NEWSLETTER

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  • Hearing loss DNA testing

    08/08/2020
    Posted by:

    Dr.M.Raszek


    In this post we wanted to recount the story of a family with children that presented with hearing loss with no prior family history. It turned out to be very unique account of unsuspected genetics - a paradigm that will continue to happen with greater frequency as more people chose to analyze their DNA. This story demonstrates the potential power of proactive screening of one’s genetic state, and even hints at when it might become a necessity with regards to planning a family.


  • Antibodies against SARS-CoV-2

    25/04/2020
    Posted by:

    Dr.M.Raszek


    We naturally build antibodies against infectious agents that we come into contact with. Thus if someone gets infected with SARS-CoV-2 virus then they will produce antibodies against it. But now imagine, it would be pretty handy if you could have access to such antibodies without the need of infection. So how do we get our hands on such antibodies that we could use for treatment?


  • Options for prevention of COVID-19, options for treatment of COVID-19. What does research find?

    07/04/2020
    Posted by:

    Dr.M.Raszek


    Perhaps this article is massively overdue. It is in fact a continuation of what we touched upon in our very first foray into studying the structure of SARS-CoV-2, when we mentioned one study which looked into potential compounds that could inhibit viral infection. The need for this story has since massively expanded, so in this post we will take you so deep that we peer into atomic structures and traverse the landscapes of biological molecules and list some our favourite chemicals that we found that might have protective capabilities against COVID-19!


  • COVID-19 coronavirus and ethnicity differences

    20/03/2020
    Posted by:

    Dr.M.Raszek


    One of the more compelling questions that has been asked around with regards to the Wuhan coronavirus is whether it infects different ethnic groups to a different extent. One paper was published recently that attempted to answer that question, and showed that indeed there could be racial differences for coronavirus infection based on what type of genetic mutations different populations might have. So let’s break it down.


  • Wuhan corona virus uniqueness – what does science say?

    09/03/2020
    Posted by:

    Dr.M.Raszek


    The origin of the SARS-CoV-2 virus has not been conclusively demonstrated. Meaning we do not know how it started to infect humans. There has been a tremendous amount of confusion and rumours with regards to whether this virus was human engineered rather than originating from nature. So let’s pose the nasty question: could the virus be synthesized by humans? To answer this we will dive deep into current scientific understanding of the architecture of this virus, and find out what makes SARS-CoV-2 coronavirus unique enough to have stirred so many controversies so quickly.


  • Can you hear the music?

    29/02/2020
    Posted by:

    C.Degenhardt


    To commemorate international Rare Disease Day 2020, we have a story of two boys growing up together, one with a rare disease, one without. A story that teaches us to appreciate the beauty that is gifted to us sometimes in most unexpected manner.


  • Alberta Health Services genetic testing 2019 overview

    06/11/2019
    Posted by:

    Dr.M.Raszek


    The world of genetics and genomics is vast both in private access to medical genetics as well as public. But how vast is it here in Alberta? We catalogued all of the different tests available in the Alberta Health Care Genetics and Genomics program.


  • How can birth defects be prevented?

    28/10/2019
    Posted by:

    J.Phillips


    Birth defects continue to be a major challenge in Canadian health care, affecting 3-5% of newborns, and the impact of these birth defects on the levels of infant mortality and childhood morbidity are profound. Although it is unlikely that we will ever be able to prevent birth defects entirely, research tells us that there are still many ways in which we can reduce the risk of our children having a birth defect.


  • Birth defects

    10/10/2019
    Posted by:

    J.Phillips


    Birth defects are disabilities and disorders that are present in an infant from the time of their birth. They affect approximately 1 in 25 newborns each year. 1 in 5 newborn deaths result from birth defects primarily due to defects of the heart, lungs, brain, and contribution of genetics. Since birth defects have such a profound impact on both the lives of families and society as a whole, it makes sense that a lot of effort is focused on treatment and prevention.


  • DNA carriers can be in trouble too

    23/07/2019
    Posted by:

    Dr.M.Raszek


    If only one of the two genes is mutated, the person is considered a carrier, and typically is not affected by the disease. In essence, the other good copy of the gene inherited from one of the parents rescues the deficiency of the broken gene that was inherited from the other parent. But DNA mutation carriers can sometimes exhibit some disease symptoms too. The patient’s understanding of their history might have to act as the guiding parameter, judged by the test ordering doctor if the condition should be further screened for or not.


  • 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.


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