Name: ______Date: ______Period: ______# ______

Genetic Disorder Research Project

Directions: Access the following websites http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd and http://www.genome.gov/10001204 . Click on and read the “Introduction to Genes and Disease” found on this website. Then, click the back button to return to the initial home page so that you can choose a specific category of the human body to further research a genetic disorder. Choose a genetic disorder that interests you, and answer the following questions in complete sentences. Every person will have a different genetic disorder, and the genetic disorders will be assigned to the first person that asks Mrs. Mohan for it. This assignment is due on January 17, 2014.

1. What is the name of the genetic disorder?

2. What system/part of the body does the disorder affect?

3. What gene and/or chromosome is mutated in this disorder?

4. What is the type of mutation that causes this disorder?

5. Is this mutation dominant or recessive?

6. What are the symptoms of this disorder?

7. What are the possible treatments for this disorder?

8. Does this disorder affect specific populations of people more so than other populations? Explain.

9. What is the percentage or ratio of the population suffering from this disorder?

10. Search www.google.com or www.yahoo.com to find two reputable websites containing information about this disorder. Reputable websites end in .edu, .gov, or .org. For each website, write the website address, the name of the website, and two facts about this disorder that are different from those above.

Website 1

Address:

Name:

Fact 1:

Fact 2:

Website 2

Address:

Name:

Fact 1:

Fact 2:

Achondroplasia
Alpha-1 Antitrypsin Deficiency
Antiphospholipid Syndrome
Autism
Autosomal Dominant Polycystic Kidney Disease
Breast cancer /
Charcot-Marie-Tooth /
Colon cancer /
Cri du chat
Crohn's Disease
Cystic fibrosis /
Dercum Disease
Down Syndrome /
Duane Syndrome
Duchenne Muscular Dystrophy
Factor V Leiden Thrombophilia
Familial Hypercholesterolemia
Familial Mediterranean Fever /
Fragile X Syndrome
Gaucher Disease / /
Hemochromatosis
Hemophilia
Holoprosencephaly /
Huntington's disease
Klinefelter syndrome
Marfan syndrome
Myotonic Dystrophy
Neurofibromatosis /
Noonan Syndrome
Osteogenesis imperfecta
Parkinson's disease / /
Phenylketonuria
Poland Anomaly
Porphyria
Progeria /
Prostate Cancer /
Retinitis Pigmentosa /
Severe Combined Immunodeficiency (SCID) / /
Sickle cell disease
Skin Cancer /
Spinal Muscular Atrophy /
Tay-Sachs
Thalassemia
Trimethylaminuria
Turner Syndrome
Velocardiofacial Syndrome
WAGR Syndrome
Wilson Disease

Blood & Lymph

Anemia, sickle cell

·  Burkitt lymphoma

·  Gaucher disease

·  Hemophilia A

·  Leukemia, chronic myeloid

·  Niemann-Pick disease

·  Paroxysmal nocturnal hemoglobinuria

·  Porphyria

·  Thalassemia

Cancers

·  Breast and ovarian cancer

·  Burkitt lymphoma

·  Colon cancer

·  Leukemia, chronic myeloid

·  Lung carcinoma, small cell

·  Malignant melanoma

·  Multiple endocrine neoplasia

·  Neurofibromatosis

·  The p53 tumor suppressor protein

·  Pancreatic cancer

·  Polycystic kidney disease

·  Prostate cancer

·  Harvey Ras oncogene

·  Retinoblastoma

·  Tuberous sclerosis

·  Von Hippel-Lindau syndrome

Digestive System

·  Colon cancer

·  Crohn's disease

·  Cystic fibrosis

·  Diabetes, type 1

·  Glucose galactose malabsorption

·  Pancreatic cancer

·  Wilson's disease

·  Zellweger syndrome

Ear, Nose & Throat

·  Deafness

·  Neurofibromatosis

·  Pendred syndrome

Diseases of the Eye

·  Best disease

·  Glaucoma

·  Gyrate atrophy of the choroid and retina

·  Retinoblastoma

Female Specific Disorders

·  Breast and ovarian cancer

·  Rett syndrome

Glands & Hormones

·  Adrenal hyperplasia, congenital

·  Adrenoleukodystrophy

·  Autoimmune polyglandular syndrome

·  Breast and ovarian cancer

·  Cockayne syndrome

·  Diabetes, type 1

·  Diastrophic dysplasia

·  Multiple endocrine neoplasia

·  Pendred syndrome

Heart & Blood Vessels

·  Ataxia telangiectasia

·  Atherosclerosis

·  Long QT syndrome

·  Von Hippel-Lindau syndrome

·  Williams syndrome

Immune System Disorders

·  Asthma

·  Ataxia telangiectasia

·  Autoimmune polyglandular syndrome

·  Burkitt lymphoma

·  Diabetes, type 1

·  DiGeorge syndrome

·  Familial Mediterranean fever

·  Immunodeficiency with hyper-IgM

·  Leukemia, chronic myeloid

·  Severe combined immunodeficiency

Male Specific Diseases

·  Alport syndrome

·  Male pattern baldness

·  Prostate cancer

·  SRY: Sex determination

Muscle & Bone Disorders

·  Achondroplasia

·  Amyotrophic lateral sclerosis

·  Charcot-Marie-Tooth syndrome

·  Cockayne syndrome

·  Diastrophic dysplasia

·  Duchenne muscular dystrophy

·  Ellis-van Creveld syndrome

·  Fibrodysplasia ossificans progressiva

·  Marfan syndrome

·  Myotonic dystrophy

Neonatal diseases

·  Achondroplasia

·  Angelman syndrome

·  Cockayne syndrome

·  Cystic fibrosis

·  DiGeorge syndrome

·  Fragile X syndrome

·  Marfan syndrome

·  Prader-Willi syndrome

·  Severe combined immunodeficiency

·  Waardenburg syndrome

·  Werner syndrome

·  Williams syndrome

·  Zellweger syndrome

Nervous System

·  Adrenoleukodystrophy

·  Alzheimer disease

·  Amyotrophic lateral sclerosis

·  Angelman syndrome

·  Ataxia telangiectasia

·  Charcot-Marie-Tooth syndrome

·  Cockayne syndrome

·  Deafness

·  Duchenne muscular dystrophy

·  Epilepsy

·  Essential tremor

·  Fragile X syndrome

·  Friedreich's ataxia

·  Gaucher disease

·  Huntington disease

·  Lesch-Nyhan syndrome

·  Maple syrup urine disease

·  Menkes syndrome

·  Myotonic dystrophy

·  Narcolepsy

·  Neurofibromatosis

·  Niemann-Pick disease

·  Parkinson disease

·  Phenylketonuria

·  Prader-Willi syndrome

·  Refsum disease

·  Rett syndrome

·  Spinal muscular atrophy

·  Spinocerebellar ataxia

·  Tangier disease

·  Tay-Sachs disease

·  Tuberous sclerosis

·  Von Hippel-Lindau syndrome

·  Williams syndrome

·  Wilson's disease

·  Zellweger syndrome

Nutritional & Metabolic Disorders

·  Adrenoleukodystrophy

·  Diabetes, type 1

·  Gaucher disease

·  Glucose galactose malabsorption

·  Hereditary hemochromatosis

·  Lesch-Nyhan syndrome

·  Maple syrup urine disease

·  Menkes syndrome

·  Niemann-Pick disease

·  Obesity

·  Pancreatic cancer

·  Phenylketonuria

·  Prader-Willi syndrome

·  Porphyria

·  Refsum disease

·  Tangier disease

·  Tay-Sachs disease

·  Wilson's disease

·  Zellweger syndrome

Respiratory Diseases

·  Alpha-1-antitrypsin deficiency

·  Asthma

·  Cystic fibrosis

·  Lung carcinoma, small cell

Skin & Connective Tissue

·  Male pattern baldness

·  Diastrophic dysplasia

·  Ellis-van Creveld syndrome

·  Marfan syndrome

·  Malignant melanoma

·  Menkes syndrome

·  Porphyria


Name: ______Date: ______Period: ______# ______

Genetic Disorder Research Project

Directions: Access the following website http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd and http://www.genome.gov/10001204 . Click on and read the “Introduction to Genes and Disease” found on this website. Then, click the back button to return to the initial home page so that you can choose a specific category of the human body to further research a genetic disorder. Choose a genetic disorder that interests you, and answer the following questions in complete sentences. Every person will have a different genetic disorder, and the genetic disorders will be assigned to the first person that asks Mrs. Mohan for it.

1. What is the name of the genetic disorder?

The name of my genetic disorder is Hereditary Prostate Cancer (HPC).

2. What system/part of the body does the disorder affect?

The system that is affected by this disorder is the male reproductive system, specifically the prostate gland.

3. What gene and/or chromosome is mutated in this disorder?

The gene loci that makes men more susceptible (likely to have prostate cancer) to this disease is HPC1 which is located on chromosome 1.

4. What is the type of mutation that causes this disorder?

This disease is inherited but causes mutations in somatic cells of the prostate.

5. Is this mutation dominant or recessive?

6. What are the symptoms of this disorder?

7. What are the possible treatments for this disorder?

8. Does this disorder affect specific populations of people more so than other populations? Explain.

9. What is the percentage or ratio of the population suffering from this disorder?

10. Search www.google.com or www.yahoo.com to find two reputable websites containing information about this disorder. Reputable websites end in .edu, .gov, or .org. For each website, write the website address, the name of the website, and two facts about this disorder that are different from those above.

Website 1

Address:

Name:

Fact 1:

Fact 2:

Website 2

Address:

Name:

Fact 1:

Fact 2: