Tay-Sachs disease - causes, symptoms, diagnosis, treatment, pathology

What is Tay-Sachs disease? Tay-Sachs disease, or TSD for short, is a lysosomal storage disorder caused by a mutation in a gene on chromosome 15, which codes for a lysosomal enzyme called beta-hexosaminidase A, or HEX-A for short. Find our full video library only on Osmosis: osms.it/more.
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[@moon01028]

Unfortunately, my brother died to this disease. R.I.P. My brother Ashton George Allen 2017-2020

[@moon01028]

​@Pam Graham Inbreeding means to breed from closely related people or animals, especially over many generations. I understand why you say this, but it can be interpreted as rude. The chances of the disease happening to a new-born are 1 in over 10,000,000, I believe. People most likely are unaware about the fact they carry the same faulty gene as their partner and when they have children, the child/children still only has/have 25 percent chance of having Tay-Sachs each. We aren't technically inbreeding, the parents are MOST LIKELY not related, and the faulty gene is not always based off the parent.

[@tylerrebik7700]

I'm not inbred, my ancestors were.

[@roxannedunstanharvey4898]

@Pam Graham No one in my community is marrying their first cousin. But unfortunately when you come from a small village in an isolated area sooner or later everyone is related to you to some degree. Even if you skip town you might wind up with someone who's a descendent of other people who left too. It's important to know your status just in case your partner is also a carrier just by dum luck.

[@crichey56]

@Pam Graham ugh.. grow tf up. a baby loses its life yet that's what you thought and decided to stop and write. I Hope to God your child never has something so unfortunate happen to them IF you (ever) have any. Perhaps learn some damn compassion along the way. just ugh.

[@joelvanwinkle5976]

I’ll figure out a way to use crispr cas 9 to fix the error in the hexa gene to cure ray Sachs forever

[@theresegulde8948]

Currently making a paper about this disease for my biochem class and wanted to understand more about it. Always on time, Osmosis! Thanks for this!

[@imaztk4620]

Therese Gulde best of luck!

[@theresegulde8948]

Thanks!

[@bencrox4864]

i’m writing a paper on the disease right now. i’d love to read your paper to improve my grade.

[@mordechairogelio8864]

i know im randomly asking but does someone know of a method to get back into an Instagram account?? I was stupid forgot the password. I would love any assistance you can offer me.

[@Sinchansuvarna]

🥁🎧🎲🎧🎟🤹‍♂️🎺🎧🎤🎹

[@howtomedicate]

You can always count on osmosis to bring us interesting videos! Cool topic, and well explained 👍🔥

[@ElectricalExistence]

he just informed us that even though ashkenazi jews are semites mixed with european dna, that they are still so inbred even after race mixing that they carry this genetic disease to this day. i find this hilarious.

[@chriscash7779]

Sad for the little ones...Sadder for the parents who have to watch a child die of these diseases. But yes, as we have testing now....get the word out. Good video.

[@shinojay8114]

thank you so much, I needed to write a paper for this disease and this video was super helpful!

[@osmosis]

Our pleasure 💖

[@bloomprinceton]

Just diagnosed a case of tay sachs at the E.D today

[@jayabalan7788]

Is there any chance to save childs life

[@joelvanwinkle5976]

Crispr cas 9

[@EagleSpirit2825]

My friends son was diagnosed with this & unfortunately succumbed to it at 2yo. Thanks for the informational video.

[@osmosis]

We hope this video was helpful 🙏🏼

[@lovenlight1320]

Who else likes that sound in the LAST , and wait to listen 👀till the end !!

[@charliepiper5344]

Great video, very helpful, thank you 🙏🏼

[@osmosis]

Our pleasure, Charlie! 😊

[@danielpoon4708]

This is my science project and ur so good at explaining it

[@osmosis]

We hope our video was able to help in your science project, Daniel! 💫

[@allieshepard7791]

Didnt know anyone with this loved very long, so thanks.

[@annahaque136]

Fantastic summary

[@osmosis]

Glad you think so, Anna! ❤️

[@sherymalik7244]

My doughter also suffering from this disease she is now 3 year old please help me I am worried about her 😭😭🥺🥺

[@blisky3229]

how is she doing now?

[@Shub.267]

Nice one

[@Sam-fp8zm]

The patients can't recycle ceramide properly leading to a deficiency of it, and all the other lipids made of it. Taking some brewers yeast each day or eating some lambs brain each day both of which are high in ceramide might help.

[@mirizapisotskygoldshtein4634]

THANK YOU:)

[@missadel20]

Praying HaShem heals her!!!

[@elizabethCorkins83]

Hi

[@dhiahassen9414]

hhhhhh

[@marleydocia7096]

5:07

[@s.iremnureren6963]

How can I get that slide ?

[@schnaidadurand6921]

If you have an iPhone you can just recorded it

[@sophiawisdom5579]

Please. Slow downnnnnn

[@osmosis]

Hi Sophia! You may adjust the playback speed to a more comfortable speed by selecting on the settings icon at the bottom part of the video player. 😊