Skip to content

Posts from the ‘Genetic condition’ Category

Gene Genie #41: Carnivalome

Gene Genie is the blog carnival of clinical genetics and personalized medicine. I’ve received more than 25 submissions for this edition which is dedicated to the human genome and videos in clinical genetics.


Many thanks to Ricardo Vidal for the logo!

The molecular level:

Daniel MacArthur at Genetic Future wrote about Genetics of gene expression in African-Americans: ominous news for personal genomics?

Alex Palazzo at The Daily Transcript analyzed 100 years of genetic research.

Greg Laden‘s submission was The Scientific, Political, Social, and Pedagogical Context for the claim that “Race does not exist.”

Larry Moran at Sandwalk talked about Genes and Straw Men

The clinical level:

Chavonne Jones at Human Genetics Disorders shared Muscular Dystrophy Gene Therapy Video:

The Daily Scan informed us about Breaking Cancer’s Gene Code.

Walter Jessen at Highlight Health focused on Potential Location of Autism Genes Identified and Gene Expression Can Predict the Survival of Lymphoma Patients.

The PHG Foundation posted about Helping physicians understand genetic risk and Epilepsy Phenome / Genome Project.

Grace Ibay at Genetics and Health published two interesting articles: Gene therapy research presents hope for sickle cell anemia and The genetic disorder that kept her from dancing.

Chavonne Jones at Human Genetics Disorders also shared a Wilson’s disease video with us:

The personalized genetic level:

The Navigenics Blog said Leading genomic researcher discusses his own test results.

Hsien-Hsien Lei at Eye on DNA unveiled Singapore Company DNA Dynasty Will (Not) Tell Your Children’s Future.

Do you know costs are plummeting for human genome sequencing?

The PredictER Blog focused on genetic privacy.

Daniel MacArthur at Genetic Future featured advice for doctors on dealing with personal genomics customers.

Read more about The Spitterati and Trickle-Down Genomics at the site of Center for Genetics and Society.

Blaine Bettinger at The Genetic Genealogist analyzed Familybuilder that announces DNA Testing.

Now: The rest of the genome (Herald Tribune).

Lygeia Ricciardi at Project HealthDesign asked “Would knowing your genes change how you act?

And don’t miss the Book of Me.

Genetic Testing for Heart Disease:

The President level:

The Genetic Privacy of Presidential Candidates (New England Journal of Medicine):

Using genetic information to disparage opponents has no place in presidential campaigns. Nonetheless, the threat of genetic McCarthyism provides us with an opportunity to engage in a public dialogue about the limitations and complexities of using genomic information for decisions about life and health — including voting for our president.

Gene Screen: Will We Vote Against a Candidate’s DNA? (Wall Street Journal):

“DNA is not an issue in this campaign, but in the next campaign it will be bigger,” says George Annas, a leading authority on bioethics and human rights at Boston University. “It’s coming.”

If you want to host an issue of Gene Genie in 2009, let me know (berci.mesko [at] Don’t forget to submit your articles (berci.mesko [at]

And also check the Gene Genie blog out!

Potential new treatment for cystic fibrosis?

I just found an interesting article at the PHG Foundation about a new potential treatment for cystic fibrosis, a genetic condition affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines. It is caused by a mutation in the CFTR gene. The product of that gene is a a chloride ion channel that plays role in creating digestive juices and mucus. If there is no normal copy of the gene, the person will be affected by CF.

The new drug VX-770 was developed by the Cystic Fibrosis Foundation in collaboration with Vertex Pharmaceuticals; it targets the defective CFTR protein to improve chloride transport. The Cystic Fibrosis Trust supports a group at the University of Bristol in investigating how new drugs restore function to defective CFTR proteins; group leader Dr David Sheppard reported results at the BA Festival of Science indicating that the new drug could cause a near 50% reduction in salt levels in sweat and a 10% improvement in lung function in cystic fibrosis patients. He said: “The early results with VX-770 suggest that drug therapies which target defects at the root of the disease have the potential to improve greatly the quality of life of CF patients”

Here is a video describing the symptoms:

Youtube: Top 10 Videos About Genetic Conditions

We all know how important it is to inform people about genetic conditions. I’ve created several articles and tried to list several sites and resources that could be useful for people with genetic conditions and for their relatives (see below). One of these resources is Youtube where I found some interesting videos focusing on the genetics of medical conditions. Please let me know if you happen to know more.

Further reading:

Newborn Screening for “Bubble Boy Disease”: Interview

On the 1st of January, the state of Wisconsin made a major step in the field of newborn screening. The collaboration of Wisconsin State Laboratory of Hygiene, Children’s Hospital of Wisconsin and the Jeffrey Modell Foundation resulted in screening newborns for Severe Combined Immune Deficiency (SCID). According to the Wikipedia article this is:

…a genetic disorder in which both B and T cells of the adaptive immune system are crippled, due to a defect in one of several possible genes. SCID is a severe form of heritable immunodeficiency. It is also known as the “bubble boy” disease because its victims are extremely vulnerable to infectious diseases.


I’ve already presented The Jeffrey Modell Foundation (headquarters in New York) to you in June. Now, to know more about this medical breakthrough, Dr. Jack Routes from the Children’s Hospital of Wisconsin answered some of my questions:

  • How common is the so-called “Bubble Boy Disease” in the US and in your hospital?

There is no good data on the actual incidence of the disease in the US. It is estimated that at least 1:100,000 newborns have SCID. Our newborn screening program will better ascertain the true incidence of SCID in Wisconsin.

  • Is a blood sample taken from a newborn enough for the screening process?

All newborn screening tests are performed from blood spotted on a newborn screening card—the newborn gets a heel stick and blood is put on a special filter paper on the newborn screening card. A small punch is taken from the filter paper and the SCID screening test is performed.

  • Please tell us some more details of the screening of SCID! How sensitive and predictive is the test?

Please see the article ( J Allergy Clin Immunol. 2005 Feb;115(2):391-8.) for a discussion of the assay. These are the only published data to date. The assay is a real time, quantitative PCR that measures the number of T cell receptor excision circles (TRECs) in the punch from a newborn screening card. TRECs are a surrogate marker for functional, naïve T cells, which will be reduced in most, but not all causes of SCID. Our group has improved the TREC assay (false positive rate is <0.01%) over the results reported in the JACI paper. There is no data on sensitivity and positive predictive value of the test—-this issue will be addressed by the WI SCID screening program.

  • Do you plan to add new medical conditions to the newborn screening program?

Wisconsin constantly evaluates other genetic diseases to add for newborn screening. The WI Newborn Screening Umbrella Committee addresses this issue and I am not a member of this committee and do not know if other tests are being considered in the near future.



I’m thankful to Dr. John Routes for the answers. This is a great example of how to construct a successful newborn screening program. Just to show you the difference, in Hungary, they screen newborns for only 4 (while they screen for 47 in Wisconsin) genetic conditions (galactosaemia, congenital hypothyreosis, biotinidase deficiency and phenylketonuria)

Gene Genie #23: Paradise of Genomics

Is it a paradise? You can decide after going through all the submitted articles. It’s my pleasure to host the newest edition of Gene Genie, the blog carnival of clinical genetics and personalized medicine.

Many thanks to Ricardo Vidal for the logo!

Let’s start with some clinical genetics-related news:

Terra Sigillata talks about the genetics of autism. Don’t forget to check out the comments as well!

Walter Jessen at Highlight Health focuses on the genetics of panic disorder.

I must agree with the opinion of Misha Angrist at Genomeboy: God forbid an Alzheimer’s diagnosis ever bums anyone out.

Elaine Warburton at Genetics and Health shares a new finding with us: Genetic manipulation ‘fixes’ Fragile X syndrome

I’m pretty optimistic as we can see some steps forward in clinical genetics.
We should move on now and focus on the genes!

Ramūnas Janavičius at Cancer-Genetics comes up with a series on breast cancer, the complexity of BRCA genes and COBRA.

Yann Klimentidis features ACTN3 which is an important gene for bodybuiders and powerlifters.

Sandra Porter at Discovering Biology in a Digital World hunts for huntingtin, the gene of Huntington disease.

BabyLab describes p53 & microRNA.


The next section is dedicated to the scientific and other aspects of human genetics:

Larry Moran at Sandwalk features the human genetic variation “Breakthrough”.

Flags and Lollipops dreams about a super-semantic-web-enabled phenotype database.

On Scienceroll, I provided some more tips on how to search for genetic conditions.

Jason Bobe at The Personal Genome is not too happy about the shortage of physician-geneticists in the United States.

And the friends of Simon Greenhill would use mtDNA to predict population size.


The last section belongs to my favourite topic, personalized medicine:

Lygeia Ricciardi at Project Healthdesign presents the Best Practices for Employers Offering PHRs.

Hsien-Hsien Lei at Eye on DNA shares the first personal genome results from 23andMe and deCODEme with us.

Corpus Callosum focuses on a really important subject: Genetic Testing for Antidepressant Medication Response.

Steve Murphy, the gene sherpa, says some words about his genetic company, Helix Health.

Deepak Singh at Business|Bytes|Gene|Molecules writes really deep-minded posts these days, the one I chose now is Your Personal Health: A little warning.

Blaine Bettinger at The Genetic Genealogist points out an interesting service, myDNAchoice – Are Your Surfing Habits the Result of Your Genome?

If you are a regular reader of Scienceroll and have seen some of my past editions, you know what is coming next. Yes, the finish with a funny genetics-related video, a rap about chromosomal mutations:

The 24th issue of Gene Genie will be hosted by Biomarker-driven mental health 2.0 on the 20th of January. 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]

New Tips: How to search for genetic conditions

Last year, I came up with a list containg 10 tips on how to search for genetic conditions. Now, after weeks of tagging and browsing, I’d like to improve that list with some new tips. But this time, I’d like to show you databases dedicated not only to genetic conditions, but gene-disease associations and human genome epidemiology as well.

A global collaboration of individuals & organizations committed to the assessment of the impact of human genome variation on population health & how genetic information can be used to improve health & prevent disease.


It provides access to a continuously updated knowledge base in human genome epidemiology, including information on population prevalence of genetic variants, gene-disease associations, gene-gene and gene- environment interactions, and evaluation of genetic tests.


GAIN is taking the next step in the search to understand the genetic factors influencing risk for complex diseases. Through a series of whole genome association studies, using samples from existing case-control studies of patients with common diseases, GAIN will contribute to the identification of genetic pathways that make us more susceptible to these diseases and thus facilitate discovery of new molecular targets for prevention, diagnosis, and treatment.


It archives and distributes the results of studies that have investigated the interaction of genotype and phenotype. Such studies include genome-wide association studies, medical sequencing, molecular diagnostic assays, as well as association between genotype and non-clinical traits.


A website which assigns molecular functional effects of non-synonymous SNPs based on structure and sequence analysis. You should also check out the Disease-Gene mapping tool.


It will conduct genome wide association studies and analyses in several large NHLBI Cohort studies to identify genes underlying cardiovascular and lung disease and other disorders like osteoporosis and diabetes.

Let’s finish with a great idea, the human disease network published at PNAS.

A network of disorders and disease genes linked by known disorder–gene associations offers a platform to explore in a single graph-theoretic framework all known phenotype and disease gene associations, indicating the common genetic origin of many diseases. Genes associated with similar disorders show both higher likelihood of physical interactions between their products and higher expression profiling similarity for their transcripts, supporting the existence of distinct disease-specific functional modules.

Let me know please if you happen to know more useful databases and tools.

Further reading:

Steps Forward in Clinical Genetics

As I promised I’m here again to keep you up-to-date about the wonderful realm of clinical genetics. While there is a shortage of geneticists in the US and in other parts of the world as well, we can see some improvements regarding certain medical conditions. Let’s start with fragile X syndrome.

Fragile X syndrome is the most common cause of mental retardation. As Wikipedia says:

Mutation of the FMR1 gene leads to the transcriptional silencing of the fragile X-mental retardation protein, FMRP. In normal individuals, FMRP binds and facilitates the translation of a number of essential neuronal RNAs. In fragile X patients, however, these RNAs are not translated into proteins.

Original source: Wikimedia Commons under Free Art License

The researchers of the Picower Institute for Learning and Memory at MIT have reversed symptoms of mental retardation and autism in mice. The FMRP protein binds to the mGR5 receptor on the surface of brain cells. A drug that inhibits the receptor may be useful in treating young Fragile X patients in the future. Check out the great report of Kristina Chew at AutismVox.

Second, FDA approved Kuvan for treatment of phenylketonuria (PKU), an other main cause of mental retardation.

Kuvan works by increasing phenylalanine hydroxylase enzyme activity in PKU patients with some residual PAH enzyme function. This then leads to an increased breakdown (metabolism) of phenylalanine (Phe), resulting in lower levels of Phe in the blood.

And last, but far not least, here is a fantastic article about mutations in breast cancer at Open Medicine. Kelly A Metcalfe and Steven A Narod present a common case and tell us how to help the patients with specific and accurate information or risk. Some weeks ago, Ramunas at Cancer-Genetics shared BOADICEA, a breast and ovarian cancer risk/mutation probability calculation web-application, with us.


And Hsien-Hsien Lei at Eye on DNA presented Opaldia, a genetic testing company that will offer the Diagenic breast cancer blood test in 2008.

The test detects gene expression patterns in peripheral (circulating) blood and is touted as being able to diagnose asymptomatic breast cancer before it can be detected by manual breast exam or mammograms.

Aren’t these announcements fantastic? Or am I too optimistic?


Get every new post delivered to your Inbox.

Join 60,895 other followers

%d bloggers like this: