With mutations come conditions associated with them. There are three types of genetic disorders; Chromosomal (where chromosomes are missing), Complex (where there are mutations in more than one gene), and Single-Gene Disorders. Tay-Sachs is considered a single-gene disorder as the mutation affects one gene.
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What is a mutation? Mutations are alterations in one’s DNA sequence. They result from changes in the structure of an encoded protein as a DNA sequence is being copied. Mutations can either be inherited from your biological parents, or acquired after birth. Mutations range in size, from a single DNA building block, to a large segment of a chromosome that incorporates multiple genes. They can also have different impacts, from harmful, to beneficial, or have no effect at all.
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From the challenges of 2020, Blu Genes has persevered because of our loyal supporters such as you - who have continued our mission, in advancing gene therapy research for rare disease, starting with #TaySachs. We want to start the new year off by thanking you for your support. This year has shown us how many people care and believe in our cause, and we are profoundly grateful. We will continue to share our message and move forward this year! ⁣
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Think about making a positive impact and starting off 2021 on the right track. Make a donation to #BluGenesFdn today or look to set up a recurring donation! Share our message or donate at the link in our bio!
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Here’s to 2021! 🍾
Have a great first day to 2021 everyone!
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Though there will be no traditional #NYE parties and ringing in the New Year will look a little different for some of us, we are still grateful to be going into a new year with a fresh start - let’s raise a glass to the brighter days ahead! 🥂
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DID YOU KNOW?
About 16 cases of Tay-Sachs are diagnosed in the United States each year. Although people of Ashkenazi Jewish heritage (of central and eastern European descent) are at the highest risk, people of French-Canadian/Cajun heritage and Irish heritage have also been found to have the Tay-Sachs gene. Some people carry the genetic mutation that causes Tay-Sachs, but do not develop the disease.
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Happy Holidays and Merry Christmas from the entire #BluGenesFdn Family!
We ask that you be safe and thoughtful in who you are able to celebrate with this year.
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Give better gifts this season! Participate in the year-end charitable giving season with a donation to Blu Genes Foundation, help us find a cure for #TaySachs disease. The holidays can be an opportunity to give gifts of philanthropy that can save and change lives. Donate today at the link in our bio.
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DID YOU KNOW?
#TaySachs has three different categories: infantile, juvenile and late onset. With infantile, babies show symptoms at 3-6 months and will progressively lose their neurological function. Juvenile is rare where symptoms appear later in life - at ages 2 or 3. Late onset is usually not fatal, but can lead to cognitive and physical decline.
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Wishing all those celebrating a very Happy Hanukkah - we hope you had wonderful Celebrations! 🕎
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Missing the sunshine and good company - throwback to our first Velo Blu Pedal for Blu Genes! #throwback
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Tay-Sachs, which typically affects infants, results from the absence of an enzyme called beta-hexosaminidase X, which prevents the harmful accumulation of a fat in the brain and spinal cord. Babies are typically affected in utero appear normal until 6 months old, where they begin to regress. The disease is nearly always fatal by age 5.
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What are the chances you are a carrier of Tay-Sachs?
1 in 27 Ashkenazi Jews, French Canadians or Louisiana Cajuns
1 in 50 Irish-Americans
1 in 250 from the general population
One of the most insidious features of #TaySachs disease is that it often strikes families with no prior history of the disease
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Today is #NobelPrizeDay and we want to look back and honour the 2020 Nobel Prize in Chemistry, Emmanuelle Charpentier and Jennifer Doudna! They are pioneers of revolutionary CRISPR gene editing. This technology allows precise edits to the genome and has countless applications that researchers hope to use to alter human genes to eliminate diseases, such as #TaySachs. @nobelprize_org
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Happy Hanukkah! Wishing everyone eight days and nights of happiness 🕎
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There may be as many as 7,000 rare diseases. The total number of Americans living with a rare disease is estimated at between 25-30 million. In the US, only a few types of rare diseases are tracked when a person is diagnosed. These include certain infectious diseases, birth defects, and cancers. It also includes the diseases on state newborn screening tests. We need to do more to help those with rare diseases. Join us at the link in our bio!
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A day dedicated to showing support and transforming how people think about, talk about, and participate in this giving season. Every act of generosity counts, especially when we give together. Whether it’s your time, skills, or money, we appreciate your help.
You can share our message and donate at the link in our bio to help us reach our goal of finding a cure for #TaySachs
@givingtuesdayca
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We all know #BlackFriday is meant for great deals and shopping - but we also encourage you to stop for a moment and think if there are any material items that you can give up on purchasing this year- and instead make a donation to a worthy cause. With all the big sales around this time of year, small charitable organizations often get forgotten. Help us raise funds and awareness at the link in our bio.
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Happy Thanksgiving to all of our friends in the United States today! 🇺🇸🦃 We hope you enjoy your safe get togethers with those close to you!
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