Articles from the PHG Foundation Newsletter

First whole-genome sequencing for rare genetic diseases

Sun, 14 Mar 2010 20:38:10 +0000

This week, the first findings from whole-genome sequencing of people with rare genetic diseases have been released. Hitherto performed for only a few healthy individuals, researchers have now used high-throughput genomic sequencing of DNA from two families with different inherited disorders. Re ...

Mitochondrial genetic heterogeneity in normal and cancerous cells

Thu, 11 Mar 2010 13:11:43 +0000

Whilst the vast majority of human DNA is located in the nucleus, a small amount is also present in the mitochondria – the ‘power houses’ of  the cell – and mutations in one of the mitochondrial DNA (‘mtDNA’) is responsible for several serious rare inherited d ...

Warnings about unlicensed cord blood collection

Tue, 09 Mar 2010 11:46:29 +0000

The UK Human Tissue Authority (HTA) has issued an official warning that unlawful collections of umbilical cord blood have been taking place in the UK, and that such instances ‘may compromise safety and quality standards’ (see press release). Cord blood banking is growing in popularity ...

Calls for libel law reform to protect evidence-based science

Mon, 08 Mar 2010 16:14:15 +0000

The PHG Foundation has joined many other eminent UK-based organisations in signing up to the National Petition for Libel Reform seeking amendment of English libel law. Libel is when published or broadcast material claims or implies something about an individual or group that portrays them in a negat ...

Human gut microbial metagenome sequenced

Thu, 04 Mar 2010 22:02:12 +0000

Remarkably, every human body contains ten times as many (much smaller) microbial cells as it does human cells. Interest in the role of this ‘microbiome’ in health and disease has been growing over recent years (see previous news), especially with the advent of faster genome sequencing. N ...

Genetic factors and cardiovascular risk prediction in women

Tue, 02 Mar 2010 10:19:38 +0000

An important aspect in the prevention of cardiovascular disease involves risk prediction in order to identify individuals at high risk and tailor treatment strategies. Risk prediction is usually based on knowledge of conventional risk factors (e.g. blood pressures, smoking, cholesterol levels) and f ...

Selected new reviews and commentaries, 2 March 2010

Tue, 02 Mar 2010 09:29:24 +0000

Stem cells: Big roles for small RNAs. Slack FJ. Nature. 2010 Feb 4;463(7281):616 Time for the epigenome. Nature. 2010 Feb 4;463(7281):587. Valid concerns.Nature. 2010 Jan 28;463(7280):401-2  The impact of human copy number variation on a new era of genetic testing.Choy KW, Setlur SR,&nb ...

New centre for genomics knowledge to be created

Sun, 28 Feb 2010 15:56:01 +0000

The CDC National Office for Public Health Genomics (NOPHG) in the US has announced plans to create a new Knowledge  Synthesis Center using the methods of the Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative. EGAPP produces periodic reviews which summarise the ava ...

Australian private insurer offers half-price genome scan

Fri, 26 Feb 2010 11:49:49 +0000

In a controversial move that has re-ignited debate about the possibility of unfair genetic discrimination, the Australian insurance company nib is offering half-price genome scans from the US direct-to-consumer company Navigenics (see New Scientist). The company uses whole genome profiling technol ...

Partnership to accelerate use of biomedical innovation for health

Thu, 25 Feb 2010 22:17:44 +0000

The US Food and Drug Administration (FDA) and National Institutes of Health (NIH) have announced a joint initiative intended to accelerate the movement of scientific innovations into health care. The Joint NIH-FDA Leadership Council will concentrate on important public health issues, and seek to int ...

Official definition of human embryonic stem cells widened in US

Wed, 24 Feb 2010 08:19:19 +0000

The official definition of human embryonic stem (HES) cells in US National Institutes of Health (NIH) guidelines is to be broadened from those ‘derived from the inner cell mass of blastocyst stage human embryo’ (ie. from embryos that have reached the blastocyst stage at four or fiv ...

Personalised cancer diagnostics and next generation sequencing

Thu, 18 Feb 2010 20:14:18 +0000

New research from the Johns Hopkins Kimmel Cancer Centre, which will be published next week in the journal Science Translational Medicine, describes an innovative clinical application of whole genome sequencing to develop individualised diagnostics for cancer detection (see the Guardian). Normal and ...

Autoantibodies as cancer biomarkers

Thu, 18 Feb 2010 13:46:48 +0000

Identifying cancers early requires the early identification of cancer biomarkers such as elevated levels of tumour-specific proteins (antigens), such as analysis of prostate specific antigen (commonly known as PSA) for prostrate cancer or cancer antigen 125 for ovarian cancer. However, these molecul ...

Telomere length linked to common genetic variant and cognitive decline

Wed, 17 Feb 2010 13:07:20 +0000

It has long been known that the length of telomeres – the repetitive sequences at the end of chromosomes that protect genomic DNA from degradation – is related to age: the older the cell, the shorter the telomeres (see previous news). In stem cells and most cancer cells, the enzyme telom ...

Genomics and policy news monthly round-up - February 2010

Tue, 16 Feb 2010 17:51:06 +0000

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New DNA sequencing method published

Tue, 16 Feb 2010 10:45:38 +0000

Numerous companies and academic researchers are developing ever faster and cheaper ways of performing DNA sequencing (see previous news), but to date none has crossed the widely anticipated $1,000 threshold. A new method for analysis of DNA based on “dynamic chemistry”, rather than biolo ...

Standard DNA parts from synthetic biology research facility

Sun, 14 Feb 2010 22:13:28 +0000

A new facility called BIOFAB (International Open Facility Advancing Biotechnology) has been established with funding from the US National Science Foundation (NSF), the Lawrence Berkeley National Laboratory (LBNL) and the BioBricks Foundation (BBF). BIOFAB intends to create standardised DNA parts ...

Genetic changes may predict prostate-cancer survival

Fri, 12 Feb 2010 11:49:47 +0000

Numerous common genetic susceptibility loci for prostate cancer have been identified through genome-wide association studies (see previous news), but questions remain over their suitability for risk prediction (see previous news). In particular, since asymptomatic prostate cancer is very ...

Pre-conceptual genetic testing for multiple conditions

Tue, 09 Feb 2010 15:31:14 +0000

The Times newspaper has reported that a new pre-conceptual genetic test that detects mutations associated with more than one hundred recessive conditions will shortly be launched in the UK via a fertility centre that offers in vitro fertilisation (IVF) and prenatal genetic diagnosis (PGD) proce ...

SCID recommended for newborn screening in the US

Mon, 08 Feb 2010 13:53:40 +0000

The US Secretary's Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) has recommended that an additional condition be added to the panel of conditions for which all newborns receive screening (see press release). The ACHDNC adopted a list of 29 recommended conditions for wh ...