Lynn Kamerlin

@kamerlinlab

Computational biochemist, Professor at Uppsala University. Chair, UPPMAX Board. Pianist, amateur photographer, vegan foodie, dreamer. All views my own.

Vrijeme pridruživanja: siječanj 2011.

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  1. Prikvačeni tweet
    18. lis 2019.

    Benjamin Orion Kasson. Every day of your short life, you have made mine so much richer. When you are gone, you will leave a void in my heart so vast it can hold the entire universe. I love you to the moon and back kiddo, with every fiber of my being.

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  2. proslijedio/la je Tweet

    Spectacular female -ists are a-plenty. Let's nominate them!

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  3. prije 14 sati

    Big congratulations to Marina Corbella for being awarded an MSCA Individual Fellowship to continue work in our group, in collaboration with Rafael Guimaraes da Silva at the University of St. Andrews.

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  4. 3. velj

    Worth thinking about for anyone looking at protein variants, that the super lethal DYNCH21 variant I carry involves a simple R-->Q substitution in the central ATPase subunit of the IFT dynein-2 complex. It takes very little to be totally lethal...

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  5. proslijedio/la je Tweet
    31. sij

    Did you know? Rare Disease Day is a global awareness raising campaign promoting equity for all people living with a rare disease. Download and edit infographics from . Share them to spread the word about Rare Disease Day on 29 February!

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  6. 3. velj

    Thank you! I am actually just raising awareness, as part of my general campaigning for 2020

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  7. 3. velj
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  8. 3. velj

    It is not even known how frequently SRPIII occurs. It's more "common" and "less fatal" sibling, Jeune's syndrome (~70% fatality rate), affects between 1 in 100,000-130,000 babies. I have only found my variant in one PhD thesis from 08/2019, it's that rare. 3/n

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  9. 3. velj

    SRPIII causes short-limb dwarfism, coupled with postaxial polydactyly, and asphyxiating thoracic dysplasia as main symptoms. It can also cause cardiovascular defects, renal agenesis, and other unpleasant side problems. It is always fatal in the perinatal period. 2/n

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  10. 3. velj

    My husband and I are both carriers of compound heterozygous variants in the DYNC2H1 gene, which is responsible for ensuring normal cartilage and bone development. Our variants when brought together, cause a lethal skeletal dysplasia, short rib polydactyly type 3 (SRP III). 1/n

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  11. proslijedio/la je Tweet
    2. velj

    Twice as many foreign academics are in temporary positions in Sweden

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  12. proslijedio/la je Tweet
    2. velj
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  13. 2. velj

    Rare diseases may be rare individually, but they cumulatively affect many more people than you might know. Did you know there are 300 million of us living with them worldwide.

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  14. proslijedio/la je Tweet
    7. sij

    Out now! Download the official poster for 2020 now available via . Share it today to show your support for the rare disease community!

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  15. proslijedio/la je Tweet
    29. sij 2017.

    Yet to see the 2017 video? Watch, enjoy and share it to become a part of the international campaign! Be part of the change!

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  16. proslijedio/la je Tweet
    1. velj
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  17. 2. velj

    29th of February is Rare Diseases Day. As part of this, during February, I will be sharing information about various rare diseases that I either have myself, or that had affected Benji and Laila.

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  18. 2. velj
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  19. proslijedio/la je Tweet
    1. velj

    I think this kind of patient involvement with doctors can be very important, especially with rare disorders like Kallmann syndrome, which might not be encountered often by some medical professionals. Presentations like this can help doctors & fellow patients.

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  20. proslijedio/la je Tweet
    1. velj

    A talk given by a KS friend of mine to a group of doctors, talking about his experiences with Kallmann syndrome. An honest and frank account which I think a lot of fellow KS / CHH patients can relate to.

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  21. proslijedio/la je Tweet
    1. velj
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