NEWSLETTER

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  • Caregivers of patients with rare diseases

    28/02/2019
    Posted by:

    Dr.M.Raszek


    Being a rare disease caregiver is an intimate story of compassion, as almost all caregivers live in the same household as their care recipient, and this usually involves caring for an immediate relative. For most, it is a tale of familial love and enormous dedication, which is staggering in proportion to what a daily routine of a typical adult might be. Only 1% is dedicated to the care of non-family members. Caregivers are modern-day heroes, quietly going about their demanding lives, without fanfare, and unfortunately too often, without much support to ease their difficult duties. On this international Rare Disease Day we dedicate this post to the topic of those who take care of the people afflicted with such conditions.


  • The value of DNA sequencing at birth

    31/01/2019
    Posted by:

    Dr.M.Raszek


    Can sequencing at birth identify genetic findings that are potentially life-saving? Finally, the first results from the BabySeq project which investigated the impact of full genome sequencing in babies soon after birth suggest that DNA testing can uncover the risk of childhood-onset disease in much higher rates than previously anticipated, at nearly 10% of infants (9.4%). We are talking about conditions that were otherwise completely unanticipated to be present in these children based on their appearance, clinical examination, or family history. Furthermore, adult-onset conditions, which are typically not recommended to be investigated in children, were discovered at a rate of 3.5% in otherwise presumed healthy infants.


  • Clinical utility of your genome

    10/05/2018
    Posted by:

    Dr.M.Raszek


    One of the most frequently-used arguments against direct-to-consumer or direct-to-provider (as in a doctor acting on a consumer’s behalf), DNA sequencing tests is the much-touted lack of the demonstrated clinical utility of such tests. I always somewhat scoffed at this argument, because I saw it as a form of a “chicken-and-egg” type of situation. I obviously agree that consumers need to be protected, and not sold bogus tests that do not provide any benefit. However, on an individual basis, the clinical utility of extensive DNA sequencing tests has been demonstrated copious number of times. But it is true that it has not been demonstrated on a population scale. The good news is that scientific data has been trickling in.


  • Pesky common diseases have pesky genetic roots

    31/03/2018
    Posted by:

    Dr.M.Raszek


    The complex traits you inherit exist due to a confluence of many different genes and other areas of your genome, dozens, or even hundreds, of different tiny or big variations dispersed throughout people's genomes. To give you some familiar examples, coronary heart disease, type 2 diabetes, hypertension, and obesity fall into this category. Another famous one is diabetes. As well as many cancers. The underlying genomic architecture behind these problems is so convoluted, that how these genome variations come together to produce the final outcome is just a mystery. So they have not entered the stage of clinical action, but as time goes by, it is expected that one day they will. Which is exciting because a sequenced genome is a genome that keeps on giving!


  • Are you the type of person who would hunt for rare treasure?

    28/02/2018
    Posted by:

    T.Browning and Dr.M.Raszek


    What makes a person rare? By our definition, it is a limited quantity of people, who are deemed unusually good. A rare person is someone different than the “typical” population. The rarest people then, would be those with a rare condition. Would we say they are unusually good? Are they held in high esteem? Do they receive a place of honor? I think you know the answer.


  • Current genome sequencing diagnosis success

    12/11/2017
    Posted by:

    Dr.M.Raszek


    It cannot be denied that next-generation sequencing has tremendously impacted clinical diagnostic potential. If you suffer from a genetic disease that continues to be unsuccessfully diagnosed using traditional approaches (referred to as a “diagnostic odyssey”), then there is a good chance that genome sequencing will be a viable solution.


  • When your blood is your enemy

    31/03/2017
    Posted by:

    Dr.M.Raszek


    Life can be seemingly normal, as everything is working fine, until a clot is formed and leads to plugged blood vessel. I probably do not have to tell you that plugging any pipe is usually not a desired event in any typical context, so when it happens in your body, it can be outright dangerous! Thrombophilia is a serious condition that might not even be suspected until a family history is revealed, or a serious condition develops.