Helix

 
Patricia Martin full

Helix is an educational series for young adults by Patricia Martin

There are over 6,000 genetic disorders, most of which are so rare the public does not know they exist. Patricia Martin, a senior at Florida State University, has taken this as inspiration for an educational web series, called Helix. Using GEOSET Studios' state of the art recording equipment and editing software, Patricia wishes to educate the public on these rare disorders through a series of short videos. She begins her series with a seven-minute long video about modern genetic theory, then dives into the exciting field of genetic disorders with three to five-minute long videos for different disorders. In her videos, she talks about the symptoms of the genetic disorders, how they can be tested for and treated, how they can be passed down from generation to generation, and prevalence rates. At the end of each video, she mentions charities and organizations that work on supporting families of individuals with said genetic disorder, or work toward finding treatments or a cure, not only educating the public, but bringing light to these organizations to hopefully receive more donations or volunteer efforts. The videos are then posted on the GEOSET webpage for public viewing. Some of the genetic disorders that are currently discussed on Helix include the two related chromosomal disorders Turner Syndrome and Klinefelter Syndrome; the blood-related disorders Sickle Cell Disease and Hemophilia; Tay-Sachs Disease and Wilson Disease, two very rare disorders; and two more common disorders, Down Syndrome and Autism. These last two disorders were selected because although they are more common and well-known disorders, they are two disorders with many public misconceptions, which Patricia wanted to clear up. Some topics for future Helix videos include hereditary breast cancer, cri du chat, Marfan Syndrome, Cystic Fibrosis, Huntington's Disease, Fragile X syndrome, and many more.

 

List of Episodes:

Genetics

Tay-Sachs disease

Turner Syndrome

Klinefelter Syndrome

Down Syndrome

Sickle cell disease

Hemophilia

Wilson Disease

The autism spectrum disorders

 

Genetics

 

Tay-Sachs disease is a disorder caused by the absence of the enzyme hexosaminidase-A. Lacking this enzyme causes children's cells to accumulate the lipid GM2 ganglioside. This accumulation causes progressive damage to the cells, and most children die from the disorder by age five. Return to top

 

Turner Syndrome results due to damage to the X chromosome in females. It causes defects in development, such as a shorter than average height, webbed neck, heart and kidney problems, and infertility.Return to top

 

Klinefelter Syndrome occurs in males that have an extra X chromosome. Symptoms include infertility, gynecomastia, tall stature, and underdeveloped testes. This also leads to an increased chance of developing breast cancer and autoimmune disorders.Return to top

 

Down Syndrome occurs when an individual has an extra number 21 chromosome, and results in learning difficulties, mental retardation, poor muscle tone, and a characteristic facial appearance. Individuals with Down Syndrome also have an increased risk for heart defects, digestive problems, hearing loss, and lower than normal thyroid activity.Return to top

 

Sickle cell disease, also called sickle cell anemia, is caused by a mutation in the hemoglobin-beta gene on chromosome 11. It causes a sickle shape in red blood cells, making them stiff and allowing them to stick together. These abnormal red blood cells are quickly destroyed in the body, causing anemia. The disease also causes lung tissue damage, as well as damage to the spleen, kidneys, and liver.Return to top

 

Hemophilia is another blood disorder that slows the clotting process. This leads to spontaneous bleeding into the joints as muscles, and longer bleeding after an injury. The two most common types of hemophilia are each due to the absence of a different blood clotting factor.Return to top

 

Wilson Disease is a condition where the body stores too much copper. This leads to copper build up in the liver, brain, eyes, and other organs.Return to top

 

The autism spectrum disorders are a broad group of developmental disorders that involve impaired social interactions, problems with verbal and nonverbal communication, and repetitive behaviors. Causes of autism are still unknown, although they are believed to be a mixture of genetics and environmental factors.Return to top

 
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