Cell Biology

Germany and Poland launch research ‘twinning’ effort – Nature.com

Germany and Poland are to jointly fund top scientists to start research groups at Polish institutes, in a scheme that could provide a new blueprint for eastwest research collaboration in the European Union.

On 4 July, the two nations announced the Dioscuri programmenamed after the ancient Greek word for the mythological twin brothers Castor and Pollux which will provide ten scientists with up to 3 million (US$3.4 million) each over the next decade, to establish their own centres of excellence in Poland.

The programme aims to boost research excellence in the EUs less-developed science regions, and is overseen by Germanys prestigious Max Planck Society (MPS). If successful, it will be extended to nearby EU countries, says society president Martin Stratmann.

The society already has connections with the EUs largest Eastern European country: it operates two research groups with sites in Poland, but they are entirely Polish-funded. By contrast, the new centres will get half of their funding from Germany. Polands National Science Centre, a government research-funding agency in Krakow, will manage the centres, and the MPS will oversee an international committee to select the winning scientists. Calls for applications will go out in November.

The programme is modelled on the MPSs Minerva scheme, which has supported research in Israel along similar lines for more than 50 years, albeit with different historical roots. Minerva was designed to build bridges between the two countries after the Second World War.

The EU has already spent hundreds of millions of euros on twinning and teaming initiatives that fund centres of excellence at labs in poorer regions, formed in partnership with elite institutions in richer countries. But critics say these programmes are heavily bureaucratic, are influenced by political and geographical factors as well as research excellence, and focus on centres of technological innovation rather than on individual scientists. Why should a research programme focus on business and innovation when what we really need is a culture of excellence? says molecular biologist Maciej ylicz, president of the Foundation for Polish Science, a large research-funding agency in Warsaw.

Poland does participate in the EU programmes, but has not done particularly well. This year, for example, institutions in the country won just 3 out of 30 EU teaming grants whereas those in the Czech Republic received 6, and those in tiny Cyprus scored 9. (The European Parliament raised queries about Cypruss surprising performance, but research commissioner Carlos Moedas responded in June that the competition was impartial and fair, and put the discrepancy down to a relatively low number of applications overall.)

Stratmann says that the EU teaming initiatives encourage wise spending of the blocs funds on science, although they are not based on excellence alone. But the EU money has to fall on fertile ground, he saysand the Dioscuri initiative could help on that score.

Such lean and less-bureaucratic efforts that focus on individual researchers have the best chance of closing the EUs eastwest gap in science, says Tomasz Dietl, a semiconductor physicist at the Polish Academy of Sciences Institute of Physics in Warsaw. This is the right way to go to improve the quality of research here, he says.

Poland is a land of opportunity now, with an excellent national granting system, says Marcin Nowotny, a group leader at the International Institute of Molecular and Cell Biology in Warsaw and one of a few scientists in Poland who have received grants from the European Research Council. But it needs more entry points and a Max Planck-stamped programme will help exactly this.

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Germany and Poland launch research 'twinning' effort - Nature.com

Biochemistry

MCI order on signing med reports causes stir- The New Indian Express – The New Indian Express

BENGALURU:A communication by the Medical Council of India saying that only those who have registered with MCI and state medical councils will be allowed to sign on medical reports has received opposition from the hospital sector. This recent decision by MCI will keep all pathologists and those with MSc or MD in biochemistry, microbiology, medical microbiology away from signing certificates, health and medical reports.

At present, MSc and PhD holders in medical microbiology, medical biochemistry, life sciences, applied biology, cutogenetics and biotechnology are allowed to sign medical test reports. But this new decision by MCI will restrict MSc and PhD holders to only teaching. A senior professor of a medical college in the city said, These are allied sciences and MCI cant restrict them to teaching. If MCI says only those registered with MCI can sign health and medical reports, then only MBBS doctors can sign. These pathology lab reports are system generated and they dont need an MBBS holder to sign them, said another senior pathologist.

Many in the sector have raised the issue with Union health minister J P Nadda on Twitter and some have even asked HRD minister Prakash Javadekar to remove MSc in biochemistry and microbiology courses from the purview of U GC.

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MCI order on signing med reports causes stir- The New Indian Express - The New Indian Express

Physiology

Welcome to University Of Botswana :: Job Opportunities … – University of Botswana

Last Date of Apply : 19.07.2017

Date of Posting : 04.07.2017

Faculty / Department : Faculty of Medicine

Job Detail:

TECHNICIAN (PHYSIOLOGICAL AND/OR MICROBIOLOGICAL SCIENCES) VACANCY NO. IRC 721

Duties: The successful applicant will be expected to work in Human Physiology and/or Microbiology laboratories under the tutelage of the physiology and/or microbiology teams, ensuring that laboratories are effectively managed, serviced and maintained. The successful candidate will be expected to (i) Manage the human physiology and microbiology laboratories and other sections under their area of responsibility (ii) manage and service laboratory equipment (iii) instruct users in the correct use of equipment (iv) maintain stocks of consumables (v) liaise with researchers, academic staff and chief technician on the procurement of equipment and materials (vi) maintain a safe working environment in the areas of responsibility (vii) mentor junior technical staff.

Requirements: Applicants must have (i) at least a Diploma or Degree in the relevant field and at least two years experience post qualification experience in a technical role in a human physiology/microbiology or related laboratory. They should demonstrate good technical, administrative and supervisory skills and familiarity with IT.

How to Apply:

Applicants should address the stated qualifications and provide any other information to assist the University to determine your suitability for the position. They should quote the vacancy number of the post applied for, provide current CVs (including telephone and telefax numbers, and e-mail), certified true copies of educational certificates and, names, addresses and contact details of three referees. Applicants should inform their referees to (i) quote the vacancy number (ii) position applied for, and (iii) submit their references directly to the address stated below before the stipulated closing date. Send your application to: The Human Resources Manager, Faculty of Medicine, Private Bag UB 00713 Gaborone, Botswana. Tel. (267) 355 2884 Fax (267) 355 4738. E-mail to kgomotso.maribe@mopipi.ub.bw or boikanyego.otumiseng@mopipi.ub.bw

Hand delivered applications should be submitted to Office No. UB Academic Hospital at 3rd Floor, Block F Office 4003 or 4004.

NB: Only shortlisted applicants will be contacted.

CLOSING DATE: 19 JULY 2017

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Welcome to University Of Botswana :: Job Opportunities ... - University of Botswana

Embryology

Ferring Announces New Analysis of Rekovelle Data Relating to … – Business Wire (press release)

SAINT-PREX, Switzerland--(BUSINESS WIRE)--Ferring Pharmaceuticals announced today a new analysis of Rekovelle (follitropin delta) data that showed cumulative live birth rates were similar between women receiving Rekovelle and conventional follitropin alfa treatment.1 In addition, Rekovelle data from a separate new analysis showed a favourable safety profile in women with high anti-Mllerian hormone (AMH) levels.2 These analyses of the ESTHER-1 and ESTHER-2 Phase III clinical trials3,4 were presented today at the 33rd Annual Meeting of the European Society of Human Reproduction and Embryology (ESHRE) in Geneva, Switzerland.

Rekovelles individualised dosing regimen, based on a patients AMH level and body weight, provides clinicians with a consistent, evidence-based approach to personalising treatment for their patients, said Per Falk, Executive Vice President and Chief Scientific Officer, Ferring Pharmaceuticals. These new Rekovelle analyses add further evidence for a personalised approach to fertility treatment for patients.

A new analysis of the ESTHER-1 and ESTHER-2 trials showed that in women undergoing in vitro fertilisation (IVF), the cumulative live birth rate for fresh embryo transfers after three treatment cycles was 43.9% (292/665) with Rekovelle and 44.5% (294/661) with follitropin alfa.1 In addition, ongoing pregnancy rate was 45.1% (300/665) and 45.7% (302/661), respectively.1 The ESTHER trials3,4 were not powered for this analysis, so no confirmatory conclusions can be derived.

A separate new analysis of the ESTHER-1 trial was conducted to evaluate ongoing pregnancy rates, early ovarian hyperstimulation syndrome (OHSS) and preventive interventions for early OHSS in women with different AMH levels.2 For women with high AMH 35 pmol/L (13% of the trial population) the incidence of early OHSS with Rekovelle was lower (4.7%, 4/86) compared with conventional follitropin alfa dosing (11.9%, 10/84). The number of patients requiring preventive interventions for early OHSS was also lower (4.7%, 4/86 and 23.8%, 20/84 respectively). In addition, patients maintained ongoing pregnancy rate.2 The ESTHER trials3,4 were not powered for this analysis, so no confirmatory conclusions can be derived.

- ENDS -

About Rekovelle(follitropin delta) Rekovelle is the first recombinant follicle stimulating hormone (rFSH) derived from a human cell line (PER.C6 cell line).3,5,6,7 It has been developed for individualised dosing based on a patients body weight and serum AMH level, as determined by a companion diagnostic, the Elecsys AMH Plus immunoassay from Roche.3,8,9 Rekovelle is structurally and biochemically distinct from other existing recombinant FSH treatments.3,5,6,7

Rekovelle received Marketing Authorisation from the European Commission (EC) in December 2016.

About the ESTHER trials ESTHER-1 (Evidence-based Stimulation Trial with Human recombinant FSH in Europe and Rest of World) is a Phase 3, randomised, assessor-blind, controlled trial of 1326 patients in 11 countries undergoing their first ART cycle. Patients were randomized 1:1 to receive treatment with individualised Rekovelle, a fixed daily dose based on serum anti-Mllerian hormone (AMH) levels and body weight, or conventional follitropin alfa dosing. The co-primary endpoints of ongoing pregnancy rates and ongoing implantation rates were met and results showed no difference between the two treatment arms. Results of the ESTHER-1 trial were published in the February 2017 issue of Fertility & Sterility.3

ESTHER-2 is a Phase 3, assessor-blind, controlled trial evaluating the immunogenicity of Rekovelle in a subset of ESTHER-1 patients undergoing repeated cycles of controlled ovarian stimulation for ART. Data demonstrated no increased immunogenicity risk with Rekovelle after exposure in repeated cycles.4

About AMH and OHSS AMH is a biomarker used to assess ovarian reserve and can help predict ovarian response.10 Women with high AMH levels are at an increased risk of developing OHSS, a potential complication of IVF treatment.11,12 Symptoms of early OHSS may include abdominal distension or discomfort, nausea and vomiting. In more severe cases OHSS can lead to large amounts of ascites (fluid accumulation in the abdominal cavity), shortness of breath, blood clots, dehydration and potentially, death.11

The prevalence of OHSS in women undergoing IVF varies according to severity, with cases of OHSS experienced by 2033% (mild), 36% (moderate) and 0.12% (severe) of women.13 A recent report suggested that OHSS is an underreported side effect of ovarian stimulation and the real world incidence may be higher.14 In addition to the impact on patients, the treatment of OHSS is associated with significant costs to the healthcare system.15 In the UK for example, the cost of treating moderate and severe cases of OHSS is estimated to be over 7 million every year.15,16

About Ferring Pharmaceuticals Headquartered in Saint-Prex, Switzerland, Ferring Pharmaceuticals is a research-driven, specialty biopharmaceutical group active in global markets. A leader in reproductive and maternal health, Ferring has been developing treatments for mothers and babies for over 50 years. Today, over one third of the companys research and development investment goes towards finding innovative treatments to help mothers and babies, from conception to birth. The company also identifies, develops and markets innovative products in the areas of urology, gastroenterology, endocrinology and orthopaedics. Ferring has its own operating subsidiaries in nearly 60 countries and markets its products in 110 countries. For further information on Ferring or its products, visit http://www.ferring.com.

About the ElecsysAMH Plus immunoassay from Roche The Elecsys AMH Plus immunoassay from Roche has been shown to provide a precise, reliable and robust measurement of AMH levels.8,9,17,18,19,20 This fully automated Elecsys AMH Plus immunoassay, run on the cobase and Elecsys immunoassay analysers, determines AMH levels in 18 minutes, making it appropriate for routine clinical use. The Elecsys AMH Plus immunoassay is intended to be used for assessment of ovarian reserve, prediction of response to COS and establishment of the individual daily dose of Rekovelle in combination with body weight in COS for the development of multiple follicles in women undergoing an assisted reproductive technology programme.8,9,17,18,19,20

References

1 Havelock J, Bosch E, Sanchez F, et al. Cumulative ongoing pregnancy and live birth rates following repeated controlled ovarian stimulation (COS) cycles using individualised follitropin delta dosing compared to conventional follitropin alfa dosing [abstract] In: 33rd Annual Meeting of the European Society of Human Reproduction and Embryology (ESHRE); 2017; Geneva, Switzerland. Abstract no. 0-168

2 La Marca A, Nelson S, Gothberg M, et al. The impact of serum anti-Mllerian hormone (AMH) levels on clinical outcome of individualized follitropin delta dosing and conventional follitropin alfa dosing in controlled ovarian stimulation [abstract]. In: 33rd Annual Meeting of the European Society of Human Reproduction and Embryology (ESHRE); 2017; Geneva, Switzerland. Abstract no. 0-174

3 Nyboe Andersen A, Nelson SM, Fauser BC, et al. Individualised versus conventional ovarian stimulation for an in vitro fertilization: a multicenter, randomized, controlled assessor-blinded, phase 3 noninferiority trial. Fertil Steril. 2017: 107(2): 387-396

4 Buur Rasmussen A et al. Low immunogenicity potential of follitropin delta, a recombinant FSH preparation produced from a human cell line: Results from phase 3 trials (ESTHER-1 and ESTHER-2). Human Reproduction 2016; 31: 385

5 Rekovelle Summary of Product Characteristics (SmPC) Available at: https://www.medicines.org.uk/emc/medicine/33324 [Last accessed: June 2017]

6 Arce JC, Andersen AN, Fernndez-Snchez M, et al. Ovarian response to recombinant human follicle-stimulating hormone: a randomized, antimullerian hormonestratified, doseresponse trial in women undergoing in vitro fertilization/intracytoplasmic sperm injection. Fertil Steril. 2014;102(6):16331640

7 Olsson H, Sandstrm R, Grundemar L. Different pharmacokinetic and pharmacodynamic properties of recombinant follicle-stimulating hormone (rFSH) derived from a human cell line compared with rFSH from a non-human cell line. J Clin Pharmacol. 2014; 54(11):12991307

8 Deeks ED. Elecsys AMH assay: a review in anti-Mllerian hormone quantification and assessment of ovarian reserve. Mol Diagn Ther. 2015; 19: 245-249

9 Roche Diagnostics. Elecsys AMH (anti-Mullerian hormone): Method sheet. 2015. https://pim-eservices.roche.com. [Last accessed June 2017]

10 La Marca A, Sighinolfi G, Radi D, et al. Anti-Mullerian hormone (AMH) as a predictive marker in assisted reproductive technology (ART). Hum Reprod Update. 2010; 16(2):113-130

11 OHSS Symptoms and Causes. Patient Care and Health Information. Mayo Clinic. http://www.mayoclinic.org/diseases-conditions/ovarian-hyperstimulation-syndrome-ohss/symptoms-causes/dxc-20263586 [Last accessed: June 2017]

12 Salmassi A, Mettler L, et al. Cut-Off Levels of Anti-Mullerian Hormone for the Prediction of Ovarian Response, In Vitro Fertilization Outcome and Ovarian Hyperstimulation Syndrome. Int J Fertil Steril. 2015; 9(2): 157-167

13 Delvigne A, Rozenberg S, et al. Epidemiology and prevention of ovarian hyperstimulation syndrome (OHSS): a review. Hum Reprod Update. 2002; 8(6): 559-577

14 Thomsen L, Humaidan P, et al. Ovarian hyperstimulation syndrome in the 21st century: the role of gonadotropin-releasing hormone agonist trigger and kisspeptin. Curr Opin Obstet Gynecol. 2015; 27(3): 210-214

15 Yates AP, Rustamov O, Roberts SA, et al. Anti-Mullerian hormone-tailored stimulation protocols improve outcomes whilst reducing adverse effects and costs of IVF. Hum Reprod. 2011; 26(9): 2353-2362

16 Fertility Treatment in 2014 Trends and Figures Report. Human Fertilisation and Embryology Authority. http://www.hfea.gov.uk/docs/HFEA_Fertility_treatment_Trends_and_figures_2014.pdf [Last accessed June 2017]

17 Gassner D, Jung R. First fully automated immunoassay for anti-Mllerian hormone. Clin Chem Lab Med. 2014;52(8):1143-1152

18 Anderson RA, Anckaert E, Bosch E, et al. Prospective study into the value of the automated Elecsys antimllerian hormone assay for the assessment of the ovarian growing follicle pool. Fertil Steril. 2015;103(4):107480.e4

19 Nelson SM, Pastuszek E, Kloss G, et al. Two new automated, compared with two enzyme-linked immunosorbent antimllerian hormone assays. Fertil Steril. 2015;104(4):1016-1021.e6

20 Hyldgaard J, Bor P, Ingerslev HJ, et al. Comparison of two different methods for measuring anti-mullerian hormone in a clinical series. Reprod Biol Endocrinol. 2015;13(1):107

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Ferring Announces New Analysis of Rekovelle Data Relating to ... - Business Wire (press release)

Embryology

IVF babies more likely to become overweight – TV3 Xpos – TV3.ie

4th Jul 17 | Fitness & Wellbeing

Infants who begin life in a lab will end up heavier than peers who were conceived naturally, experts claim.

Babies born through in vitro fertilisation (IVF) treatment are more likely to be overweight, new research has discovered.

Experts from Maastricht University in the Netherlands claim that 'test tube' infants' genes are altered through the process and they weigh on average 1.5 pounds (700grams) more than babies conceived naturally by nine years old.

It's thought youngsters hold onto fat when not starting out in their mother's tummy, leading them to become heavier as time goes on.

To come to their conclusions, the researchers looked at 136 children born through IVF in the Netherlands. Focusing on youths aged nine-and-a-half and of average height, it was found that they came in at 1.5 pounds heavier than those of the same age and stature who didn't begin life in a laboratory.

The hormones in which women take in order to harvest their eggs could be the reason why the cells in the embryo change, causing the babies to store more fat.

"This is enough of a weight difference to be concerning, because overweight children are more likely to become overweight adults. We think IVF children may be predisposed to cardiovascular problems, including heart problems, in later life. They may be programmed wrongly by IVF to store food as fat throughout their lives," lead researcher Dr. Heleen Zandstra said.

Referring to the chemicals used during IVF, Dr. Zandstra noted it may mean infants are born smaller, but the weight issues will emerge later down the line.

"(The chemicals) might change the way the baby absorbs nutrients, or how the placenta passes them on," she added. "At an older age, this may cause a child born smaller to store more food as fat, because their body wants to make sure they get enough."

The study was presented at the European Society of Human Reproduction and Embryology conference in Geneva.

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IVF babies more likely to become overweight - TV3 Xpos - TV3.ie

Embryology

Male partner’s age can affect IVF delivery success: Study – Independent Online

The study of almost 19 000 IFV treatment cycles showed a decline in the success rate with increasing male partner age.

"Our study found an independent effect of male age on the cumulative incidence of live birth," said investigator Laura Dodge from Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, US.

The study, scheduled to be presented at the European Society of Human Reproduction and Embryology meeting in Geneva on Tuesday, was an analysis of all IVF cycles performed at a large IVF centre in the Boston region between 2000 and 2014, a total of almost 19 000 cycles performed in 7753 couples.

The female partners in these cycles were stratified according to four age bands - under 30, 30-35 years, 35-40 years and 40-42.

Men were stratified into these same four age bands, with an additional band of 42 and over.

As expected, the cumulative live birth rate (measured from up to six cycles of treatment) was lowest in those couples where the female partner was in the 40-42 age band, and in this group the age of the male partner had no impact, demonstrating the dominant detrimental effect of female age.

However, within the other bands of female age, the cumulative incidence of live birth was significantly affected by male partner age and was found to decline as the man grew older.

For example, in couples with a female partner aged under 30, a male partner aged 40-42 was associated with a significantly lower cumulative birth rate (46 percent) than a male partner aged 30-35 (73 percent).

Similarly, in couples with a female partner aged 35-40 years live birth rates were higher with a younger than with an older male partner.

"Women aged 35-40 did significantly benefit from having a male partner who is under age 30, in that they see a nearly 30% relative improvement in cumulative incidence of live birth when compared to women whose partner is 30-35 - from 54 percent to 70 percent," Dodge said.

For women between ages 30 and 35, having a partner who is older than they are is associated with approximately 11 percent relative decreases in cumulative incidence of live birth when compared with having a male partner within their same age band, Dodge said.

In natural conceptions increasing male age is associated with a decreased incidence of pregnancy, increased time to pregnancy, and increased risk of miscarriage, Dodge noted.

The mechanisms, she added, are unclear but may include impaired semen parameters, increased DNA damage in sperm, and epigenetic alterations in sperm that affect fertilisation, implantation, or embryo development.

-IANS

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Male partner's age can affect IVF delivery success: Study - Independent Online

Genetics

Genetics causing arthritis possibly helped humans survive Ice Age – The Indian Express

By: IANS | New York | Published:July 4, 2017 10:51 pm Mutations in the gene called GDF5 resulted in shorter bones that led to a compact body structure while reducing the risk of bone fracture from falling. Thus, it also favoured early humans to better withstand frostbite. (Source: File photo)

A genetic change associated with shorter stature and increased risk of arthritis might have helped our ancestors survive the Ice Age, a study has showed. The findings showed that mutations in the gene called GDF5 resulted in shorter bones that led to a compact body structure while reducing the risk of bone fracture from falling. Thus, it also favoured early humans to better withstand frostbite as well as helped them migrate from Africa to colder northern climates between 50,000 and 100,000 years ago.

These advantages in dealing with chilly temperatures and icy surfaces may have outweighed the threat of osteoarthritis, which usually occurs after a prime reproductive age, the researchers said. The variant that decreases height is lowering the activity of GDF5 in the growth plates of the bone.

Interestingly, the region that harbours this variant is closely linked to other mutations that affect GDF5 activity in the joints, increasing the risk of osteoarthritis in the knee and hip, said Terence Capellini, Associate Professor at the Harvard University. For the study, published in the journal Nature, the team examined gene GDF5 first linked to skeletal growth in the early 1990s to learn more about how the DNA sequences surrounding GDF5 might affect the genes expression.

They identified a single nucleotide change that is highly prevalent in Europeans and Asians but rarely occurs in Africans. Introducing this nucleotide change into laboratory mice revealed that it decreased the activity of GDF5 in the growth plates of the long bones of foetal mice. The potential medical impact of the finding is very interesting because so many people are affected, said David Kingsley, Professor at the Stanford University.

This is an incredibly prevalent, and ancient, variant. Many people think of osteoarthritis as a kind of wear-and-tear disease, but theres clearly a genetic component at work here as well. Now weve shown that positive evolutionary selection has given rise to one of the most common height variants and arthritis risk factors known in human populations, Kingsley said.

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Genetics causing arthritis possibly helped humans survive Ice Age - The Indian Express

Genetics

Genetics of Earlobes – News-Medical.net

Similar to the human eyes, nose, and lips, the earlobes also have special features. Although the human ears look similar, there are minor structural differences that make each ear different from the other.

The major form of the gene that determines the shape of the earlobe is known as an allele. An allele is a gene which is found at a specific position on a chromosome. It has been established that all genes in our body have two copies; one from each parent.

Image Credit: Thiti Sukapan / Shutterstock

An earlobe is made up of connective tissues combined with a mixture of areola tissues and fat cells. Earlobes have a good blood supply which help in keeping them warm and maintaining balance. Majorly, there are two types of earlobes found in humans - free earlobes and attached earlobes.

Free Earlobes: Free earlobes are the most common form of lobes found. This type of earlobe is often large and hangs below the point of attachment to the head. This happens due to the influence of a dominant allele. If the genes from the parents get expressed by the dominant allele, then the child will be born with free earlobes.

In most cases, the allele is regnant to the free lobes compared to attached lobes. The free earlobe parents can also give birth to an attached earlobe child, depending on the reaction of the allele gene. If parents with free earlobes give birth to a baby with attached earlobes, it is certain that both of them had both a copy of the dominant and recessive allele.

Attached Earlobes: These types of earlobes are not rare, but are also not commonly found. Earlobes of such type are small in size and do not have hangs. They are attached directly to the side of the head. The structural formation of this kind of lobe is due to the absence of the dominant allele in the chromosomes. The recessive allele is expressed instead in the chromosomes to form an attached earlobe. It is not necessary that parents with attached earlobes should give birth only to the attached earlobe child.

Traits are the major factors that result from chromosome pairs and which, in turn, determine ones overall physical appearance. When alleles combine, some exert stronger influence down sythan the others. The stronger allele is responsible for the dominant traits. Dominant alleles are said to be found throughout an organism. If the dominant allele fails to show its presence, the recessive allele will be expressed. These are known as recessive traits. Although the traits vary, the size of the earlobes for both the traits remain the same. An average mans ear measures 6cm, while for a woman it is about 5cm, in which the earlobe size measures about 2cm.

Genetic conditions play an important role in the birth of a human being. People born with abnormal growth of organs are considered to be affected by the traits before their birth. The major conditions that cause irregular or abnormal growth include:

Birth disorders may be minor or severe and may occur at any stage during pregnancy. Most disorders affect the baby while in the womb, before the formation of the organs; however, not all genetic defects are caused by the transfer of gene from the parents. In many cases, the baby may be born with genetic disorders that the parents gene does not contain. Some defects are considered to be harmless, while some may require prolonged medical treatment.

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Genetics

Jared Wareham; The Genetic Paradox – CattleNetwork.com

Throughout human existence it has been our nature to push the envelope. More speed. More power. More performance. Ingenuity combined with trial and error spawn new peaks in technology.

As we strive to stay ahead of the technological advancement curve, we sometimes forget about the interconnected systems that might need time and adjustment to catch up. Too much torque and the transmissions or drivelines wear out easily. Increases in output translate into greater input requirements and higher priced fuels. At some point, the law of diminishing returns kicks in, making that next increase to performance or production too costly and economically inefficient. Much of the same can be said of beef genetics.

It is amazing how much progress our industry has made in genomics in such little time. Genetic improvement is absolutely vital for every segment of our industry because it helps promote multiple elements linked to sustainability. However, producers need to be mindful of the inevitable trade-off that comes with a rapidly accelerated discovery curve.

Decades ago, the push for performance was inadvertently tied to frame. Mature size and calving difficulties almost singlehandedly devastated the marketability of many breeds. Though unintended, the consequences were still significant. It is no different than the push for muscle cars with powerful stances and large throaty motors that also guzzled fuel by the gallon.

Oddly enough, we have corrected cow size, yet cow maintenance or input cost remains a common issue. If you install a high performance racing engine in a car, it will require a grade of fuel of equal magnitude to perform up to its potential. Cheap, poor quality fuels simply wont do. The same is true for your cowherd. If you continue to select for growth and milk genetics, be prepared to adjust the feed input requirements that will follow. Our push to discover that next elite genetic package is changing the beef herd from independent foragers to concentrate dependents.

There are other phenotypic systems that desperately need to catch up with a hastily advancing genotype population. Evidence of this can be seen in the national beef herd by simply looking at their feet. The push to discover cattle that can be marketed as the next top genetic package for extreme calving ease, growth and marbling, is creating a significant gap in animal soundness.

Unintended consequences, arise under the strain of scientific and economic achievement. It will take time and discipline to bring traits like soundness up to speed.

I am by no means making an argument against genetic advancement. On the contrary, I am a firm believer in improvement and making wise use of all genetic selection tools. I simply see the road to change is not straight and narrow. It winds and turns with plenty of peaks and valleys, as well as, the occasional switch back. As a breeder, you need to understand the trade-offs that come with accelerated genetic selection. Can you afford to add that next unit of performance or milk? Or, should you keep pace just behind the curve and capture value as the rest of the systems catch up?

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Jared Wareham; The Genetic Paradox - CattleNetwork.com

Genetics

NHS to offer personal cancer care based on patients’ genetics – iNews

A new era of genome-based personalised medicine for cancer could be in place within five years under plans unveiled by the Chief Medical Officer.

The genomics dream outlined by Professor Dame Sally Davies would see millions of patients having all their DNA tested as genome sequencing becomes as routine as MRI or CT scans.

Ultimately, the future goal is for every cancer patient to have his or her whole genome sequenced, making the procedure as standard as blood tests and biopsies. People with rare diseases are also expected to benefit from having greater access to the technology, ending the years-long diagnostic odyssey of multiple tests and visits to different specialists.Whole genome sequencing involves unscrambling the entire book of genetic instructions that make us what we are, encompassing 3.2 billion letters of code.

Research suggests that in 60 per cent of cases, the genomes of cancer patients reveal actionable data personal mutations that can shape future treatment.

Tens of thousands of NHS patients have already had their DNA mapped, but the recommendations set out in Dame Sallys Generation Genome report aim to multiply the numbers many times over.

Dame Sally said: The age of precision medicine is now and the NHS must act fast to keep its place at the forefront of global science .

This technology has the potential to change medicine forever but we need all NHS staff, patients and the public to recognise and embrace its huge potential.

Genomic medicine has huge implications for the understanding and treatment of rare diseases, cancer and infections.

Currently, genetic testing of NHS patients in England is conducted via 25 regional laboratories and a plethora of smaller units operating along the lines of a cottage industry, Dame Sally said.

Her chief recommendation is to centralise all the labs and establish a national network providing equal access to the tests across the country.

Within government, a new National Genomics Board would be set up, chaired by a minister, to oversee the expansion and development of genomic services, taking into account new advances within the rapidly evolvingtechnology.

The Health Secretary, Jeremy Hunt, said he welcomed the report, pointing out that the UK had established itself as a world leader in genomics medicine. He added: Tens of thousands of patients across the country have already benefited from quicker diagnosis, precise treatment and care, and we will support the NHS to continue its relentless drive to push the boundaries of modern science.

Part of what made greater access to whole genome sequencing feasible was the rapidly falling cost of the tests, which has dropped from several thousand pounds to 680.

Reporting by John von Radowitz, Press Association

Achieving the genomics dream could make a huge difference to the 3.5 million adults and children with one of the 7,000 recognised rare diseases that could be treated far more quickly and more effective with genome testing.

Every persons genome contains 3.2 billion letters of genetic code, amounting to two terabytes of data. If it was printed your genome would fill a stack of books 61 metres high. Although officials now talk about personalised medicine, what they are trying to deliver is diagnosis and treatment related to the genomic signature of a particular patient.

This means giving the most effective drugs against cancer, using drugs which will cause fewer side effects, seeking new drugs and treatments and moving to personalised prevention. There will also be other applications, many of which we are not yet aware of, the report says.

In the case of cancer, tumour cells develop a different genome to normal cells. Comparing a patients normal and cancerous DNA can provide valuable clues about the best form of treatment, although this information is not set in stone. Cancers evolve rapidly and alter their DNA, which can make them resistant to treatments.

This is still much more to learn about genomes and their relation with treatment response, but once that knowledge base expands there should be much faster diagnosis of rare diseases which currently take on average four years to diagnose.

Paul Gallagher

Originally posted here:
NHS to offer personal cancer care based on patients' genetics - iNews