hit tracker
Physical Sciences Earth Sciences Biology Front Page Medicine Neurosciences Culture

User login

Columnists

Banner

ScienceRoll

10 Tips: how to search for genetic conditions

Clinical Genetics

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!

Look, we can’t expect physicians (from any kind of medical specialties) to know everything about all the cc. 4000 genetic conditions. But we can help them how to find relevant information and quickly understandable material on genetic conditions.

I know that there are hundreds of great resources on the net, but here are my 10 tips, my 10 favourite sites:

1. Online Mendelian Inheritance in Man (17 706 entries)

Personalized Genetics/Genomics: Interview with Steven Murphy, MD

Clinical Genetics

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: the best idea of the last months

Medicine

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:

PTC124, a Drug Against Genetic Diseases: Overview

Clinical Genetics

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?

Genetics and Web 2.0: the presentation

Clinical Genetics


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.

Web 3.0 and medicine

Medicine

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:

Medicine 2.0 Link Festival

Medicine

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:

Genetics for the public

Clinical Genetics

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:

Wikipedia report: news, announcements and interesting stories about the project

Technology

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.

The Youngest Mother Ever

Medicine

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:

MedWatch: genes, genes, genes

Clinical Genetics
Before publishing the first issue of Gene Genie, a blog carnival on genes, I list here the most interesting announcements and findings on genes from the past day.

The Broad Institute, Lund University and Novartis have announced the completion of a genome-wide map of genes related to type 2 diabetes and other metabolic disorders. (Read more at the Diabetes Genetics Initiative database)

Submissions for Gene Genie

Clinical Genetics

Submissions are still welcome. It’s going to be the first issue of this project, so I need many many articles to be submitted.

Based on Timothy Erickson’s thoughts, I decided to start a new blog carnival on genes and gene-related diseases. Our plan is to cover the whole genome before 2082 (it means 14-15 genes every two weeks).

Open access and the future of medical journalism

Medicine

Recently, I’ve found several blogposts and papers writing about the future of medical journalism, the problem of open access. I’d like to spread the word about a new system in medical journalism where the scientific community decides about the fate of a submitted article. First, some words about the impact factor. Sciencesque had an interesing post about how impact factor is calculated and why we should follow the newly proposed system of PLos One.

Medical fun again

Medicine

After the hard days of the Week of Science, here are some funny and interesting links, sites. You should take a break with these before I start to write serious, gene-maniac posts again. And let's submit your articles, Gene Genie is dute to be published in 5 days!

chr1-d.png
This picture shows details of chromosome 1. The green points represent adenine, the red thymine, the white guanine and the blue cytosine.

The Week of Science: Summary

Medicine

This is the last day of the Week of Science, a challenge on justscience.net to write at least one scientific, referenced article per day. Generally, it was a good idea, but the categories became unreadable and uncontrolled after the first days. And it’s going to be held only one time a year.

Thank you, Razib at Gene Expression for working so hard on the idea! Here are my articles made for the Week of Science (7 articles for 7 days):

And my favourite posts made by other challengers:

SocialMD - Social Network for Physicians

Medicine

I’d like to present a great web 2.0 based site with plenty of features made for physicians and medical students.

SocialMD utilizes the power of the network to benefit all the members of the network. With SocialMD you can:

  • Network better with physicians and students/residents
  • Read multiple blogs by physicians, students and residents in a fast and effective way
  • Read the latest medical news from various news sources
  • Find Study Partners for USMLE
  • Use the SocialMD Search Engine optimized for searching USMLE and residency related information.
  • Buy and sell books and other study material
  • Find residents and fellows from the Programs you are interested in
  • Find observership positions

Scienceroll is among the medical students’ blogs. Take a look at it and also add your blog. Let’s build an exceptional medical community!

New Canadian screening guidelines for pregnant women

Clinical Genetics

For women older than 35, amniocentesis is usually recommended. But the Society of Obstetricians and Gynaecologists of Canada (SOGC) is now presenting a new guideline system:

All women should have access to blood tests and ultrasounds and that the results of such measures should guide the decision for more invasive screening, such as amniocentesis.

preg.png

A public photo from Flickr

Pompe disease, a rare but important genetic condition

Clinical Genetics

As I plan to become a clinical geneticist, I should write more often about genetic conditions. But I don't want to duplicate the articles of Wikipedia, my aim is to provide useful sources of information. Pompe disease is a rare disorder caused by the deficiency of the acid alpha-glucosidase enzyme. It's inherited in an autosomal recessive manner. The patients can't break down glycogen. According to the Wiki article:

It is the only glycogen storage disease with a defect in lysosomal metabolism, and was the first glycogen storage disease to be identified—in 1932. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver and nervous system.

New Blog Carnival: Gene Genie

Medicine

Based on Timothy Erickson's thoughts, I decided to start a new blog carnival on genes and gene-related diseases. Our plan is to cover the whole genome before 2082 (it means 14-15 genes every two weeks).

Please take a look at the "official" page of the carnival. (Suggestions are most welcome!)

The first issue will be hosted by Scienceroll on the 17th of February. The second will be hosted by Sciencesque two weeks later. Let me know if you would like to host one!

Bye Bye, Sonic Hedgehog

Research

sonichedgehog.jpgI planned to make a good start for Gene Genie but my first gene related post is about a farewell. Sonic Hedgehog, one of the most famous genes, will lose his name. According to the Discover article:

Syndicate content

Category Feeds

Science Jobs

Books By Writers Here

Internships

We do offer unpaid internships in programming and science journalism to college students or recent graduates seeking to build up their portfolios.

Development interns will need to be proficient in PHP and CSS and provide samples of work done in a multi-user environment platform and sign a non-disclosure agreement.

Science journalists will need to provide samples from a university newspaper or professional publication and list which semester they want to work.

Please use the contact info available in the footer of the page.