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Barbara you are my nemesis

The former nature genetics editor has been recently here in Munich giving a talk on Open Access. Chatting after her talk, she told us that on another occasion a guy was yelling at her “you are my nemesis” because she once declined to publish his paper. We laughed but there is some serious background – journals editors often decide on careers of young people.
From my recent experience Continue reading Barbara you are my nemesis

Monorail

X chromosomal inactivation is difficult enough to understand – there are now some more data on autosomal monoallelic expression (editorial & paper). Up to 10% of 4,000 genes in clonal cell lines were found to be monoallelic expressed (and up to 20% in some B cell clones). Only odorant and T cell receptors are selectively expressed while all other genes are thought to be randomly silenced.
I wonder how any transmission disequilibrium test makes sense if a variant is only transmitted to a silent chromosome? Possibly there are also epigenetic feedback loops where proteins can remodel chromatin and induce epigenetic marks ultimately silencing a chromosomal region. In any case, a fundamental paper, yea, yea!

Personal digital right management

is a serious issue as personal data in the internet grow exponentially. I have just recently completed a paper on informed consent in medical studies but think now it will not go far enough. In accordance with recent proposals at the Internet Governance Forum of the United Nations we might need a system that allows a personal digital right management where a server runs a checksum or does a reverse lookup before transmitting personal data – otherwise data tranfer should be aborted. See more at the EU funded project PRIME – I fear that people will no more participate in our studies if we can´t guarantee them confidentiality.

Finally the ß2 receptor

The full crystal structure of the ß2 receptor is now clear after many attempts for its low natural abundance – with the extracellular domain still difficult to resolve (more on the relevance of the mutations depicted in Fig.1 in my recent Lancet editorial). Interesting: the effects of mutations on distant sites by breaking off van der Waals interactions like I135 that disrupt a ionic lock simply by a more loosely packed molecule.

First 25OH-D3 GWA online

The first genomewide association for vitamin D serum levels is already online as the Framingham people told me earlier this day, many thanks!

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There are 3 important regions on the above figure figure: around rs1394615, rs1877165 and rs2160595, see also the attached excel sheet fram25ohdexam6or7agesexadj.xls.

What are the reasons that my linkage study arrived at completely different regions? The accompanying BMC Genetics paper even highlights 2 different SNPs: rs1048516 + rs10507577). Anyway, the best region in my opinion is on chromosome 6. Here are the significant SNPs in relation to their neighboring genes: Continue reading First 25OH-D3 GWA online

My first scientific meeting

was in 1986 at the German Society of Endocrinology in Lübeck. I just scanned these old B&W films but can’t renember so many details. My results were only published under pseudonym as my clinical advisor (#3 from left) did not renember my name correctly when publishing it in Acta endocrinologica.

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Caecus sed lucidus

“Blind but enlightened”, a motto at the Nikolauspflege impressed me as a child when my parents visited the former director of this academy in Stuttgart.
There are so many examples where the norm isn´t the norm – think also of Paul Wittgenstein, the one-handed pianist, who lost his right arm but approached many composers to write him sheet music: Benjamin Britten, Paul Hindemith, Richard Strauss, Maurice Ravel, Sergej Prokofjew among others.

Dr. rer. photocop.

This is an old saying among medical students – you get your degree by copying a lot of papers.
When it comes to copy music I learned only recently that it makes a differences which software you are using to create a mp3 from your CD. Exact audio copy reads audio CDs almost perfectly while some other software does a jitter correction on scratched CDs. Differences can be really heard!
Back to photocopies – when I visited the largest medical library in Germany, the ZMB in Cologne, I was deeply impressed by all the students wearing headphones and sun glasses while copying pages hour by hour, an eldritch scenery, yea, yea.

Precisez, mon cher, precisez

I am currently reading Geert Mak’s “In Europa”, an excellent history of European history (in particular important for me as my high school education ended with the Weimar republic! I always wanted to ask my former teacher R. Grundel for the reasons but he died recently). This book finds and connects all the lost threads while being excellently written and easy to read. I am citing here from the notes of Harold Nicolson (p 137), a young British diplomat, who served as an advisor to Lloyd George, Clémenceau and Wilson: Continue reading Precisez, mon cher, precisez