood clotting deficiency disorders
10.1. Factor V Leiden thrombophilia
10.2. Hemophilia
10.3. Von Willebrand disease
11. Blood disorders (hemoglobinopathies
11.1. Fanconi anemia
11.2. Hemochromatosis
11.3. Sickle cell disease
11.4. Thalassemia
12. CHARGE syndrome
13. Connective tissue disorders
13.1. what are heritable disorders of connective tissue?
13.2. Beals syndrome (congenital contractural arachnodactyly)
13.3. Ehlers-Danlos syndrome
13.4. Marfan syndrome
13.5. Osteogenesis imperfecta
13.6. Stickler syndrome
14. Cornelia de Lange syndrome
15. Cystic fibrosis
16. Endocrine disorders
16.1. Congenital adrenal hyperplasia (21-hydroxylase deficiency)
16.2. Congenital hypothyroidism
16.3. Kallmann syndrome
17. Familial hypercholesterolemia
18. Growth disorders
18.1. Achondroplasia
18.2. Dwarfism
18.3. Multiple epiphyseal dysplasia
18.4. Russell-Silver syndrome
18.5. Thanatophoric dysplasia
19. Heart rhythm disorders
19.1. Brugada syndrome
19.2. Familial atrial fibrillation
19.3. Long QT syndrome
20; Hereditary deafness
20.1. Usher syndrome
20.2. Waardenburg syndrome
21. Huntington disease
22. Hypohidrotic ectodermal dysplasia
23. Inborn errors of metabolism
23.1. Biotinidase deficiency
23.2. Fructose intolerance
23.3. Galactosemia
23.4. Homocystinuria
23.5. Maple syrup urine disease
23.6. Medium chain, acyl-coenzyme A, dehydrogenase deficiency
23.7. Methylmalonic acidemia
23.8. Phenylketonuria (PKU)
23.9. Tyrosinemia
23.10. Urea cycle defects
24. Kidney and urinary system disorders
24.1. Cystinuria
24.2. Polycystic kidney disease
25. Leukodystrophies
26. Lipid storage diseases
26.1. Batten disease
26.2. Fabry disease
26.3. Gaucher disease
26.4. Niemann-Pick disease
26.5. Sandhoff disease
26.6. Tay-Sachs disease
27. Mitochondrial diseases
27.1. Basic facts about mitochondrial diseases
27.2. Treatments and therapies for mitochondrial diseases
28. Neurofibromatosis
29. Neuromuscular disorders
29.1. Charcot-Marie-Tooth disease
29.2. Early-onset primary dystonia
29.3. Friedreich ataxia
29.4. Hereditary spastic paraplegia
29.5. Muscular dystrophy
29.6. Spinal muscular atrophy
30. Noonan syndrome
31. Porphyria
32. Retinoblastoma
33. Rett syndrome
34. Tuberous sclerosis
35. Vision disorders
35.1. Color vision deficiency
35.2. Early-onset glaucoma
35.3. X-linked juvenile retinoschisis
36. Wilson disease
pt. III. Chromosome abnormalities
37. Angelman syndrome
38. Cri du Chat syndrome
39. Down syndrome and other trisomy disorders
39.1. Down syndrome
39.2. Edwards syndrome (trisomy 18)
39.3. Patau syndrome (trisomy 13)
39.4. Triple X syndrome
40. Fragile X syndrome
41. Klinefelter syndrome
42. Prader-Willi syndrome
43. Smith-Magenis syndrome
44. Turner syndrome
45. Velocardiofacial syndrome
46. Williams syndrome
pt. IV. Complex disorders with genetic and environmental components
47. Genes, behavior, the environment, and health
48. Addiction and genetics
48.1. Genetics of alcohol use
48.2. Genetic variation may contribute to risk of alcoholism
48.3. Genes influence amount of alcohol consumption
48.4. Genetic research leads to advance in treatment of alcoholism
48.5. Genes influence how much people smoke and risk of lung cancer
48.6. Odds of quitting smoking are affected by genetics
49. Alzheimer disease and genetics
49.1. Genes related to Alzheimer disease
49.2. Gene mutation may triple alzheimer risk
49.3. Additional genes linked to alzheimer risk
50. Asthma and genetics
50.1. Basic facts about genes and asthma
50.2. New research on the genetics of asthma
51. Cancer and genetics
51.1. Breast cancer and heredity
51.2. Colon cancer and heredity
51.3. New lung cancer gene found
51.4. Lung cancer and other implicated genes
51.5. Skin cancer and heredity
51.6. Genetic risks for prostate, breast, and ovarian cancers
51.7. Genetic link to prostate cancer risk in African Americans
52. Crohn disease and genetics
53. Mental illness and genetics
53.1. Familial recurrence of mental illness
53.2. Family history as predictor of severity of mental illness
53.3. Genetic links in obsessive-compulsive disorder
53.4. Genetic links in schizophrenia and bipolar disorder
54. Diabetes and genetics
55. Heart disease and genetics
55.1. How genetics impact heart disease risk
55.2. Genetic link to aortic valve disease discovered
55.3. New research on genetic ties to heart attack, arrhythmia, and coronary artery disease
56. Hypertension : research reveals genetic links
56.1. Research uncovers genetic clues to blood pressure
56.2. Study identifies new gene targets for hypertension treatment
56.3. Study identifies key genetic mechanisms that help control high blood pressure
57. Heredity and movement disorders
57.1. Genetics of essential tremor
57.2. Parkinson disease : genetic links
58. Genetic factors in obesity
58.1. Genes and obesity : basic facts
58.2. Obesity and genetics ; what we know
58.3. "Obesity genes" may influence food choices and eating habits
58.4. Genes identified for common childhood obesity
59. Stroke : genetic links
60. Genetics and Tourette syndrome
pt. V. Genetic research
61. The Human Genome Project
61.1. Basic facts about the Human Genome Project
61.2. Insights learned from the human DNA sequence
61.3. The Human Genome Project : current knowledge and future research directions
62. Behavioral genetics
63. Nutrigenomics : developing personalized diets for disease prevention
64. Pharmacogenomics
65. Gene therapy
65.1. What is gene therapy?
65.2. Gene therapy and children
65.3. Gene therapy for advanced Parkinson shows promise
65.4. Gene therapy for cancer : questions and answers
pt. VI. Information for parents of children with genetic disorders
66. When you baby has a birth defect
67. Tips for parenting a child with a disability
68. Early intervention : an overview
69. Assistive technology for young children
70. Education of children with special needs
70.1. Individualized education programs
70.2. Three ways parents can help their disabled child stay in school
70.3. Preparing for college : what students with disabilities need to know
71. Transition planning for children with special needs
71.1 Parent tips for transition planning
71.2. Assisting disabled youth with job search and retention
72. Government benefits for children and adults with disabilities
73. Estate planning for families of children with special needs
73.1. Estate planning : the first five things to do
73.2. Supplemental needs trusts
pt. VII : Additional help and information
74. Glossary of terms related to human genetics
75. Sources of further help and information related to genetic disorders.