I'm a Hungarian medical student with an English medical blog (Scienceroll ) on genetic testing...
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Some months ago, I wrote about Juan Magdaraog who is blogging about his struggle with Pompe disease, a rare, but important genetic condition. He let me know about an essential problem: the diagnostic delay.
The diagnosis often poses a dilemma due to the rarity of the disease, the variable rates of progression and the unspecific phenotypic features… Just take a look at the diagnostic delay diagram, there are from 2 to 4 years between the first symptoms and the diagnosis!
I’ve recently decided to deepen my knowledge on the field of personalized genetics/genomics as it has an exceptional future in the realm of medicine (and business). And who is the right person to answer my geek questions? Of course, Steven Murphy, MD, the blogger of the Gene Sherpa. He is the Clinical Genetics Fellow at Yale University and is also the founder of a Personalized Medicine practice.
The DNA Network is a FeedBurner network made by Hsien-Hsien Lei of Eye on DNA and Rick Vidal of My Biotech Life. They were very kind and asked me to join this great project. The official description says:
A network (double helix?) composed of life science enthusiasts with specialized views in areas such as genetics, biology, biotechnology, health care, and much more.
I’ve already written about the Times Online article (Daily pill to beat genetic diseases), but I would like to give a clear overview of this “miracle-drug”. The story of PTC124 is not new, it goes back to 2004. Anyway, what is it about?
This presentation is the result of 4 months of work. I know it’s never going to be perfect, but consider it as a first step on the way towards medicine 2.0. On Tuesday, I presented this work to the professors at the Department of Human Genetics of Debrecen. And I thought I should make it public in English. I can’t be grateful enough to Ves Dimov and Bob Coffield, their presentations helped me a lot.
I know I talk too much about web 2.0 and medicine anyway, but I promise I’ll never say a word about web 4.0. Now, I just would like to present a new site which will cover what web 3.0 or the so-called semantic web is about. According to Wikipedia:
Web 2.0 + Medicine = Medicine 2.0. You must have read the BMJ article: How Web 2.0 is changing medicine. I’ve been searching for med 2.0 links for days now, and I hope you’ll like them. Some of them will definitely be known, but some must be new. Let’s start with two studies:
Marie Godfrey has left a comment on one of my posts recently, and asked me whether I’d like to write about her blog and the Genetic Alliance non-profit organization. They both try to make genetics more readable and understandable for laymen and people with genetic conditions. So first, let’s take a deeper look at GeneForum and the Genetizen blog:
Advances in genetics and biotechnology are impacting society in provocative ways. The Genetizen is written by a select group of scientists, bioethicists, and healthcare professionals who provide you with expert analysis and commentary on many important issues.
From now, I plan to write a report every week about the news, announcements, important essays and interesting stories of the project. I would like to give you a clear overview of Wikipedia. I hope you’re going to enjoy the first edition.
What to start with if not this brand new wonderful project: Planet Wikimedia. It’s a blog agregator which collects all the Wikipedia related posts and blogs to make it easier to follow the changes. You can request for inclusion here. This process leads to a peer-reviewed list of feeds. (They’ve added my blog’s wikipedia tag to the list, so this post is also going to show up there.)
There are always some kinds of records that you just can’t believe. These cases are outside the borders of rational thinking. The youngest mother was a 5 year old Peruvian girl. I thought that it’s just an other urban legend, but the images and the sources convinced me. Ok, a five year old girl is not matured enough to give birth to a child. The absence of puberty, menstrual cycle, proper development of the uterus makes it impossible, but:
