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Posts from the ‘Genetic condition’ Category

Reggie Bibbs and the Just Ask Neurofibromatosis Campaign

Fellow Wikipedia editor and friend, Michaël Laurent, has recently asked me to take part in a great project: to interview Reggie Bibbs on his life with neurofibromatosis. I only wrote a short description of the condition, the work was totally done by Michaël and the interview was conducted by Lou Congelio. You should check out the whole story at WikiNews. Here is an excerpt.

Reggie Bibbs is a 42-year-old-man living in Houston, Texas. Mr Bibbs was born with a genetic disease called neurofibromatosis (NF), which causes him to develop tumours on his body. NF can be a subtle disease, but in Bibbs’ case it has left him with a disfigured face. But he is happy with the way he looks, and doesn’t want to change his appearance to please other people. He has launched a succesful campaign entitled “Just Ask”, and that’s just what Wikinews did in a video-interview.

WN: You told me one time about a teacher in school who did something. Tell me about that.

RB: Right, this was in junior-high and I was in special-ed and we would ride the smaller buses. So one day my bus was late and we were there, a group of kids, waiting for the bus. By this time some of the teachers were leaving. And there was one particular teacher that was leaving, and as he passed by he told me, “Wow, where did you get that thing from?” And I was shocked. He said, “Nevermind, I thought you were wearing a mask.” It really hurt me because it was embarrassing and I had some friends with me — and it was a teacher. And I just felt really let down and betrayed because a teacher said this. And after he realized his mistake he never apologized, and that really hurt me.

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The “Just Ask” T-Shirt (Image Credit: WikiNews)

I really believe that the fantastic story of Reggie Bibbs will encourage others to talk about their genetic conditions. It’s crucial to understand them and help them in any ways! Thank you, Reggie! You’re an example!

Gene Genie #19: Geneticalization

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Many thanks to Ricardo Vidal for the logo!

Gene Genie is the blog carnival of genes and gene-related diseases. Our plan is to cover the whole genome before 2082 (it means 14-15 genes every two weeks). But we also accept articles on the news of genomics and personalized genetics. Let’s get ready to the geneticalization:

DNA:


Hsien-Hsien Lei at Eye on DNA tells us that New Line Genetics and SellMyDNA.com Offer $5,000 for Your DNA. Would you sell it?

Nature’s Nascent has a short report about the amazing story of Hugh Rienhoff, his daughter and her DNA.

Misha Angrist at Genomeboy comments the same story in the Don’t try this at home, kids post.

Genes:

Steve Murphy, our Gene Sherpa, expresses his opinion on a new gene in sudden cardiac death.

Ramūnas Janavičius at Cancer-Genetics examines the single nucleotides polymorphisms of the gene SMAD7 which is important in scleroderma as well.

Larry Moran, our favourite professor and author of Sandwalk, has a post about diversity and the major histocompatibility (MHC) loci.

Elaine Warburton at Genetics and Health targets the FOXP2 gene which is believed to play a role in speech and language and wishes Happy Birthday to BRCA2!

PZ Myers at Pharyngula says mutations in the CFTR gene cause Cystic Fibrosis.

Alan Cann at MicrobiologyBytes reports that a variation in two key genes can predict the course of progression to AIDS.

Razib Kahn at Gene Expression has a reference-full article about the Neandertals’ red hair.

Genome Sequencing and Genetic Research:

Strange facts about DNA, genes, genetics and the human genome.

Philippe Campeau at OMMBID Blog shares some articles about neurotransmitter diseases with us.

Ramunas again with Knome | The First Whole-Genome Sequencing Co.

David Hamilton at VentureBeat presents gene-expression diagnostics.

T. Ryan Gregory at Genomicron asks a strange question: Are you a cat genome person or a dog genome person?

The Biotech Weblog had an interesting post about a FISH-based test identifing genetic abnormalities in plasma cell malignancies.

Nautilus talks about an important issue, Opportunities for women in early genetics.

The study of the week award goes to the PredictER blog: Genetic Research: Watson or Spears?

Personalized Genetics:

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Deepak Singh at business|bytes|genes|molecules presents a cautionary note about Your personal health.

Rahul Shetty at Constructive Medicine examines the exact definition of Personal Health Records.

has a fantastic imaginary story.

Elaine Warburton at Genetics and Health raised some concerns: Personalized Medicine leaves public confused.

And on Scienceroll, I continued my series about the best posts of personalized genetics in this weekend’s summary part one and part two.

Let’s finish this edition with an other idiot video, the guy’s name is Gene Gene, the dancing machine (I’m sorry for the bad humour…):

The 20th, jubilee issue of Gene Genie will be hosted by BiteSize Bio on November 18th. Don’t forget to submit your articles via the official page.

And also check out the Gene Genie official blog! If you’d like to host an edition, don’t hesitate to contact me at berci.mesko [at] gmail.com.

New Clues For Down Syndrome?

An excerpt from a recent article at Medical News Today:

Scientists in Portugal and the US have discovered a key mechanism involved in the correct separation of chromosomes during the formation of eggs and sperm. The research about to be published in the journal Current Biology shows that BubR1 a gene recently shown to affect cell division maintains the cohesion of paired chromosomes (until their time to divide) during the production of reproductive cells. Because BubR1 mutations can result in cells with abnormal numbers of chromosomes, the research has potential implications for human disorders resulting from loss or gain of chromosomes such as Down Syndrome, a disease caused by an extra copy of chromosome 21.

As Claudio Sunkel says, “our observations suggest for the first time that inappropriate or reduced function of a gene like BubR1 might be at the heart of age related chromosome imbalance observed in humans“.

In which disorders could this finding be beneficial? Just some examples: Down syndrome, Edwards syndrome, Klinefelter’s syndrome, Patau syndrome, Turner syndrome. So in cases of nondisjunction when the chromosomes cannot segregate properly during meiosis or mitosis. This unproper segregation leads to abnormal numbers of chromosomes. And it can cause conditions like those mentioned above.

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Source

Further reading:

Mendel’s Garden #17: Blog Carnival of Genetics

This time, it’s the honor of Scienceroll to host Mendel’s Garden, the blog carnival totally devoted to all the fields of genetics. I thought I couldn’t find enough articles as most of the bloggers were on their vacation. But I have to share 30(!) blogposts with you and as I would like to make it easier to go through all the submissions, I also present some funny videos on genetics. Enjoy and welcome in Mendel’s Garden!

Let’s listen to music while reading the articles! Mendel-rap?

Plants/animals:

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Evolution:

DNA/Research:

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Human genetics:

I tried to interpret these genetic news and opinions like that, but there are other solutions as well. Which one would you prefer? Maybe this one?

Our September host is going to be Balancing Life. Send your submissions via the official blogcarnival form. Thanks for watching!

Web 2.0 and clinical genetics: in practice

Ramūnas Janavičius at cancer-genetics.com sent me some exceptional links to resources of clinical genetics. Why is it important? Once I wrote that:

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.

Last week, I got a chance to see how our geneticists work at the department of pediatrics. I admire their work, but in special cases, they had to search for syndromes in books! I mean they had to go through it page by page. I always dream about a software (a Diagnosaurus-like gadget) with which we could make it easier for physicians to diagnose a genetic condition. You just enter the symptoms and you get a useful list for differential diagnosis. OMIM (Online Mendelian Inheritance in Man) doesn’t work like that.

So using web 2.0’s features, we can get closer and closer to this dream. The Clinical Genetics Blog uses del.icio.us to tag many resources to make it easier to search for genetic conditions:

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There is also an image collection at Flickr.com.

And the link of the week award goes to the Handbook of Genetic Counseling:

This book is designed as an introduction to the discipline and practice of genetic counseling. The text provides an introduction to genetic counseling as a clinical practice and includes sample counseling outlines and letters for students of genetic counseling. Additional outline and letter examples are highly encouraged.

It is just awesome! If we could merge this collection with the tags and the images into a Diagnosaurus-like software, we could create the best database of clinical genetics. What is your opinion?

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Genetic Testing: BlogMix and a funny video

I’ve been totally busy because of my summer practice at the department of pediatrics. I’ve seen many cases when genetic tests are needed (a strange haemophilia-related case, hereditary spherocytosis, etc.). I thought I should be your aggregator for today, so I tried to collect the most interesting posts on genetic testing, and I also present a new genetic blog. Then after reading all of these, don’t miss the funny video about a parody of a public service announcement on genetic testing.

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Source

Medicine 2.0 means that you can read valuable comments and opinions which are unlikely to be published in a scientific paper. Hsien-Hsien Lei greatly answers common questions about genetic testing.

Steven Murphy, the Gene Sherpa always informs us about new techniques and procedures that make it easier to diagnose (genetic) conditions and to predict risks for diseases. This time, in his article No More Skin Biopsies?, he says, it does demonstrate how ubiquitous genetic soon will be in the office.

Blaine Bettinger, our favourite genetic genealogist, describes the pros and cons of autosomal genetic testing. He says, no autosomal test, now or in the future, will ever be able to completely define a person or a person’s heritage. The solution could be the easy and fast whole genome sequencing. We hope it’s going to be reality soon.

After writing my Awesome Genetic Announcements post, Cicada from bioephemera.com asked me to express my opinion about how we can handle untreatable disorders (such as early-onset Alzheimers, or bipolar disorder) and whether one’s genetic risks could lead to being uninsured and unemployed.

  1. We don’t have to handle those. In a personalized genetic practice, an easy solution could be that the patient chooses from a list that what kind of diseases, conditions, genes they want to know about.
  2. For answering the second question, I just have to show you the winner of the post of the week award: Medical Ethics 2.0 from The Personal Genome. This post will really answer everything regarding medical ethics and insurance problems.

As I’ve promised, here is a new blog on the sky of the genetic blogosphere, Cancer Genetics. Ramūnas Janavičius, a clinical genetics resident doctor from Vilnius University, Lithuania, who is interested in human cancer genetics. He thinks that we help his work, but the truth is that he does a great service for us and the readers for writing about cancer genetics (an awesome topic!). Follow his blog in the future!

At last, let’s have some fun (actually it’s not as funny as you think):

Next time, I’m going to write about my conception on what a personalized genetic practice is like.

Related links:

Towards a World without Genetic Diseases

I always dream about it. I really believe that in the next decades, we’re going to find a cure or at least a proper treatment for all the important genetic conditions/diseases. Until then, people struggling with these disorders have to learn how to handle their problem. First, here is a beautiful example:

Now, let’s see how we can get closer to that dream-world. I know it’s not going to be a patient-based post, but please forgive me this time. Here are 3 major improvements around muscular dystrophies, the first two articles present new diagnostic possibilities, while the third one is about the therapy:

A new genetic test targeting the most common types of muscular dystrophy–those caused by mutations in the dystrophin gene–is far quicker with greater accuracy and sensitivity than existing tests. It can be used to confirm clinical diagnoses, to test female family members who may be carriers, and to perform prenatal testing.

The average human gene consists of 3000 bases, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million bases… Now researchers at Emory university has developed a microarray based test to check for mutations in this gene… Mutations in the dystrophin such as point mutations in a sequence of DNA can result in mistakes in gene expression and non-functional proteins that causes Duchenne muscular dystrophy (DMD).

Antisense-mediated exon skipping is currently one of the most promising therapeutic approaches for Duchenne muscular dystrophy (DMD). Using antisense oligonucleotides (AONs) targeting specific exons the DMD reading frame is restored and partially functional dystrophins are produced.

What is also crucial regarding genetic conditions? To avoid the diagnostic delay (so to diagnose the disorders in time):

The Sun Center of Excellence for Visual Genomics has been working towards using visual data exploration as a means to shed light on the causes of genetics disease.

Recently they developed 4D visualization virtual real atlas of the human body and other organism, with time being the fourth dimension. 4D enables you to virtually view the changes occurring in diseased state or genetically affected individuals and can be used for surgical studies.

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Source: Christoph W. Sensen (via)

Japanese investigators from the RIKEN Research Institute are reporting that they created fluorescent DNA probes that can attach to a specific DNA gene sequence, and detect single nucleotide alterations. The development of such PRODAN-conjugated DNA probes can pave the way for a diagnostic modality to identify single nucleotide polymorphisms (SNPs) responsible for a wide variety of genetic disorders.

And an other interesting essay on an important question: Why a genetic defect present at birth manifests in disease only in later life?

Many innovational diagnostic/therapeutic possibilities. Anyway, I’ve been thinking for a while about a Diagnosaurus-like software for physicians to let them diagnose genetic conditions easier and faster. What do you think? Are you interested in collaborate?

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Related articles:

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