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While he struggled to understand the baby’s strange condition, Tay could only watch as the child grew increasingly weaker over the next few months.
The “cherry-red spot” would be become one in a list of identifying factors for the rare disease first studied by Tay and later, the American neurologist Bernard Sachs.
Tay-Sachs disease is a genetic disorder caused by the absence of the vital protein Hexosaminidase A isoenzyme (Hex-A). The answer could lie with an animal that has been around since biblical times, a rare breed of spotted black-and-white sheep—the Jacob sheep.
Sheep are well-known to insomniacs; they are the fluffy, gentle creatures we count when we cannot sleep. Researchers from various universities joined efforts to autopsy four Jacob sheep that had died of symptoms similar to those of the Horak’s lambs.
The discovery presented an unexpected opportunity to test a potential gene therapy for the treatment of Tay-Sachs in humans (Friedman, 2010). Most importantly, Jacob sheep have a remarkable 86% DNA similarity with humans, which is more than flamingos or penguins do. Despite many breakthroughs, scientists still do not understand the process by which the accumulation of gangliosides affects neuronal function.
The Jacob sheep is the first viable large animal model to be used in the study of Tay-Sachs disease.
Jacob Sheep are easier to raise and study in the lab than other animals such as flamingos and penguins. Enter your email address to subscribe to this blog and receive notifications of new posts by email. The frantic mother was not alone in wondering if she could have done something to have prevented this abnormality.
CHD is an abnormality that results from the heart or blood vessels near the heart not developing properly before birth. In order to lift some of the burden off the mother’s shoulders, and to answer the questions surrounding CHD, scientists have recently been using Danio rerio, more commonly known as the zebrafish, as a model to study the condition. Mutations of multiple genes that affect common developmental pathways have been found to be associated with CHD.
The zebrafish model is crucial to gene discovery, allowing scientists to uncover important clues about the function of candidate genes (University College of London, 2011).
Without a doubt, this new and successful animal model holds much hope for future CHD research.

The use of zebrafish is still in early stages, but this model has the potential to aid in the discovery of treatments or even a cure for those with CHD. Best wishes in your future endeavors, it looks like you’re well on your way to a bright future! This is really interesting seeing science deviate from the usual animals they use: rats, rabbits, etc. Lancaster?” The ophthalmologist deftly grasped the squirming baby, shining a light into his eyes. Tay.” The child’s gaze slowly followed the light’s movement, and he let out a loud wail of discomfort. Tay carefully recorded his observations along with the mother’s commentary—no paralysis despite weakness, delayed tracking, exaggerated startle response, and that odd spot (Brody, 1997). As other babies started speaking and walking, this child became quieter and quieter, emitting only the occasional gurgle. However, neither would fully understand the mechanisms behind the disease known today as GM2 gangliosidosis or infantile Tay-Sachs disease. After discovering an absence of the Hex-A activity and an unusually high concentration of gangliosides in the brains, the scientists realized that the Jacob sheep had Tay-Sachs disease. Because of this genetic similarity, the clinical and biochemical features of the Jacob sheep model are likely to mirror those of the human infantile form of Tay-Sachs well (Torres et al., 2010). Promising treatments such as gene therapy are in development, but none has been clinically approved yet (Sargeant et al., 2012).
We are counting on these sheep to save families from the nightmare of watching their beloved babies die from a genetic disease for which there is still no treatment or cure. The new parents had just received devastating news: Their beautiful baby was born with a heart abnormality called Congenital Heart Disease (CHD). Since there is no identifiable cause of CHD, much of the burden is placed on the mother, who is often left feeling that she harmed her child during her pregnancy (Lucile Packard Children’s Hospital, 2013).
It can be fatal, but if treated properly and within the correct time frame, it can be corrected through medication or surgery (Mayo Clinic Staff, 2011).
It affects the structure of a baby’s heart and how it functions, changing the way blood flows through the heart and out to the rest of the body. Zebrafish embryos are completely transparent, making them ideal for studying developmental processes as they occur and allowing for direct visualization of developing organs, such as the heart (University College of London, 2011).
Because they reproduce rapidly and have very high reproduction rates, researchers have access to multiple generations and a large number of fish.

I am a sophomore in high school and this is my first year being a part of curiousYOUNGwriters. Your daughter’s story is truly inspirational and I am happy to hear that she is doing well. However, infants with Tay-Sachs possess a gene mutation that makes them unable to produce Hex-A.
However, not only did flamingos and penguins prove difficult and expensive to care for, but they also produced offspring infrequently (Torres et al., 2010). This means that treatments like gene therapy that are carried out successfully in Jacob sheep are much more likely to succeed in humans. Research has an enormous impact upon society, and after being inspired by the scientific studies I have researched, I hope to one day conduct similar research as a biomedical pharmacologist.
The fact is CHD is the most common birth defect in the United States and approximately 35,000 American babies are born with Congenital Heart Disease (CHD) each year (Phoenix Children’s Hospital, 2012). CHD scales from very mild to very severe, and is treated accordingly through medication, surgery, or a combination of both. Despite what scientists do know about CHD, the disease is far from fully understood, creating a need for accessible animal models (Cambridge Student Journal of Genetics, 2013).
Additionally, exceptional tools exist for genetic manipulation of zebrafish, making them ideal for developing gene therapies (University College of London, 2011). As a result, fatty substances, or lipids, quickly accumulate inside neurons causing severe nerve damage (Sargeant et al., 2012).
In my spare time, I enjoy reading poetry and plays, baking cupcakes, and computer programming. The causes of CHD are so vast that doctors can have difficulty determining the exact cause in certain cases. She has had 3 open heart surgeries (the first at 3 days old & a 10% of survival) and is now 15!

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14.07.2015 admin

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