What is Genomics? Comparing Sequencing Before and Now

Genome Infographic: UK to become world number one in DNA testing with plan to revolutionise fight against cancer and rare diseases

Understanding Genomics

  • What is a genome?
  • What is genomics?
  • Sequencing: before, now, why?
genome infographic
UK to become world number one in DNA testing with plan to revolutionise fight against cancer and rare diseases – @GenomicsEngland .

The 100,000 Genomes Projectv aiming to revolutionise medicine by unlocking the secrets of DNA, is under way in centres across England.

On Flickr®

Les dérives de l’industrie pharmaceutique

Vidéo entretien avec le professeur Philippe Even

Rencontre avec le professeur Philippe Even – auteur avec le professseur Bernard Debré, d’un livre de 900 pages – Guide des 4000 médicaments utiles, inutiles ou dangereux.
Philippe Even pointe les dérives de l’industrie pharmaceutique…

  • Un entretien – vidéo via BUSIBOSS, publiée le 27 Sep 2011.
Le Distilbène DES, en savoir plus:

UK National Sperm Bank to launch in Oct 2014 in Birmingham

The National Gamete Donation Trust (NGDT), in partnership with Birmingham Women’s Hospital, has been awarded Department of Health funding to provide a National Sperm Bank set to benefit thousands

sperm-egg image
Birmingham Spermbank: ” Dedicated to recruiting sperm donors from across the Midlands, supporting and providing them a positive experience of being a donor within a leading UK clinic. “

Sadly for some DES Sons having their own children is not always possible! Many deal with urogenital abnormalities, structural and functional abnormalities in their sex organ and reproductive outcomes.

The UK National Sperm Bank, to be based at Birmingham Women’s Hospital, with spokes across England, will be offering a modern, NHS based, fully-integrated donor recruitment, screening and banking center which could deliver for all donor sperm requirements across the UK. The project has been awarded funding of £77,000 by the Department of Health.

There is currently a national shortage of sperm donors in the UK, especially in NHS clinics. Patient numbers continue to rise and treating those who need donor sperm is a major problem.

The introduction of the National Sperm Bank will reduce the number of patients putting themselves at risk by using unregulated sperm donation services. For the first time, those from ethnic minority backgrounds will be able to choose from a range of culturally matched donors. Heterosexual and same-sex couples will be able to use the service, as well as single women.

Sources and More Information:

  • National Sperm Bank launched at Birmingham Women’s Hospital, NHS latest news, 24 July 2014.
  • UK sperm bank to be opened in Birmingham, BBC News, 3 Aug 2014.
  • National sperm bank to be launched amid donor shortage, The Guardian UK news, 3 Aug 2014.
  • UK facing ‘major’ sperm shortage, BBC Health, 28 June 2014.

No Hand to Hold and No Legs to Dance on, by Louise Medus

A Thalidomide survivor’s story, a triumph of the human spirit over adversity

no hands to hold and no legs to dance on book cover image
A Thalidomide survivor’s story, by Louise Medus.

While the battle for the compensation of Thalidomide victims was raging in the 1970s and is still very much in the news today, former Labour MP Jack Ashley asked in a parliamentary debate how Louise, then 11 years old, could look forward to ‘laughing and loving with no hand to hold and no legs to dance on‘.

Louise was born Louise Mason, a victim of the devastating drug Thalidomide. Born without arms and legs, she is the daughter of David Mason, who single-handedly held out against the drug company, the legal establishment and all the other parents of Thalidomide victims in the high-profile fight for proper compensation for the victims.

As she was photographed with her family and appeared on television meeting celebrities during the battle, few people realised that she did not live with her wealthy parents and three siblings at their spacious North London home but was being brought up in an institution, Chailey Heritage in Sussex. In fact, Louise had never gone home from hospital and, for the first five weeks of her life, her mother didn’t even see her.

This is a survivor’s story, a triumph of the human spirit over adversity. Louise married John, a partially sighted man, and had two beautiful children. She was devastated when she discovered that he was having an affair with their carer. She also had to undergo a kidney transplant, the first Thalidomide victim to do so. She has worked, been an active disability rights campaigner and has now found new love, with Darren, a fellow Thalidomide victim who was born without arms.

More Information
On Flickr®

Is Genomics England the New Space Race?

UK DNA Testing Massive Challenge

image of DNA
£300 million investment that will transform how diseases are diagnosed and treated announced by the UK Prime Minister yesterday. The 100,000 Genomes Project, aiming to revolutionise medicine by unlocking the secrets of DNA is under way in centres across England.

England is poised to take a giant leap into the brave new world of genomic medicine, wherein everyone will eventually have their entire three billion letters of their genetic code unravelled in order to diagnose, treat and even predict future illnesses.

Genomics England, with the consent of participants and the support of the public, is creating a lasting legacy for patients, the NHS and the UK economy through the sequencing of 100,000 genomes: the 100,000 Genomes Project.

Genomics England was set up by the Department of Health to deliver the 100,000 Genomes Project. Initially the focus will be on rare disease, cancer and infectious disease. The project is currently in its pilot phase and will be completed by the end of 2017.

The UK is set to become the world leader in ground-breaking genetic research into cancer and rare diseases, which will transform how diseases are diagnosed and treated, thanks to a package of investment worth more than £300 million, the Prime Minister announced yesterday.

Sources and More Information:

  • Human genome: UK to become world number 1 in DNA testing, Gov.UK, press release, Aug. 1, 2014.
  • The 100,000 Genomes Project, GenomicsEngland,
    website and PDF.
  • DNA project ‘to make UK world genetic research leader’, BBC News, health-28488313, Aug. 1, 2014.
  • Government backs massive new £300m gene sequencing project, Independent, Health News, Aug. 1, 2014.

Some new Birth Control Pills may boost Breast Cancer Risk

Recent Oral Contraceptive Use by Formulation and Breast Cancer Risk among Women 20 to 49 Years of Age

birth pills image
Women who recently used birth control pills containing high-dose estrogen and a few other formulations had an increased risk for breast cancer, Fred Hutch study finds. Image credit @ScienceDaily © areeya_ann / Fotolia.

Women who recently used birth control pills containing high-dose estrogen and a few other formulations had an increased risk for breast cancer, whereas women using some other formulations did not, according to data published in Cancer Research, a journal of the American Association for Cancer Research.

Our results suggest that use of contemporary oral contraceptives [birth control pills] in the past year is associated with an increased breast cancer risk relative to never or former oral contraceptive use, and that this risk may vary by oral contraceptive formulation ” said Elisabeth F. Beaber, PhD, MPH, a staff scientist in the Public Health Sciences Division of Fred Hutchinson Cancer Research Center in Seattle, Washington.

“ Our results require confirmation and should be interpreted cautiously,” added Beaber. “Breast cancer is rare among young women and there are numerous established health benefits associated with oral contraceptive use that must be considered. In addition, prior studies suggest that the increased risk associated with recent oral contraceptive use declines after stopping oral contraceptives. ”

In a nested case-control study of 1,102 women diagnosed with breast cancer and 21,952 controls, Beaber and colleagues found that recent oral contraceptive use increased breast cancer risk by 50 percent, compared with never or former use. All study participants were at Group Health Cooperative in the Seattle-Puget Sound area. Patients received a cancer diagnosis between 1990 and 2009.

Birth control pills containing high-dose estrogen increased breast cancer risk 2.7-fold, and those containing moderate-dose estrogen increased the risk 1.6-fold. Pills containing ethynodiol diacetate increased the risk 2.6-fold, and triphasic combination pills containing an average of 0.75 milligrams of norethindrone increased the risk 3.1-fold.

Birth control pills containing low-dose estrogen did not increase breast cancer risk.

About 24 percent, 78 percent, and less than 1 percent of study controls who were recent oral contraceptive users filled at least one prescription in the past year for low-, moderate-, and/or high-estrogen dose oral contraceptives, respectively, according to Beaber.

Unlike most previous studies that depended on women’s self-report or recall, which may cause bias, Beaber and colleagues used electronic pharmacy records to gather detailed information on oral contraceptive use including drug name, dosage, and duration of medication.

Sources and More Information
  • Recent Use of Some Birth Control Pills May Increase Breast Cancer Risk, AACR, ItemID=572, Aug. 1, 2014.
  • Some newer birth control pills may boost breast cancer risk, Fred Hutch study finds, Hutchinson Center, center-news, Aug. 1, 2014.
  • Recent Oral Contraceptive Use by Formulation and Breast Cancer Risk among Women 20 to 49 Years of Age, AACR, content/74/15/4078, May 24, 2014.

Primodos, the Hormone Pregnancy Test which caused Birth Defects and devastated Lives

Sarah Rainey spoke to some people affected by Primodos, investigated and reported the long history behind the claims and counter-claims…

As MPs meet last May to discuss allegations that Primodos, a hormone pregnancy test, is to blame for birth defects that have devastated lives, Sarah Rainey spoke to some of those affected, investigated and reported the long history behind the claims and counter-claims.

Please find Hugh Easton‘s article introduction as “guest post” :

primodos protest image
Photo: Heathcliff O’Malley via @Telegraph

This article is about a drug called Primodos, basically a high dosage version of the same artificial hormones as are used in contraceptive pills. Bizarre as it sounds, from 1958 to 1974, giving a woman Primodos (or the German equivalent Duogynon) was the standard method used in the UK and a number of European and Commonwealth countries for determining whether she was pregnant or not. Exposure to Primodos generally occurred during the time organogenesis and limb development were taking place, the same part of the pregnancy where exposure to thalidomide causes deformities. The result is that it appears to have caused similar deformities to those that occurred as a result of thalidomide. Several hundred thousand pregnant women in the UK were being given Primodos annually prior to its withdrawal in 1974, so even if it only caused deformities in a few percent of cases, the number of babies affected must have been quite large. Nonetheless, the whole thing’s been swept under the carpet.

One of the things mentioned in the documentary about Thalidomide I linked to a few weeks ago, is that most of the approx. 2000 thalidomide babies born in the UK were euthanized by the NHS, so that only 400 survived beyond infancy. Probably the same thing was going on with Primodos babies, and has gone a long way towards concealing how bad the deformity rate actually was.

Sexually dimorphic development doesn’t start until about 6 weeks after conception, and it appears that most exposures to Primodos must have happened earlier than that, so intersex-related abnormalities aren’t a major issue among Primodos victims. However, reading through the comments for this article, it appears that there’s at least one case where a male baby exposed to Primodos went on to experience many of the same difficulties commonly experienced by DES sonshypospadias, undescended testes, incomplete masculinisation and gender dysphoria. ”

UK wants the Industry to come up with Alternatives to Animal Testing

Minister Norman Baker wants end to UK animal tests

image of lab mice
The Minister in charge of regulating animal experiments in the UK said he wants to see an end to all testing.

Mr Norman Baker, the minister in charge of regulating animal experiments in the UK, has said he wants to see an end to all testing. In a statement, Mr Norman Baker said: “The coalition government is committed to enhancing openness and transparency about the use of animals in scientific research to improve public understanding of this work. It is also a personal priority of mine. The consultation on Section 24 of the Animals in Science Act has now concluded and we are currently analysing responses in preparation for pursuing potential legislative change.”

Souces and More Information:

  • Minister wants end to animal testing,
    National Headlines, 427081, Jul 31 2014.
  • Minister Norman Baker wants end to UK animal tests,
    BBC News, 28580792, 31 July 2014.