Genome sequencing, from $20 million to $4,400 in 3 years

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays. Drmanac R, Sparks AB, Callow MJ, Halpern AL, Burns NL, Kermani BG, Carnevali P, Nazarenko I, Nilsen GB, Yeung G, Dahl F, Fernandez A, Staker B, Pant KP, Baccash J, Borcherding AP, Brownley A, Cedeno R, Chen L, Chernikoff D, Cheung A, Chirita R, Curson B, Ebert JC, Hacker CR, Hartlage R, Hauser B, Huang S, Jiang Y, Karpinchyk V, Koenig M, Kong C, Landers T, Le C, Liu J, McBride CE, Morenzoni M, Morey RE, Mutch K, Perazich H, Perry K, Peters BA, Peterson J, Pethiyagoda CL, Pothuraju K, Richter C, Rosenbaum AM, Roy S, Shafto J, Sharanhovich U, Shannon KW, Sheppy CG, Sun M, Thakuria JV, Tran A, Vu D, Zaranek AW, Wu X, Drmanac S, Oliphant AR, Banyai WC, Martin B, Ballinger DG, Church GM, Reid CA. Science. 2009 Nov 5. [Epub ahead of print]PMID: 19892942

“Genome sequencing of large numbers of individuals promises to advance the understanding, treatment, and prevention of human diseases, among other applications. We describe a genome sequencing platform that achieves efficient imaging and low reagent consumption with combinatorial probe anchor ligation (cPAL) chemistry to independently assay each base from patterned nanoarrays of self-assembling DNA nanoballs (DNBs). We sequenced three human genomes with this platform, generating an average of 45- to 87-fold coverage per genome and identifying 3.2 to 4.5 million sequence variants per genome. Validation of one genome data set demonstrates a sequence accuracy of about 1 false variant per 100 kilobases. The high-accuracy, affordable cost of $4,400 for sequencing consumables and scalability of this platform enable complete human genome sequencing for the detection of rare variants in large-scale genetic studies.”

Meeting – Cardiac Problems in Pregnancy Feb 26-28, 2010 Valencia, Spain

The First International Meeting on Cardiac Problems in Pregnancy

The goal of “The First International Meeting on Cardiac Problems in Pregnancy” (CPP) is to advance the knowledge and expertise of health care professionals around the globe by exchange of information, development of collaborative research both basic and clinical and establishing guidelines for the management of various cardiovascular conditions during pregnancy and the post partial period.  The CPP Meeting is the first of it’s kind and unique in the collaborative nature, thus ensuring an enriching and informative meeting, which is sure to be enhanced by the beautiful backdrop of Valencia, Spain.

Topics: Physiologic Changes During Normal Pregnancy and the Puerperium, Cardiac Evaluation During Pregnancy, Cardiovascular Imaging in the Pregnant Patient, Congenital Heart Disease and Pregnancy, Valvular Disease and Pregnancy, Pregnancy in the Patients with Artificial Heart Valve, Myocarditis and Pregnancy, Peripartum cardiomyopathy, Hypertrophic Cardiomyopathy and Pregnancy, Pericardial Disorders and Pregnancy, Coronary Artery Disease in the Childbearing Age, Acute Myocardial Infarction and Pregnancy, Cardiac Arrhythmias and pregnancy, Pulmonary Hypertension and Pregnancy, Infective Endocarditis and Pregnancy, Vascular Dissections and Aneurysms During Pregnancy, Marfan Syndrome and Pregnancy, Thromboembolic Disease in Pregnancy, Takayasu’s Arteritis and Pregnancy, Amniotic Fluid Embolism, Hypertension During Pregnancy, Cardiac Surgery During Pregnancy, Analgesia and Anesthesia During Pregnancy, Cardiopulmonary Resuscitation of Pregnant Women, Pregnancy After cardiac Transplantation, Drugs in Pregnancy and Lactation, Diagnosis and Management of Fetal Heart Disease

Australia – Immunisations push public health spending up 21%

Australian Institute of Health and Welfare report released a new report Public health expenditure in Australia, 2007-08.

Public health expenditure in Australia 2007-08 is the eighth in a series of annual reports on public health expenditure in Australia produced by the Australian Institute of Health and Welfare. In that time expenditure on public health activities by health departments has grown, in real terms, by a total of 77.7%, at an average annual growth rate of 7.4%. In 2007-08 it represented 2.2% of total recurrent expenditure on health-up from around 1.9% in the previous years. In the last year, from 2006-07 to 2007-08, public health expenditure increased by $444.0 million to $2,158.8 million. This was largely due to a substantial increase in spending on organised immunisation activities such as the National Human Papillomavirus vaccination program.

(More? UNSW Embryology – Australian Statistics | Womens Health Issues – Human Papillomavirus)

2009 Embryology Course Wiki

ANAT2341 is a Science undergraduate course in Embryology. This course runs in semester 2 each year as an introduction to embryology for the undergraduate student. In 2009 the first complete online lecture series has been published on the new Embryology Wiki being developed for collaborative embryology publication. Supporting this course has been the transfer of embryology movies to a new format.

(More? UNSW Embryology – Embryology Wiki | ANAT2341 Course Timetable 2009 | Movies)

Skin – merkel cell origin

For some time the embryonic origin of the skin merkel cell has been contentious as either neural crest or epithelial. A recent JCB paper using lineage tracing appears to now clearly identify that in mammals the embryonic origin is from the epidermis. Merkel cells are found in touch-sensitive area of the epidermis (stratum basale, stratum germinativum) and mediate mechanotransduction in the skin and are named after Friedrich Sigmund Merkel, a German anatomist who was the first to describe them in 1875.

Epidermal progenitors give rise to Merkel cells during embryonic development and adult homeostasis. Van Keymeulen A, Mascre G, Youseff KK, Harel I, Michaux C, De Geest N, Szpalski C, Achouri Y, Bloch W, Hassan BA, Blanpain C. J Cell Biol. 2009 Oct 5;187(1):91-100. Epub 2009 Sep 28. PMID: 19786578

“Merkel cells (MCs) are located in the touch-sensitive area of the epidermis and mediate mechanotransduction in the skin. Whether MCs originate from embryonic epidermal or neural crest progenitors has been a matter of intense controversy since their discovery >130 yr ago. In addition, how MCs are maintained during adulthood is currently unknown. In this study, using lineage-tracing experiments, we show that MCs arise through the differentiation of epidermal progenitors during embryonic development. In adults, MCs undergo slow turnover and are replaced by cells originating from epidermal stem cells, not through the proliferation of differentiated MCs. Conditional deletion of the Atoh1/Math1 transcription factor in epidermal progenitors results in the absence of MCs in all body locations, including the whisker region. Our study demonstrates that MCs arise from the epidermis by an Atoh1-dependent mechanism and opens new avenues for study of MC functions in sensory perception, neuroendocrine signaling, and MC carcinoma.”

See also: Formation of epidermal and dermal Merkel cells during human fetal skin development. Moll I, Moll R, Franke WW. J Invest Dermatol. 1986 Dec;87(6):779-87. PMID: 3782861

(More? UNSW Embryology - Integumentary Development | Neural Crest Notes | Integumentary System Lecture 2009)

Iodine Deficiency – Australia iodine will be added to bread

Iodine deficiency disorder (IDD) is the single most common cause of preventable mental retardation and brain damage in the world (More? Abnormal Development – Iodine Deficiency). It is required for synthesis of thyroid hormone, which in turn regulates aspects of neural development.

Worldwide: 1.6 billion people are at risk, IDD affects 50 million children, 100,000 cretins are born every year
It causes goiters and decreases the production of hormones vital to growth and development. Children with IDD can grow up stunted, apathetic, mentally retarded and incapable of normal movement, speech or hearing. IDD in pregnant women cause miscarriage, stillbirth and mentally retarded children.

Food Standards Australia New Zealand (FSANZ) – Essential nutrient iodine to be added to bread in Australia

The essential nutrient iodine will be added to bread, through the addition of iodised salt, in Australia from 9 October 2009 to help address the re-emergence of iodine deficiency across most of the population.

Also in Australia, “from September 2009, the mandatory fortification Standard requires Australian millers to add folic acid (a form of the B vitamin folate) to wheat flour for bread-making purposes. This means most bread in Australia will contain added folic acid. Flour represented as ‘organic’ is exempt from mandatory fortification.”

(More? UNSW Embryology – Iodine Deficiency) | Abnormal Development – Iodine Deficiency | Abnormal Development – Folic Acid and Neural Tube Defects |  FSANZ - Fortifying food with vitamins and minerals)

Meeting – Stem Cells 2009

Stem Cells 2009 – November 19-22, Jolly Beach Resort, Antigua

Topics will include: Pluripotency, Modeling stem cells, The niche, Epithelial cancers and To the clinic

(More? UNSW Embryology – Stem Cells)

In Vitro Fertilization

The Human Fertilisation and Embryology Authority (UK) has just released (30 September 2009)statistical information report “IVF treatments rise once again as fertility regulator prepares for a new era” covering in vitro fertilization over recent years. Data shows a continued rise,  an increase of 5.8% from 2006-2007, and lower success for older women.

UK IVF (all forms):

• 2007 – 36,861 women (46,829 cycles)
• 2006 – 34,855 women (44,275 cycles)

Treatments resulted in a live birth using their own fresh eggs for womens age:

• 35 years or under 32.3%
• 44  year or over 3.1%

(More? UNSW Embryology – Week 1 – In Vitro Fertilization)

Abnormal Development – Drugs SSRIs

This British Medical Journal article uses a population based cohort, in an attempt to identify any association between selective serotonin reuptake inhibitors (SSRIs; used to treat depression, mood and anxiety disorders) taken during pregnancy and congenital major malformations. Most early studies (<2005) SSRIs studies had not identified an association, though other more recent studies had.  BMJ 2009;339:b3569

There is an increased prevalence of septal heart defects among children whose mothers were prescribed an SSRI in early pregnancy, particularly sertraline and citalopram. The largest association was found for children of women who redeemed prescriptions for more than one type of SSRI.

(More? UNSW Embryology – Abnormal Development – Drugs)

Assisted reproduction technology in Australia and New Zealand 2007

Australian Institute of Health and Welfare has released a new report today: Assisted reproduction technology in Australia and New Zealand 2007 | Media Release

In 2007, there were 56,817 assisted reproductive technology (ART) treatment cycles undertaken in Australian and New Zealand. Of these cycles, 17.4% resulted in a live delivery (the birth of at least one liveborn baby). In total, 10,856 liveborn babies were born following ART treatment undertaken in 2007. The most important recent trend in ART treatment has been the reduction in the rate of twins and triplets births, with the multiple delivery rate falling from 18.7% in 2003 to 10.0% in 2007. This trend has been associated with an increase in the proportion of ART treatment cycles using single embryo transfer, from 32.0% in 2003 to 63.7% in 2007.

(More? UNSW Embryology – Week 1 – In Vitro Fertilization)