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Posts from the ‘Genetic condition’ Category

Gene Genie #7 is up at the Gene Sherpa!

One of the best editions ever has been posted at the Gene Sherpa. The topic is (surprising, right?) personalized genetics. Steve Murphy covered the subject with interesting descriptions and collected about a dozen of submissions.

Still we must never forget the roots of genetics. I am all too aware of the struggle people with metabolic diseases go through every day. We hear about this at Fight Pompe I am not surprised by the struggle to keep up with costs of this horrible disease.

Thank you, Steve for hosting!

Next time, we’re going to Eye on DNA!

Visit the official website of the carnival at and let us know if you plan to host an edition!

Here are all the issues of Gene genie:

News of genetics and some words about genetic education

I’ve recently found some interesting genetic blogposts, articles and sites that can be useful for users seeking genetic information.

Researchers at the University of Illinois have developed a simple and economical technique for imaging and mapping fruit fly chromosomes. This new approach will enable them to construct the first accurate map of the chromosomes and tease out the secrets hidden in their stripes… The new approach will allow scientists to answer fundamental questions about chromosome structure

Steve Murphy talks about personalized medicine and the problems of genetic education:

The solutions? Are tough. I think we need to teach the teachers, we also need to teach the medical students. Physicians have not changed our level of genetics understanding in the last 30 years. That’s why they all think Huntington’s is the prototypical genetic disease. When I tell them that MI is the new prototypical genetic disease they laugh. How can we fix these attitudes? Even psychiatrists agree that genetics is important but they realize the lack of knowledge they have.

Maybe that’s why I try to help in establishing the International Student Network on Genetics Education which could cause a revolution in genetic education. I’m going to write a longer post about this project soon.

  • Your Genes, Your Health

A multimedia guide to several genetic disorders.


A perfect overview of pseudogenes, pseudogenomes, differences in pseudogenes in a well-illustrated article.

So if you still have questions, ask a geneticist as described by Blaine Bettinger.

Do you have a burning question about genetics that’s been keeping you up at night? Ever wonder why the combination of red hair and brown eyes is so rare? There are two great resources currently available online for anyone who is curious about genetics.

World Community Grid: Help Medicine at Home!

Sometimes a good idea and the participation of crowds can make a project fantastic. The World Community Grid has a beautiful mission: to create the largest public computing grid benefiting humanity. I’ve already installed it on my computer and it looks great. The official site says:

Our work is built on the belief that technological innovation combined with visionary scientific research and large-scale volunteerism can change our world for the better. Our success depends on individuals – like you – collectively contributing their unused computer time to this not-for-profit endeavor.


How can you help?

Where can you help?

  • FightAIDS@Home: Each individual computer processes one potential drug molecule and tests how well it would dock with HIV protease, acting as a protease inhibitor.
  • Human Proteome Folding Project: it focuses on human-secreted proteins, with special focus on biomarkers and the proteins on the surface of cells as well as Plasmodium, the organism that causes malaria.
  • Genome Comparison Project: seeks to compare gene sequences of different organisms against each other in order to find similarities between them.
  • Help Cure Muscular Dystrophy Project: investigates protein-protein interactions for 40,000 proteins whose structures are known, with particular focus on those proteins that play a role in neuromuscular diseases. The database of information produced will help researchers design molecules to inhibit or enhance binding of particular macromolecules, hopefully leading to better treatments for muscular dystrophy and other neuromuscular diseases.

Amazing, isn’t it? Some numbers to prove its success.

Members: 293,147

Devices: 621,555

Total Run Time: 89,704 years

Join to help medicine and science! Serve humanity!

Further reading:

Gene Genie: a Famous Blog Carnival’s Sixth Issue

467px-dna_repair.jpgYou may realized that our favourite blog carnival, Gene Genie has been mentioned in the last issue of Cell. So as it became a famous blog carnival with the goal of covering the whole genome before 2082, in the sixth issue, I’m going to mention at least a dozen of posts, articles focusing on genes and gene-related diseases. If you happen to remember the time when I hosted Grand rounds, the weekly blog carnival of the best of the medical blogosphere, you’ll not be astonished by these weird videos of genetics. So let’s get ready to the genes…

My Biotech Life presents a gene called Tbx1 whose inactivation leads to DiGeorge syndrome, a rare congenital disease. He also describes Tbx2/3 transcription factors and their role in embryonic development.

The SciencetificBlogging Team has an article on the genetic aspects of autism. Researchers (University of Iowa) have showed that if a mutation occurs in sperm cells of a father (who doesn’t have autism), it can be passed on to his children.

DNA Direct Talk raised some concerns about the gene discovery for heart disease risk, and made an informative list of facts about Mucolipidosis type IV, a neurodegenerative disorder.

Ok, there are thousands of genes, but what we know about non-coding DNA? Larry Moran at Sandwalk tells us everything of the subject and if you’re there, it’s worth taking a look at the comments. Larry also wrote a well-referenced post on human genes for the pyruvate dehydrogenase complex.

The Afarensis Blog examines this question regarding the Intelligent Design – evolution debate as “when some bit of DNA, thought to be non-coding, looks like it has a function, ID proponents are quick to trumpet this as evidence against evolution”.

If you want to know more about sex chromosomes from an evolutionary point of view, don’t miss Evolgen’s interesting article. Let’s take a break now with a Mendel-rap:

We should continue with clinical genetics and a little bit of fun. Hsien-Hsien Lei has made an interview with Dr. Keith Batchelder, the leader of Genomic Healthcare Strategies, a company focusing on personalized medicine and the intersection of personal genetic information with healthcare.

An amazing case is described by Chris Depelteau at Cool MRI Stuff about the resolution of Chiari malformation after repair. The body is so awesome, isn’t it?

I’m amazed when scientists, physicians present an important issue to the public in a readable and totally understandable style. The genetic genealogist did exactly that by answering some so called “frequently asked questions” about GINA, the Genetic Information Non-Discrimination Act that has recently passed the House of Representatives.

MC at Neurophilosophy introduces a program called Gene2Music which can transcribe any DNA sequence into music. We should make a podcast of the musics generated by all the genes’ sequences mentioned in Gene Genie…

Sorry for including my submission, but this has become a tradition in Gene Genie, so I’d like to share my thoughts with you on PTC124, a new drug against genetic diseases.

And at last, here is the editor’s choice from Control Your Genetic Destiny! The words of Wade Meredith (Kudos!) should be the message of this issue:

Finding out how your helix is stacked is like getting an advanced copy of the test (your health) before the big exam (the rest of your life). If you already know your weaknesses you can fight them head on, instead of trying to play catch-up once your condition is rapidly deteriorating.

I have to say farewell with an other funny video on the magic of genetics with Gregor Mendel. Thank you for watching!

Here are all the issues of Gene genie:

If you’re thinking about hosting an edition, don’t hesitate to contact me at berci.mesko [at]

Update: for more info, please visit!

PTC124, a Drug Against Genetic Diseases: Overview

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?

PTC124 is a novel, orally administered small-molecule compound that targets a particular genetic alteration known as a nonsense mutation. Genetic disorders occur as a consequence of mutations in an individual’s DNA. Nonsense mutations are alterations in the DNA that, when transcribed into mRNA, introduce a premature translation termination codon. This change halts the ribosomal translation process at an earlier site than normal, producing a truncated, non-functional protein.


So PTC124 binds to the ribosome, ignores the nonsense mutation, but doesn’t repair it and make the genetic disease “go away” as it makes it possible for the body to produce the proper protein. Just some examples for genetic diseases caused by nonsense mutation (of the approximately 1800 similar diseases):

As it doesn’t repair the mutation, patients have to take the pill throughout their lives. Here is an image, how it works exactly:


OK, it sounds fantastic, but what about the studies?

You can read more about the phase 2 clinical trials of Duchenne muscular dystrophy and cystic fibrosis as well. The description of phase 2 clinical trials for Duchenne muscular dystrophy says:

The results from this study indicate that PTC124 is well-tolerated and imply pharmacological activity based on preliminary data that suggest increases in dystrophin in muscle biopsies in a number of patients and statistically significant improvements in creatine kinase in blood… several parents and teachers have reported that boys participating in the study have had improvements in terms of greater activity and increased endurance during treatment.

Phase 2 clinical trials for Cystic Fibrosis:

Across the two studies, at both PTC124 dose levels tested, TEPD assessments showed statistically significant improvements of average CFTR-dependent chloride secretion in the airwaysAlthough a formal symptom assessment was not a component of the Phase 2 program, a number of patients described decreased sputum volume and thickness, decreased frequency and severity of coughing and a better sense of well-being during PTC124 therapy.

I have to admit that these results are incredible, look how dystrophin was rebuilt:


It also sounds great, though I think we should be a little skeptic as new therapies are always presented as miracle methods in spite of side effects and non-expected mistakes. Anyway, it might be a really exceptional improvement in the future. I’m eagerly waiting for the results of the next clinical trials. Until then, in case you’re still interested, read more about PTC124:

Related links:

News of genetics: let’s beat genetic diseases!

I’m just back from a poker tournament, and I can’t stop posting the most interesting and promising genetic news and announcements from the recent days:

A pill that can correct a wide range of faulty genes which cause crippling illnesses should be available within three years, promising a revolution in the treatment of thousands of conditions. The drug, known as PTC124, has already had encouraging results in patients with Duchenne muscular dystrophy and cystic fibrosis. The final phase of clinical trials is to begin this year, and it could be licensed as early as 2009.

I must write more about PTC124 and the possible therapeutic possibilities. A great topic.

A new automated test could enable population screening to identify carriers of the gene mutations causing fragile X syndrome (FXS), the most common inherited form of mental retardation.

Currently, there is no cure for Fragile X syndrome, so this population screening would be helpful mainly for genetic counseling.

If you’re a regular reader of this blog, then you know that I am a strong proponent of genetic testing for genealogical purposes. I believe that when used correctly genetic testing can serve as a valuable tool in the genealogist’s toolbox… the skepticism and wariness about genetic genealogy comes from the interpretation of the results.

It seems that I finally found my man… If you’d like to read great comments on the news of genetic testing, don’t miss that blog! He also made a collection of 10 genetic videos. Here is one about Mitochondrial Eve:

And at last, genetic humor… My Biotech Life presents quilts made up of nucleotides. You just have your genome sequenced and Beverly St. Clair makes your own genomic quilt. Here is an example of the patterns and a real quilt of nucleotides.


Hepatitis Virus C gene

The best genetics of the week and a medstudent who loves vagina

Here are the best genetic and clinical genetic blogposts and news of the week with a superb animation about stem cells. Let’s start with two major findings, two hopes for two serious genetic conditions.

Mayo Clinic researchers, along with collaborators from the National Institutes of Health (NIH) and University of Oslo, Norway, have discovered that a miscue of the body’s genetic repair system may cause Huntington’s disease, a fatal condition that affects 30,000 Americans annually by destroying their nervous system.

Using a new type of drug that targets a specific genetic defect, researchers at the University of Pennsylvania School of Medicine, along with colleagues at PTC Therapeutics Inc. and the University of Massachusetts Medical School, have for the first time demonstrated restoration of muscle function in a mouse model of Duchenne’s muscular dystrophy (DMD).

I really believe that these will soon lead to possible therapeutic methods. To restore muscle function of a DMD or BMD (Becker’s muscular dystrophy) patient or to predict the first symptoms of Huntington disease would be miraculous.

  • Macaque Genome Analysis Will Help Find Human Disease Genes

Researchers looking for a disease-causing gene don’t usually find the exact DNA sequence of the gene right away. Instead, they first determine that the gene is somewhere between two easily recognized sequences called markers and zero in from there. In Indian macaques, Hernandez says, those markers can be farther apart, making the search easier. From there, he suggests, the search could be continued with Chinese macaques, using markers closer together. It is often easier to track a gene in a controlled population of laboratory monkeys than in humans, but since the two genomes are so similar, once it is found in the macaque it can usually be located in humans.

Today’s obs and gynae OSCE went really well, much better than yesterday’s disaster so I’m happier now and hopefully more confident. Again it was a very fair exam but this time I feel I just about did myself justice.

Don’t miss the post above created by a 4th year medical student (just like me) !

More stem cell-related animations at Biosingularity.

News of the world of medicine 2.0

After my successful urology exam, let’s take a tour into the realm of web 2.0 an medicine. First, I show you some useful sites, then we’re going to continue with blogposts and finally, a great video about genetic screening.


  • PubMed Reader: a free web-based research program for displaying PubMed / Medline search results on an individual basis. Create your own uptodate Medline and PubMed literature search!
  • YourSciCom: Science 2.0, a completely open research project’s blog.

Genetics for the public

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.


I can’t admire enough the goals like that:

Geneforum strives to promote civic discourse about genetic policy through public education, public engagement, and public consultation. In those roles, we help the general populace learn more about genetic science and the ethical issues emerging from its application. Our aim is to create an informed and engaged citizenry with the capacity to help guide the development of public policies for the common good.

You can find forums about gene doping, geneitic privacy, genetic testing, genetics and pop culture. On the blog, the last comment seems to be 7 weeks old, so visit this blog and keep up with the interesting changes.

My second job today is to present the work and aims of Genetic Alliance. According to an excerpt of their brochure:

Genetic Alliance provide leadership and infrastructure development for more than 600 disease-specific advocacy organizations. This critical work increases funding for research, critical services, strategic partnership, and support for emerging technologies.


How can they help patients with genetic condition? With interactive guides to advocacy, family history resources or the genetic alliance resource repository. Genetics is sometimes associated with negative processes and terms (genetically modified organism, genetic diseases, cloning, etc.). So it’s crucial how we interpret the news and facts of genetics to the public. These blogs and organizations do a fantastic job in that.

Newborn Screening in the US: a mother’s story about how to improve a whole system

Some time ago, in one of my posts I noted that I was looking for a newborn screening specialist. Then I got a letter from a mother of a boy with MCAD (medium chain acyl CoA dehydrogenase defect) from Texas and I had to realize how incredible story she had. Laura Clow who is also a member of website, kindly answered my questions.

  • Please tell us the story of your boy! How was he diagnosed with medium chain acyl CoA dehydrogenase defect?

Brickman was a full-term, seemingly perfect, healthy baby & toddler, hitting every developmental milestone ahead of schedule. When he was 19 months old, he became ill with a stomach virus. He went 18 hours without food because of the illness. He began having seizures and slipped into a coma. The doctors at the E.R. could not determine what was wrong. His lab-work (which took 3 hours to receive) from the hospital revealed that his glucose level was 7 in the blood and 2 in the spinal fluid. When this was discovered, we were in a critical care ambulance in transport to a children’s hospital in Dallas. The paramedic put glucose into his circulation immediately.

He remained in the coma for 15 hours, was in a Pediatric Intensive Care Unit unit for 2 days and stayed in the hospital for 6 more days. Lab tests were sent to Duke University and it was determined that he had MCAD. My husband and I had genetic testing and he has the most common MCAD mutation and I have one that had not been discovered until that time. We then learned that other states in the USA routinely screened for MCAD in the newborn screening panel and that we could have ordered the test for only $25.00 at the time of his birth if we had only known about it. By the grace of God, Brickman did not suffer any long-term consequences from the metabolic crisis.

  • You told me that your family has been very active promoting awareness of supplemental newborn screening. You even went to the state capitol and testified in front of the Health & Human Services Committee. Why did you do that and what are the results?

When I learned that the state lines in which we lived prevented us from knowing about his condition at birth and that we could have paid $25.00 for a supplemental screening test, I was mad, but determined to make a difference for others. I joined two support groups ( and ) and met many families whose children had died or suffered permanent brain damage from undiagnosed metabolic conditions. I did not want another family to have to endure a tragic experience because of lack of proper newborn screening. Educating others about newborn screening became my passion.

I have worked at many trade show booths, baby fairs, spoken to Mom’s groups, midwife groups and doctors to promote awareness of expanded newborn screening. I would stop pregnant women in the grocery store and tell them about it. I also gave supplemental newborn screening kits with a check for $25.00 to many of my friends.

One day, I contacted my State Representative to express concern about lack of proper newborn screening in Texas. About that same time, the March of Dimes was pushing for states to expand newborn screening programs across the USA. We teamed up with the March of Dimes when Texas was considering expansion of their program in April of 2005. We traveled to the State Capitol and testified in front of the Health & Human Services Committee. There were several other affected Texas families there as well. The proposals passed the House and the Senate, but the expanded screening did not actually begin until December 2006. Texas now screens newborns for 27 inherited disorders – 19 more than before.



  • What are your plans for the near future?

Great Question! I wish I knew the answer! I am looking for a job for the fall because my youngest child will start Kindergarten. I was an elementary school teacher before I had children, and I would like to teach again or work in the field of expanded newborn screening.

The Save Babies Through Screening Foundation is a non-profit, volunteer-run foundation which exists to promote awareness and educate others about expanded newborn screening. The website has many links to the 50 USA state newborn screening programs, information about how to obtain a supplemental screening kit, family stories and more. They also have an email list where families can seek support from others and share information.

I’m totally amazed by the work and enthusiasm of Laura Clow. It became true that mothers like her can improve even a whole system.




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