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Bloggers-Wikians meeting during ESHG 2011 May 26, 2011

Posted by ramunas in media, personal.

For all those “dna-wiki-blogs” savvy folks, who will be apparently visiting European Society of Human Genetics (ESHG) annual meeting from this saturday in Amsterdam, the Netherlands, and get to the opening welcome reception at Amsterdam RAI on Saturday, 28th, 20 p.m., this DNA-shadowy man (bellow) on the one of the table should guide to the proper location, where Mike (from SNPedia.org and I will held an informal meeting of <bloggers>, [wiki’ans] etc 🙂 See you there! (amplificate this)


iBlog, iBack, iGene January 7, 2009

Posted by ramunas in cancer genetics, familial cancer, genetic testing, hereditary cancer, personal, research.

I am back. 2008 were quite important for me – graduated clinical genetics and virtually shifted from traditional-pediatrics based genetics and focused solely to cancer and adult onset disease, also half-sunk in molecular lab – working in best equipped lab with cool people is great. This month will try to handle pyrosequencing and Illumina genotyping, wow.

And defented my long-rolled PhD in tumor cell kinetics and T regulatory cells (enjoy the power of Open Access).

Do you know that 4154delA mutation of BRCA1 gene seems to originated in the Eastern Baltic Sea region of the Northern Europe? Read my and colleagues articles.

Research is the best way to find new health improving strategies. Such example could be  CIMBA –  “Consortium of Investigators of Modifiers of BRCA1/2″) – an international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers. The goal is to find SNPs which could be important in modifing BRCA mutation effects and thus important in clinic for correct genetic risk stratification. A newly formed Baltic Familial Breast Ovarian Cancer Consortium (BFBOCC) currently is activelly recruiting patients from Lithuania and Latvia for the involvement in CIMBA (contact person for LT – me).

Spare time (hm, a night:) is a good for website developing – www.genetika.lt – is my new website in constant progress in lithuanian language to help translate cancer genetics in understandable manner for patients and doctors. This lovely header is creation of this weekend with the genuine help of Gimp buddy:

Von Hippel-Lindau (VHL) disease – a rare tumor predisposing disorder, where targeted surveillance and early diagnostics is crucial for the improved patients survival – is no longer an  “incognito” in my country – developed genetic testing and counseling service will help for these families to get the best from current medical practice. More about VHL.

And for 2009 several new genetic testing are scheduled to come – Familial Adenomatous Polyposis, Multiple Endocrine Neoplasia syndrome (type I and II), Neurofibromatosis type II and Li-Fraumeni syndrome – developing National Hereditary Childhood Cancer Research Platform.

Thats for now – greetings from Vilnius, European Capital of Culture 2009.

SNPedia, bioinformatics and Frank Zappa in Vilnius July 12, 2008

Posted by ramunas in personal.

This week I was really happy to meet the founder of SNPedia Mike Cariaso. And not virtually, but in reality in my native city Vilnius, where a bioinformatics EuroPhyton conference was held. Some walk in the old town and beer was great. And there was even famous Hans Rosling talk in this conference! (what a pity, I didn’t manage to listen to it, but it was pretty much the same he had at TED conference:

If you do not know what is SNPedia – it is collaborative aggregation of information about genetic variation, inspired by the personal need to understand own variation (Mike has done own SNP scan on two platforms).

This website shares information about the effects of variations in your DNA, citing peer-reviewed scientific publications. Great stream from Bethesda, MD, just opposite National Health Institute:)

And there is something unique in Vilnius, a blend of American (unnoficial) culture – the monument of Frank Zappa – the only such kind of monument for rock musician in a world.

Zappa’s death from prostate cancer in 1993 hit photographer Saulius Paukštys and fellow devotees hard and in a flash of inspiration they managed to erect a lasting memorial to this truly libertarian person.

MD, finaly… June 27, 2008

Posted by ramunas in personal.

Apologize for such long silence – was finishing my residency. And it is done – already received MD (clinical genetics). Now searching for the best way to practically realize my interest in familial cancer genetics – and to set up service which is virtually non existent in Lithuania.  Hopefully, July will bring what I wish and move to a new working place, which will be more creative and simply better.

SimpleGenetics(TM) for DNA day April 25, 2008

Posted by ramunas in genetic testing, media, personal, Simple Genetics.

Happy DNA day! This year in Europe we celebrate it for the first time officially. What a coincidence – yeasterday I’ve received gene T-shirt with mapped 1st chromosome from the magazine Science – wearing it all this day:)

On this occasion I would like to introduce you to SimpleGenetics(TM) genetic test reviews – it could be an independent wiki-based resource dedicated to the provision of reviews and unbiased information about commonly available genetic tests, its clinical validity and utility.

The project aims to improve the quality and accessibility of information regarding genetic tests and help to make informed choice decision for physicians and/or patients.

The information would be reviewed and edited by registered clinicians or scientists working in clinical genetic settings.

There is a preference for objective, scientific evidence-based, comprehensive reviews of clinical evidence and appreciate contribution of both genetic testing companies, clinicians and users to satisfy these goals.

I made this draft in February, and there is some information about Mammaprint available already. Let me know what you think about it and future involvement/contribution/etc. possibility.

Check out at SimpleGenetics.com

Let’s go to Spain and Happy Earth Day! April 22, 2008

Posted by ramunas in cancer genetics, media, personal.
1 comment so far

I beg a big pardon for not writing so long – it could lasts till the middle of June, till my final residency (at last) exams – now I’m deep in Emerys&Rimoins Medical Genetics, LDDB, Possum databases etc. Afterwards I hope to concentrate (and work) on my favourite topic – cancer genetics – again.

Before that, I’ll go to Spain – and be in Barcelona during Conference of European Society of Human Genetics (May 31-June 3) and then move to Madrid – to attend biannual Familial Cancer conference (June 5-6, a very good event – thanks organizers for fellowships). If somebody happened to be there – that would be really nice to meet you indeed! (will present my posters in Cancer Genetics section). Also, good ideas where to stay in Barcelona or Madrid are more than welcome 🙂

Happy Earth Day, BTW! And be aware about links of chemical cocktails to cancer.

p.s. recently there was a techy conference about blog’s in my city, and was pleased to have an opportunity to have short talk. Not about genetics or medicine, but green blogs – like Worldchanging, Treehugger and Ekoblogas – a bunch of blogs which I also like to read:

Looking to the cancer genetics future | ICG-FBOC meeting February 20, 2008

Posted by ramunas in breast cancer, cancer genetics, familial cancer, genetic testing, hereditary cancer, media, ovarian cancer, personal.
1 comment so far

Next week I’m going to International Collaborative Group on Familial Breast and Ovarian Cancer (ICG-FBOC) meeting (9th symposium) named “Looking to the future cancer diagnostics & treatment: the impact of genetics in Cyprus (Κύπρος), Larnaka (Λάρνακα). There is going to be an extensive programme with the presentations of well known researchers from UK (Manchester, London), Norway and Greece. I look really forward to meeting these people and listen to their presentations.

If anyone of my readers are going to be there – please drop me a note – that will be nice to meet you there.

Dangers of Gene Patents | American College of Pathologists November 10, 2007

Posted by ramunas in cancer genetics, genetic testing, media, personal.
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Currently over 20% of 25-30000 human genes are patented most of which do not have yet exact function defined. Even more yet are under the way. Research and identification of a new genes predisposing to the cancer, which affects 1 in 4 person in the population, is of high priority worldwide.

Patents for low/medium penetrance susceptibility genes and sequence variants which can serve as genetical markers of all cancers as well as commercialization of common methods for a common germline mutation detections in particular human cancer genes could seriously suspend the wide public availability of such tests, especially in a developing and limited resources countries where current health care system is bellow good quality standards and further make inequalities in the health care service.

This is an excerpt of my opinion, which I’ve published a year ago on BioForgeNet, an open source biological community portal.

This year on Oct. 30 American College of Pathologists submitted a statement Oct. 30 to the U.S. House of Representatives Judiciary Committee s Subcommittee on Courts, the
Internet and Intellectual Property, stressing that current practices in the patenting and licensing of genetic sequences must be reexamined to ensure that gene-based diagnostic tests are widely available and affordable for the greatest public benefit.
The statement, provided for a hearing titled Stifling or Stimulating The Role of Gene Patents In Research and Genetic Testing, outlined the impact of gene patents on medicine and healthcare and urged support for recently introduced legislation that would prohibit patents from being obtained that would harm patient access, quality of care and training of health providers.
According to the College s statement, when patents are granted, subsequent exclusive license agreements, excessive licensing fees, and other restrictive licensing conditions prevent physicians and laboratories from providing genetic-based clinical testing services.
Consequently, it continues, patient access to care is limited, quality of patient care is jeopardized, clinical observations as the basis for new discoveries are compromised, and training of health care providers is restricted.
The Frist Ganske Law protects physicians from patent infringementlawsuits, but does not extend the same protection to laboratory personnel. The College supports efforts to amend Frist Ganske to provide this protection to pathologists and other laboratory.
The Genomic Research and Accessibility Act, H.R. 977 would prohibit patents from being obtained for a nucleotide sequence, or its functions or correlations, or the naturally occurring products it specifies.
The College declared its support for H.R. 977, and will continue to work with lawmakers on recommendations for legislation that would prevent intellectual copyright protections from limiting laboratory physicians access to genetic information and impeding potential breakthroughs in genomic and proteomic research.

Feel free to express your opinion in a comment field.

Thanks November 1, 2007

Posted by ramunas in personal.

Thank you Hsien @ EyeOnDNA for Venter’s book! I will be happy to read it.

P.S. Meanwhile, do not forget to visit the websites of my proud “sponsors” at NicoMarket and SellMyDNA (from New Line Genetics) 🙂

(Learn more here and there).

Knome | The First Whole-Genome Sequencing Co. October 31, 2007

Posted by ramunas in personal.

I’ve read a short review in Nature summarizing personal genomics companies, like 23andme.com and navigenics.com. Surprisingly, a third – Knome – based in Cambridge, MA, came to my attention:

We are the first firm to offer individuals the opportunity to have their entire personal genome sequenced. Using the latest advances in whole-genome sequencing, we will sequence your genome and will provide you with a comprehensive and detailed analysis of the results under the direction of a leading geneticist. Further, our proprietary genome management platform will enable you to retain complete control over your private genomic information.

Well, its not genotyping (as other 2 offers), but sequencing of whole genome.

In addition to being amongst the first individuals in history to be fully sequenced (a group that, to date, includes only James Watson, co-discoverer of DNA, and Craig Venter, one of the pioneers who first sequenced the human genome), you will be able, for the first time, to use detailed knowledge of your own genetic information to make decisions that can significantly enhance your lifestyle, health and medical care. Once your entire genome has been sequenced, you can stay current on future genetic discoveries without having to take additional tests. Beyond health-related applications, your sequenced genome can provide insights into your own ancestry and genealogy.

Wanna stand near Watson and Venter? Do it at Knome 🙂

We are selecting a limited number of individuals to participate in our initial launch phase. If you are interested in purchasing a private copy of your personal genome, please contact us. Due to the significant costs associated with our services, we reserve the right to refuse access at our complete and sole discretion.

Hsien, I think that have some similarities with immaginatory SellMyDna.com services, but real. Bercy, hurry up to sign in! 🙂