You will be researching a genetic disorder for SLIDE 7 of your HBC presentation. Listed below are some links to assist you.   REMEMBER: YOU MAY CHOOSE A DISORDER THAT PERTAINS TO Y0UR SYSTEM!!

  Let’s Practice!

  Name of Disorder:  Huntingdon’s Disease

  Genotype/Chromosome #/Gene name (if listed):

  Phenotype:  

  Cause/cellular level:  CAG repeats at least 40 times.

  Testing; 

  Foundations/Research Organizations:  Huntingdon’s Disease Society of America

  Cure/Treatment:

LINKS

  http://www.ygyh.org    Your Genes Your Health-

  Neurofibromatosis-  Ear, Nervous system

 http://www.ygyh.org/nf/whatisit.htm

  Alzheimers- Nervous system

 http://www.ygyh.org/alz/whatisit.htm

William’s Syndrome- vascular

http://learn.genetics.utah.edu/units/disorders/karyotype/williams.cfm

Leukemia

http://learn.genetics.utah.edu/units/disorders/karyotype/reciprocal.cfm

Hypothyroidism- Endocrine/Digestive

http://learn.genetics.utah.edu/units/disorders/whataregd/hypothyroidism/index.cfm

Colon Cancer

http://learn.genetics.utah.edu/units/disorders/whataregd/colon/index.cfm

Galactosemia- Digestive

http://learn.genetics.utah.edu/units/disorders/whataregd/galactosemia/index.cfm

Adenosine Deaminase- Immune

http://learn.genetics.utah.edu/units/disorders/whataregd/ada/index.cfm

Alpha 1- Liver

http://learn.genetics.utah.edu/units/disorders/whataregd/a1ad/index.cfm

Maple Syrup Urinary- Excretory

http://learn.genetics.utah.edu/units/disorders/whataregd/msud/index.cfm

Smith-Lemli Opitz Syndrome- Digestive/Metabolic

http://learn.genetics.utah.edu/units/disorders/whataregd/slos/index.cfm

SCID- Immune

http://learn.genetics.utah.edu/units/disorders/whataregd/scid/index.cfm

Achondroplasia-- a growth defect causing short stature. Affected persons have short limbs but a relatively normal size torso.

Albinism-- individuals lack the pigment melanin in hair, skin, and eyes.

Diabetes Mellitus-- there are two forms of this disease. This activity describes both types and then introduces students to insulin and recombinant DNA technology.

Cystic Fibrosis-- a disorder in chloride ion transport causing many digestive and respiratory problems. This is one of the first genetic diseases to have human clinical trials in gene therapy. This activity introduces students to gene therapy and helps them understand how this could someday cure diseases like cystic fibrosis.

Ehlers-Danlos Syndrome-- a disorder in how collagen functions in the body. This activity is intended to have students hypothesize what would happen if a protein (like collagen) did not function properly.

Huntington disease-- a degenerative brain disease with primarily adult onset.

Hemophilia-- a bleeding disorder caused by a deficiency in a blood clotting factor.

Ichthyosis-- a skin disorder causing an accumulation of skin cells.

Marfan Syndrome-- a disorder in how fibrillin functions in the body.

Muscular Dystrophy (Duchenne)-- a disease that causes the wasting of muscles in the body.

Neurofibromatosis-- a disease characterized by pigmented skin spots. The activity explores the myth that neurofibromatosis is the disease associated with the "elephant man."

Phenylketonuria-- a disorder where an element of diet can cause severe brain damage. This is one of the few genetic disorders that can be entirely controlled and eliminated through diet.

Polycystic Kidney Disease-- a disease causing cysts to grow on the kidneys. This is a leading cause of kidney failure.

Tay Sachs-- a degenerative disorder historically predominant in Ashkenazi Jewish populations. In this disorder individuals are born normal and develop normally for about six months. Then they start to degenerate until death occurs (usually by age 4 or 5). This is an ethics activity based on testing for Tay Sachs and can illustrate the effectiveness of genetic counseling. organ transplantation.

Porphyria-- an autosomal dominant trait that causes levels of porphyrins (components of red blood cells) to build up in the body.

Trisomy 21-- also known as Down Syndrome. This activity is an enjoyable way to introduce mitosis, meiosis, and nondisjunction.

  Now, It is time to research your genetic disorder!!

o       Name of Disorder: 

o       Genotype/Chromosome #/Gene Name (if listed):

o       Phenotype:  

o       Cause/cellular level: 

o       Testing; 

o       Foundations/Research Organizations: 

o       Cure/Treatment:

      o       Interesting Information: