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iBlog, iBack, iGene January 7, 2009

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

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Comments»

1. Steven Murphy MD - January 7, 2009

Ramunas!!!!!

Welcome back Buddy!!!

-Steve
http://www.thegenesherpa.blogspot.com

2. Mike - March 1, 2009

Just passing by.Btw, you website have great content!

_________________________________
Making Money $150 An Hour

3. Lisa Schoyer - April 22, 2009

Hi,

My name is Lisa Schoyer, and I’m co-chair of a symposium I think you might be interested in: “Genetic Syndromes of the Ras/MAPK Pathway: from Bedside to Bench and Back.” It’ll be in Berkeley this summer.

Children like my son have phenotypical similarities enough to make it hard to diagnose between Noonan (NS), cardiofaciocutaneous (CFC) and Costello (CS) syndromes. (My son died of cancer related to CS). In 2005, the gene find for CS shifted searching for mutations of these phenotypically related children from looking around known mutations (i.e. PTPN11 for NS) to looking for mutations along the Ras/MAPK pathway. CS’s mutations are all on the HRAS gene. (Dr. Bronwyn Kerr, of Manchester, UK, whose specialty is breast cancer, also closely follows CS.) It turns out that another syndrome, Neurofibromatosis type 1 is also on the Ras/MAPK pathway.

With this shift in perspective comes the potential for existing meds that mitigate the effects of these gain-of-function mutations, including farnesyl transferase inhibitors and =yes= lipitor.

Hoping this might interest you – or maybe you already know about our symposium? I assume that if you’re in San Francisco and a geneticist working on breast cancer, that you’re affilliated with UCSF.

Looking forward to communicating with you.

Sincerely,
Lisa Schoyer
Parent of a child with CS
Co-Chair, Ras/MAPK Pathway Symposium

4. Stephen - February 8, 2010

I miss your posting, its genetic things and i love it.


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