Private Genetics | Medical company
Private Genetics
Phone: +61 1300 525 000
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25.01.2022 http://www.autismawareness.com.au//dad-a-film-about-autis/ A shout out to the dads. A documentary telling the story through dad's eyes.
22.01.2022 From July 2019, undertaking a genetic test will not affect your ability to access life insurance. Deciding to have a genetic test can have lots of personal and family implications - these still need to be thought through beforehand. We are here to help you consider your options and make the right choice for you. Read more about the announcement from the Financial Services Council of Australia. ... https://www.fsc.org.au//c5cbac97-9fdc-e811-8165-480fcff12a See more
15.01.2022 Dear families, This is a long read but worth reading to the end. This research group are enrolling and have their finger on the pulse. At least subscribe to their page and stay up to date
08.01.2022 A brave family who love their child passionately. It is good to have the discussion, even a heated debate but please be kind
07.01.2022 So.....I'm interested to know of you would take up this option at the GP? How will it change the way you do things? At the moment,I don't think it is covered by Medicare.... https://www.smh.com.au//dna-testing-is-about-to-come-to-gp
03.01.2022 NB this is an incomplete version, in the latest version, I added some important results from our study on Koolen de Vries, please look at and share the latest ...version At last, news from Genida.... Dear followers of GenIDA and especially dear families participating actively to our project You had no news from us, at least on this Facebook page since mid-june 2019, just after the meeting of our scientific and ethic advisory board that took place at the European Society of Human Genetics (ESHG) conference in Gothenburg (Sweden). The reason for this silence is that we (Florent and Jean-Louis) have been very busy, Florent being full time on the projet, and me only part time but busy with many other occupations related to rare diseases. Florent has been working hard to check and analyse the large set of data related to the Koolen de Vries syndrome, as we are completing, with David Koolen (Nijmegen, Netherlands), the first medical research publication based on the contribution of close to 200 families with a child with KdVS who answered the Genida questionnaire. A number of them also answered specific additional questions on 1) issues of treatment of epilepsy (that affects about 50% of "Kool kids" (children with KdVS), which drug(s) used and the response (beneficial, without effect or with adverse effect), 2) circumstances related to respiratory problems (childhood asthma, or pneumonia or other infectious respiratory events) reported by parents in about 35% of children with KdVS, a medical problem that had not been recognized previously, and showing the usefulness of parents input through Genida. Registration by parents to Genida continues steadily, but at a rate we would like to increase substantially in order to have useful information on many more genetic forms of intellectual disability, autism or epilepsy . At present, 772 parents have answered the questionnaire on behalf on an affected individual. A novel group has been particularly efficient, for the MED13L condition, thanks to Dr Thomas Smol in Lille and to the active MED13L syndrome association. We will be thankful for readers of this page to encourage through their friends, patients associations or Facebook pages related to GenIDA target genetic conditions, concerned parents to registrate and answer the GenIDA questionnaire. Medical professionals who follow affected children or adults can also play a major role in encouraging families in contact with them to do so. Another very positive outcome in the last few months is that our funding requests have been quite successfull, as we obtained 30 000 from Roche Institute, through the Fondation Unistra (foundation of the University of Strasbourg) and 57 000 over 2 years from the Fondation Jerome Lejeune, notably to orient part of our activity on adult individuals affected by Fragile X syndrome or Down syndrome. Although there has been a lot of published work on affected children, there is much less information on the medical problems encountered by adults, especially aging ones. We also obtained a 5000 yearly support from the French filière Maladie Rare AnDDi-Rare, very helpful for allowing us to organize the yearly Advisory board meeting, and for other encounters with patients associations. Although this allows GenIDA to pursue, if we want to reach our goal, we will need further funding, notably to recruit an informatician. We have also actively pursued our effort to inform professionals about GenIDA: I have presented GenIDA goals at the major meeting on RARE diseases in Paris (Rencontres RARE 2019, on nov 5-6 in Paris), in an encounter with physicians and genetic counsellors at the Dept of Medical genetics at Hopital Erasme from Université Libre Bruxelles, in Brussels (Belgium), at a closed meeting on participatory science with experts and member of French Parliament, in the superb setting of Hotel Lassay in Paris, and finally, in september, at an important specialist meeting, the 19th international workshop on Fragile X and other neurodevelopmental disorders. We remind you that you can find more information on Genida website https://genida.unistra.fr/, where you can registrate, look at the questionnaire (currently in 5 languages) and answer it if you are a concerned parent, and also look at some overview of results for the largest patients cohorts. In 2020 we will open much more largely access of anonymized data in Genida to professionals and concerned parents Finally, with our best seasons greetings to all of you, you will find a few pictures of Christmas time in Strasbourg, Capitale de Noel (Christmas capital), with beautiful illuminations. To some of our dear patients associations friends https://www.facebook.com/kdvsfoundation/ http://www.med13lsyndrome.eu/ http://www.med13l.org/ http://www.kleefstrasyndrome.org/ http://www.kleefstrasyndrome.fr/ http://kbgfoundation.com/
