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CureFFI.org | cureffi.org Reviews

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1

The powerful protective effect of G127V

http://www.cureffi.org/2015/06/10/the-powerful-protective-effect-of-g127v

The powerful protective effect of G127V. Jun 10, 2015 ericminikel Cambridge, MA. Underwent massive positive selection during the kuru epidemic [ Mead 2009. From its origins 10 generations ago (the estimated time to most recent common ancestor of Fore G127V chromosomes) the variant rose to a 7% allele frequency in the most heavily affected regions, with not a single person carrying the variant falling ill with kuru. See also Glenn Telling’s commentary. Skeptics may note that the 127V transgenic mice in th...

2

Archives

http://www.cureffi.org/archives

Everything · no notes. 2016-08-19 — Presymptomatic imaging. 2016-08-16 — Native function update. 2016-08-02 — The role of microglia in prion disease. 2016-07-10 — CJD2016. 2016-07-06 — Mouse models of genetic prion disease. 2016-06-28 — Introductory prion reading list. 2016-06-03 — New Technologies Club lecture on cryo-electron microscopy. 2016-05-13 — Prion2016. 2016-05-08 — A mechanism of action hypothesis. 2016-04-27 — Differential scanning calorimetry. 2016-03-02 — What do we know about ApoE? 2015-11...

3

About

http://www.cureffi.org/about

My name is Eric Vallabh Minikel. And I’m on a lifelong quest to develop a treatment or cure for human prion diseases. I originally trained as a city planner at M.I.T. and was working as a software engineer and data analyst in the transportation sector when, in December 2011, I got some bad news. My wife and the love of my life, Sonia Vallabh, tested positive for a mutation (. Sonia and I set out on a quest. Where we work side by side in Stuart Schreiber’s lab. We now realize what once seemed an impos...

4

Two more chapters for 2-aminothiazoles

http://www.cureffi.org/2015/08/02/two-more-chapters-for-2-aminothiazoles

Two more chapters for 2-aminothiazoles. Aug 2, 2015 ericminikel Hamilton, MT. 2-aminothiazoles, typified by lead IND24 (above), are a series of antiprion compounds to which the Prusiner lab has devoted years of effort. They were first discovered in a phenotypic screen for compounds that reduce the accumulation of proteinase K-resistant PrP. In mouse neuroblastoma cells infected with RML prions (ScN2a cells) [ Ghaemmaghami 2010. And after extensive medicinal chemistry optimization [ Gallardo-Godoy 2011.

5

Summaries of the CJD2015 conference talks

http://www.cureffi.org/2015/07/12/summaries-of-the-cjd2015-conference-talks

Summaries of the CJD2015 conference talks. Jul 12, 2015 ericminikel Washington, DC. At the request of Debbie Yobs and Lori Nusbaum, these are my non-technical summaries of the talks at the CJD Foundation’s 2015 Family Conference held in Washington, D.C. on July 10-12, 2015, intended for a general audience. Which normally is a perfectly healthy thing. But if PrP. Folds differently and changes its shape, it can then induce other copies of PrP. If and only if. There are prions in the patient sample, those p...

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plagnol-lab.blogspot.com plagnol-lab.blogspot.com

Plagnol lab's blog: Non-invasive pre-natal testing for chromosomal abnormalities: bioinformatics and the UK NHS process

http://plagnol-lab.blogspot.com/2014/07/non-invasive-pre-natal-testing-for.html

About me (and my work). Rare disease genetics- UCL exomes consortium. Wednesday, 9 July 2014. Non-invasive pre-natal testing for chromosomal abnormalities: bioinformatics and the UK NHS process. NIPT signal associated with a fetal micro. Deletion on chromosome 22 causing. Kitty Lo, a postdoctoral researcher in my group at UCL, just published a new. And an associated R package called RAPIDR (. What is non-invasive pre-natal testing (NIPT) and how does it work? NIPT in the UK: the RAPID project. As part of...

macarthurlab.org macarthurlab.org

What do we miss with exome sequencing? | MacArthur Lab

https://macarthurlab.org/2014/07/21/what-do-we-miss-with-exome-sequencing

Extracting useful information from large genomic datasets. What do we miss with exome sequencing? The exome era turns five years old this fall, with the anniversary of the “Targeted capture and massively parallel sequencing of 12 human exomes” [ Ng 2009. Born at a time when whole genome sequencing cost. WGS has remained a last resort for a few reasons: it’s still a bit more expensive than WES, it produces more data we have to process and store, and despite some notable recent advances [ Ritchie 2014.

macarthurlab.org macarthurlab.org

The MacArthur lab at ASHG2014 | MacArthur Lab

https://macarthurlab.org/2014/10/18/the-macarthur-lab-at-ashg2014

Extracting useful information from large genomic datasets. The MacArthur lab at ASHG2014. Several members of the MacArthur lab will be presenting at the American Society of Human Genetics Meeting in San Diego Oct 18-22, 2014. Here’s a rundown of what not to miss. And his wife Sonia Vallabh will speak in invited session #6: Crowdsourced Genetics. Room 6AB, Upper Level. Will present poster 1255S. Exhibit Hall, Poster 1255S. Will introduce the Human Knockout Project. Hall B1, Ground Level. A graduate studen...

inheritedpriondiseasesupport.org inheritedpriondiseasesupport.org

Useful Links | Inherited Prion Disease Support Network

http://www.inheritedpriondiseasesupport.org/638210

Inherited Prion Disease Support Network. No results found for. About Inherited Prion Disease. News and Research Updates. Below are some links we hope you will find useful. We will continue to add to this page, please do let us know ( ipdsupportnetwork@hotmail.co.uk. If you have any recommendations you would like to add. The National Prion Clinic. The CJD Support Network. NHS Counselling and Genetic Counselling. NHS Choices Genetic Counselling Information. NPC support and Counselling Services. At the Nati...

plagnol-lab.blogspot.com plagnol-lab.blogspot.com

Plagnol lab's blog: February 2013

http://plagnol-lab.blogspot.com/2013_02_01_archive.html

About me (and my work). Rare disease genetics- UCL exomes consortium. Monday, 11 February 2013. Genetics of cardiomyopathies: it's not easy. Congratulation to Luis Lopes (PhD at the UCL Heart Hospital) who just published his paper ( open access. In the Journal of Medical Genetics) on a high throughput sequencing screen of a cohort of hypertrophic cardiomyopathy. Genetics of inherited cardiac disorders are really complex. The attitude of cardiologists toward genetic diagnosis is changing. My point is that...

marks.hms.harvard.edu marks.hms.harvard.edu

Debora S. Marks Lab

https://marks.hms.harvard.edu/people.html

Marks Lab Members and Collaborators. Debora S. Marks. Rohan defended his PhD on the evolution of laboratory and natural populations of Escherichia coli at Michigan State University in 2016. His main interest is molecular evolution. Rohan is especially interested in whether coevolution at the molecular scale is sufficient (or not) in driving the evolution of complex cellular lifeforms. Postdoc (joint with Chris Sander). Postdoc (joint with Chris Sander). Charlotta is a Bioinformatics PhD student from the ...

plagnol-lab.blogspot.com plagnol-lab.blogspot.com

Plagnol lab's blog: We're hiring

http://plagnol-lab.blogspot.com/2013/05/were-hiring.html

About me (and my work). Rare disease genetics- UCL exomes consortium. Wednesday, 1 May 2013. A range of applicants are welcome, and the applicant's field can range from computer science to more abstract mathematics. Some experience with programming and scientific computation is expected however. The link for this application is here. Please get in touch with me if you are potentially interested in working with me at UCL and have any question about the application process. View my complete profile.

plagnol-lab.blogspot.com plagnol-lab.blogspot.com

Plagnol lab's blog: Latest paper: Bayesian test for co-localisation between pairs of genetic association studies using summary statistics

http://plagnol-lab.blogspot.com/2013/05/latest-paper-bayesian-test-for-co.html

About me (and my work). Rare disease genetics- UCL exomes consortium. Monday, 20 May 2013. Latest paper: Bayesian test for co-localisation between pairs of genetic association studies using summary statistics. In this latest paper. Just submitted to arXiv, led by PhD student Claudia Giambartolomei) we want to answer the following question: given two genetic association studies both showing some association signal at a locus, how likely is it that the same variant is responsible for both associations?

plagnol-lab.blogspot.com plagnol-lab.blogspot.com

Plagnol lab's blog: Three jobs @UCL

http://plagnol-lab.blogspot.com/2014/01/three-jobs-ucl.html

About me (and my work). Rare disease genetics- UCL exomes consortium. Sunday, 26 January 2014. Transcriptome analysis in blood and iPS cells of retinitis pigmentosa (RP) patients. Andrew Webster, Tony Moore, Michel Michealides, Shomi Bhattacharya (inherited retinal disorders), Pete Coffey (induced pluripotential stem cell technology) and myself. Sanjay Sisodiya, UCL Institute of Neurology and myself. Wellcome Trust, European Union, MRC. Four year PhD studentship:. Subscribe to: Post Comments (Atom).

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December 18, 2017. Protective PrP missense variants. December 15, 2017. Human prion propagation in cell culture. December 13, 2017. Targeting glutamate receptors in prion disease. December 11, 2017. Huntingtin becomes the huntingted. December 8, 2017. Skin, surgery, and CJD. November 10, 2017. Announcing the Prion Registry. October 25, 2017. July 25, 2017. July 19, 2017. Clinical research study launching at Massachusetts General Hospital. June 8, 2017. 567 more posts in archives→.

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