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Archive for May, 2007

10 Tips for How to Acquire a Disease

I’m an admirer of Wade Meredith’s writings at Healthbolt.net and after reading his post on How to Give Yourself Diabetes, I realized that sarcasm makes it easier to reach people with important messages.

Now, I’d like to provide a list of tips not just how to get sick, but how to get even a serious disease.

1. Forget about sport! 30 minutes of walking takes too much time, and we can’t do exercises 5-6 times a week. Physically inactive people are more likely to die early, to experience major illnesses such as heart disease, diabetes and to get banal infections. So enjoy your favourite armchair and watch the TV!

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2. Get fat! If your body mass index (kg/m2) is at least equal to or more than 25, then you’re on the right way towards cardiovascular diseases, diabetes, musculoskeletal disorders and some cancers (endometrial, breast, and colon). 1.6 million people can’t be wrong!

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3. Drink alcohol! There are about 2 billion people worldwide who consume alcoholic beverages and 76.3 million with diagnosable alcohol use disorders. These numbers are still too low, please help improving them! Drink, drink and you can get closer to oesophageal cancer, liver cancer, cirrhosis of the liver, homicide, epileptic seizures and motor vehicle accidents.

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4. Smoke! Some cigarettes a day, and you can send the doctor away. The list of the possible effects of smoking is so exciting: cancers of the bladder, oral cavity, pharynx, larynx (voice box), esophagus, cervix, kidney, lung, pancreas, and stomach. I nearly forgot about cardiovascular diseases and chronic obstructive pulmonary disease (the fourth leading cause of death in the USA).

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5. Sunbathe! Chronic exposure to UV radiation causes erythema, sunburn or even melanoma, one of the deadliest diseases of the world. Try it! An easy and cheap method to suffer.

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6. Use more salt! More than 5 g salt a day and you don’t have to worry about high blood pressure. “It has been calculated that a 3g reduction in salt intake in the adult population would lead to a 22% reduction in stroke and a 16% reduction in chronic heart disease.” It means that a daily 15 g salt intake would lead to serious results…

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7. Stay stressed! Is your work boring? Are you in a middle of a traffic jam? Try to stay tensed as the stress ulcus is the best friend of the stomach. The pain, the bleeding and the acid in your oesophagus shouldn’t make you interested. Oh, and depression, burnout syndrome are also in the packet.

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8. Don’t wash yourself! Improper hygiene can lead to problems like dental caries, fungal infections, parasites and it’s even helpful in transmitting HPV (keyplayer in the cancer of the cervix) and other sexually transmitted infections.

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9. Inherit bad genes! You obviously can’t control it. But if you would at least take a deeper look at your family history, you could try to prevent some kind of diseases (e.g.: gout or diabetes type II. with proper diet). So forget about it! Don’t let enthusiastic geneticists force you to think differently!

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10. Be creative! Travel to tropical countries (for malaria, tuberculosis and other hot diseases); don’t care about ticks (Lyme disease); do not eat vegetables and fruits (for colon cancer); work in a polluted place and especially think negative! It will definitely help.

I can write hundreds of posts here about web 2.0 and medicine (medicine 2.0, if you happen not to know about it) or genetic testing. But medicine starts at home. In many areas of medicine, we can’t control anything so at least we should take care about what we can take care about.

You can’t control the car rushing towards you without brake, but at least you can move two steps backward.

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You have a genetic article? Submit it to Gene Genie!

Our favourite genetic blog carnival, Gene Genie is flying to Eye on DNA as Hsien-Hsien Lei is going to host the next edition this Sunday.

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Don’t forget to send your best gene, genetic condition or genomics-related articles, posts in time.

You can send your submissions here.

All the editions:

Grand rounds is up at Medskool

Grand rounds, the weekly blog carnival of the best of the medical blogosphere is up at Medskool and Colin has made a great job! Scienceroll has been mentioned:

I never knew there were so many online resources on genetic diseases. Bertalan has laid out a beautiful collection of them over at Science Roll. It really is an impressive set of websites.

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Here is my selection of the submitted articles:

Kudos to Dr. Nicholas Genes for maintaining this whole project!

Genetic Breakthroughs for Today

Three announcements that could have a big impact on genetic testing:

Scientists have developed a new technique to identify genes that increase the chance of women developing breast cancer. They hope it will lead to a single blood test which would reveal a woman’s risk of getting the disease.

Scientists found two genes responsible for breast cancer two years ago. But now new research led by Cancer Research UK’s Cambridge Research Institute, published in the Nature journal, has found five more.

The Swedish National Board of Health and Welfare has approved the highly-controversial procedure for three families whose children risk dying unless they receive a transplant of healthy stem cells from a sibling with a tissue match.

But for the first time authorities will allow the embryos to be screened to find a tissue match for a sick sibling, in a process called human leukocyte antigen testing (HLA).

Prize4Life — an X-PRIZE-style competition intended to stimulate innovation and produce tangible results in ALS (Amyotrophic Lateral Sclerosis) research — recently awarded its first prizes: Five researchers each received $15,000 to develop a biomarker for tracking the progression of ALS, a fatal disease.

Such a biomarker would enable scientists to test for ALS before the visible onset of symptoms, similar to markers in the blood of AIDS patients.

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Hsien at Eye on DNA and Steven at The genes Sherpa will probably post their comments on these findings.

My posts on the same subjects from before:

10 Tips: how to search for genetic conditions

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)

This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere, and developed for the World Wide Web by NCBI, the National Center for Biotechnology Information.

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2. Single Gene Disorders and Disability at Centers for Disease Control and Prevention

Single gene disorders (SGDs) are a group of conditions caused by a change (mutation) in one particular gene. There are over 6,000 SGDs and although these disorders are rare individually, when grouped together they account for about 1 in 300 births.

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3. Specific Genetic disorders at National Human Genome Research Institute

Sometimes, physicians are unable to put a name to a genetic condition. When this happens, physicians will say that a child or an adult has an undiagnosed rare or genetic condition. To learn more about how to deal with genetic or rare conditions that have no diagnosis, see this list.

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4. List of genetic disorders at Wikipedia

The following is a list of genetic disorders and their origins. Beside most disorders is a code that indicates the type of fertilization and the chromosome involved.

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5. GeneReviews (392 entries)

GeneReviews are expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.

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6. Ask the Geneticist

Selected questions and answers are posted within 3 weeks. The confidentiality of all visitors to this site is respected according to the HIPAA Privacy Rule and Georgia and Alabama State law.

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7. National Organization for Rare Disorders

Many libraries, schools, universities, and hospitals subscribe to NORD’s Rare Disease Database for unlimited access to reports on more than 1,150 diseases.

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8. Center for Inherited Disease Research

A centralized facility that provides genotyping and statistical genetics services for investigators seeking to identify genes that contribute to human disease. CIDR concentrates primarily on multifactorial hereditary disease although analysis of single gene disorders can also be accommodated.

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9. Open Directory Project: Genetic Disorders

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10. The best: OrphaNet

ORPHANET aims to improve management and treatment of genetic, auto-immune or infectious rare diseases, rare cancers, or not yet classified rare diseases.

The database contains 2000 diseases in 6 languages written by experts. More than 800 daily updates, 25 collaborate databases, 20,000 connections a day with a total budget of 1.3 million Euros. 20,000 daily users from 150 countries.

Alexa statistics of OrphaNet and Rarediseases.org:

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For many more lists of resources, please see the Disorder Guide or the rarediseases.info page.

Regarding my list, I hope you find at least some of the links useful. And I also hope that physicians could use these resources to know more about rare, genetic conditions and we can forget about the evil diagnostic delay in the near future.

Genetics has a new profession

I’ve recently found an interesting site, the geneticcounselor.net that tries to describe this great profession via news, links and articles.

Genetic counselors are health professionals who are trained to help families understand genetic disorders and to provide information and support to those families. They may also serve as patient advocates by referring individuals or families to local services that can be of assistance. To help understand the genetic counselors mission, let’s have a quick look at how genetic counselors relate to those not yet born

The best way to inform the public about genetics and prenatal testing is to talk to them directly.

A video on prenatal testing:

Direct-to-consumer (DTC) Commercial and Counseling Session:

Further reading:

Update: Don’t miss Steve Murphy’s reaction about National Society of Genetic Counselors.

Ion Channel Media Group: a place for scientists

I’d like to present a scientific aggregator that provides dozens of portals focusing on the many subbranches of science:

Ion Channel Media Group controls many biotechnology web properties. The material offered by these sites attracts a high caliber of visitor. The scientist rankings, recent literature, job offers, and laboratory directory is of little interest to the general public, so you can be sure that serious scientists and business people will be your main audience.

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Just take an example, what can you find in the bioinformatics portal:

  • Recent High Impact Publications
  • Top Ranked Bioinformatics Scientists
  • Advance Publications Compiled By SciFeeds
  • Recent Bioinformatics News
  • Recent Bioinformatics Jobs
  • Top-Rated Bioinformatics Links

Here are the genetics-related portals:

BlogMix: the best posts of the week

Every Saturday from now, I’m going to collect all the best posts of the medical and genetic blogosphere. In this first issue, I focus on personalized genetics and web 2.0 (it’s a surprise, isn’t it?).

The Genetic Genealogist produced a fantastic series of posts about the $1000 genome:

Kudos to Blaine Bettinger!

Then don’t miss A thesaurus, wikis and text mining post at business|bytes|genes|molecules.

The goal of the project is to discover relationships and associations and eventually therapeutic mechanisms. The hope is to bring as many as 20,000 bioinformaticians and researchers into the project. From where I stand, just limiting the proposal to a relationship-oriented wiki might be too narrow.

LifeHack provides a list of the features of del.icio.us.

The community of del.icio.us allows you to find some of the best resources on the Internet without having to trudge through all of the junk.

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And two writings of Walter at HighlightHealth.com:

At last, my interview with Steven Murphy has been published at Reuters! :)

That’s why I’m proud to be a member at ScientificBlogging.com!

See you next Saturday with BlogMix…

Genetic Wikis

I hope that David Rothman will like this little list of genetic wikis. The first three wikis are from Wetpaint, where you can create your own wiki. I’ve learnt about it at Medical 2.0.

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Wikimedia projects:

And some others from different subjects:

And at last, have you ever heard about the Gene Wiki? According to a document found at The Synaptic Leap:

The Gene Wiki is a genomics community-based, collaborative, workflow first envisioned by Marc A. Marti-Renom, head of the structural Genomics Unit at the Prince Felipe Research Center in Valencia Spain. The aim of the Gene Wiki is to tap into the collective intelligence of the science community to:

  • More thoroughly aggregate distributed genomics knowledge,
  • to help prioritize research projects for genomic-driven drug development, and
  • to mobilize distributed scientific resources based on the prioritization of a knowledgeable community.

Here is a video of Marti-Remon talking about making genomic data open and available for everyone (at Google TechTalks April 07, 2006):

Further reading:

Health Camp: 26th of May

Tomorrow, Health Camp is going to take place in Palo Alto, California. What is that? An open space for the health2.0 community to find and share with each other.

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6 Silicon Valley Health2.0 startups will give short 5 minute presentations followed by 5 minutes of Q&A:

I hope that many health 2.0 bloggers will tell us about the new announcements and ideas.

Further reading:

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