Paldeep Atwal - Discovery of AEBP1-related EDS

Рет қаралды 4,062

5 жыл бұрын

In this webinar from December 5, 2018, Paldeep Atwal discusses the discovery of AEBP1-related EDS and the expansion of understanding of EDS and related disorders.

Пікірлер: 12

@quinn2014 Жыл бұрын

If anyone sees this in 2022: AEBP1 related EDS is now classified as clEDS type 2.

@breezybee3774 11 күн бұрын

I literally just found this gene in my raw data!! Theres NO WAY I have this rare of a type right? They didnt test for this one..

@msmicky1457 5 жыл бұрын

How does one get genetically tested for this paticular type of EDS?

@TheEhlersDanlosSociety 5 жыл бұрын

It's a very, very recent addition (since 2017) and not yet defined as to diagnostic criteria. A bit more background can be found at www.ehlers-danlos.com/a-new-type-of-ehlers-danlos-syndrome-discovered/ and through the link included there to the originating paper. At this point there are some very specific variants identified; genetic testing would examine the AEBP1 gene for those variants.

@thehippieologist4091 5 жыл бұрын

Emma Dr Atwal is my doctor and sees patients via telemedicine. He provides genetic testing and consultation. His website is www.atwalclinic.com He is very kind and compassionate as well as brilliant.

@thehippieologist4091 5 жыл бұрын

Emma Jones see my response below it did not tag you.❤️

@msmicky1457 5 жыл бұрын

@@thehippieologist4091 I have already emailed him quite sometime ago. He suggested I see a local genetists

@GoodnightJLH 5 жыл бұрын

Thank you for doing this amazing work.

@jeseades1 4 жыл бұрын

Is this considered a link to hEDS?

@TheEhlersDanlosSociety 4 жыл бұрын

This is a new type of EDS www.ehlers-danlos.com/a-new-type-of-ehlers-danlos-syndrome-discovered/ and hEDS still has no identified cause. If you have the AEBP1 mutation, you wouldn't be diagnosed as having hEDS. It's possible there have been some with AEBP1 who had been diagnosed with hEDS, but there aren't any indicators so far this is a large percentage.