DNA analysis can help in pre-marital screening process

A Weill Cornell Medical College (WCMC) study that analysed the DNA has discovered genetic variations that could help doctors target interventions to reduce the prevalence of a variety of debilitating hereditary disorders.

Researchers at WCMC in Qatar and WCMC New York, working with colleagues from Cornell University in Ithaca and Hamad Medical Corporation, identified 37 genetic variants in 33 genes known to play causal roles in a total of 36 diseases.

Currently, pre-marital counselling in Qatar screens for four genetic variations out of the 37 identified by the study.

Dr Ronald Crystal, chairman of Genetic Medicine at WCMC-NY, who leads a group of research projects investigating the Qatari genome, asserted that with more comprehensive screening, people will be able to make more informed choices about whether they feel it is safe to have children together.

“Alternatively, it is possible to screen the fertilised eggs for variations that cause disorders before they are implanted.

“The improved screening can also be useful for adults who can change their lifestyle to prevent themselves from developing diseases. For example, those found susceptible to having elevated cholesterol and triglycerides that can cause cardiovascular disease could alter their diet and do plenty of exercise to mitigate the risk.”

The scale and scope of the group of studies have been made possible by the new generation of advanced technologies that allow researchers to analyse vast amounts of genetic data.

WCMC-Q has a well-established state-of-the-art genomics research laboratory under the stewardship of Dr Joel Malek, assistant professor of Genetic Medicine and director of Genomics, which affiliated researchers can draw upon.

“At the genomics lab we can look at all of the abnormalities at once and the process is vastly quicker and more efficient,” Dr Crystal said.

Dr Khalid Fakhro, post-doctoral associate in Genetic Medicine at WCMC-Q, and a co-lead principal investigator on the study, explained how research at WCMC-Q is paving the way for a new era of genetics research in the region, given that Arab representation in the 1,000 Genome Project is virtually zero.

“At WCMC-Q we are working to develop our own database of genomes relevant to the region. We have already sequenced 100 full genomes and we have a project running to sequence the exomes of 1,000 individuals. Both of these databases will give genetic research in our region a huge boost,” he added.

Hospital course
helps improve
nurse-patient
relationship

he Hamad Medical Corporation’s Rumailah Hospital has launched an education series designed to help nurses develop the skills and professional mechanisms required to manage emotionally challenging times and, in turn, improve the nurse-patient relationship.

The driving force behind the implementation of the education series, which started in 2011, is improving patient satisfaction and promoting a positive caring experience through evidence-based practice.

Rumaillah Hospital’s A/DON Jasmin Cherian stated that the education series equips nurses with the communications skills required to better understand patient preferences.

“These sessions play a crucial role in improving nurse-patient relationships as they teach nurses how to prioritise and outline patients’ clinical care and they also provide nurses with the appropriate communication skills required to empathise with patient preferences.”

Commenting on the initiative, Rumailah Hospital Nursing director Ghaya al-Tamimi said the sessions have improved the relationship between nurses and their patients.

“As a result of these educational sessions, the inter-professional relations between staff have significantly improved and the role of nurses as patient advocates in the care and management of their patients has become more apparent,” she said.

She noted that nurses are now able to interact confidently with other disciplines.

“Their goal is more focused on the perspectives of their patients and their communication skills are more efficient in promoting positive and productive relationships with patients, their families and staff from other disciplines within the healthcare setting.”

The therapeutic nurse-patient relationship education series was recently recognised by HMC during the 2013 Stars of Excellence Awards with a Star of Excellence in the category of education.

The initiative was acknowledged for its contribution in helping to improve the overall health service delivery, enhance the patient experience and achieve HMC’s unifying goal of providing the safest, most effective and compassionate healthcare for each and every patient.

The new education series ensures HMC nurses provide compassionate care to patients.

NRIs to take up real estate
scams at Delhi meeting

By Ramesh Mathew

Staff Reporter

Problems faced by Qatar-based victims of many land and housing scams in India will be highlighted at a session to be held as part of the Pravasi Bharatiya Divas (PBD) Convention in New Delhi tomorrow.

According to reports, more than 250 non-resident Indians from Qatar have been duped by builders, especially in Mumbai, Kerala and Karnataka.

The Overseas Indian Cultural Congress (OICC), an organisation of expatriates from Kerala, has decided to take up the issue at the PBD meeting. OICC global president and Doha-based entrepreneur C K Menon told Gulf Times that the forum would urge the authorities to set up fast-track courts to deal with such problems.

“Most of the high courts and lower courts are already burdened with a large number of other cases and the issues concerning real estate scams get delayed. So we hope the setting up of fast-track courts would go a long way in solving many issues,” said OICC spokesperson Mansoor Palloor.

The OICC will also highlight the need to form a regulatory authority at the state level. “We demand that such an authority with quasi judicial powers should have as members engineers, chartered accountants, tax consultants, builders and also representatives of the residents associations so that there would be complete transparency in its functioning,” he said.

Doha-based legal professional Nizar Kochery said his firm in Kerala alone handles more than 60 individual real estate cases from Qatar.

“More than 40 complaints are about a single builder in Kochi,” he said, adding many NRIs from Qatar have been cheated by their builders in the last three-four years.

It is also reported that a number of NRIs have not lodged complaints against the builders even though the construction of their projects are behind schedule.

Inquiries with some of the victims found they are exploring the possibility of filing cases in Doha courts as local cheques were issued to the local representatives of some of the real estate developers.

Study gives insight into genetic variation

The mapping and analysis of Qatari genomes, as part of a Weill Cornell Medical College study, has provided unexpected insight into a genetic variation that affects African-derived populations all over the world.

In a separate study, led by Dr Ronald Crystal, chairman of Genetic Medicine at WCMC-NY, researchers focused on a variation of the gene ApoE that makes carriers disproportionally susceptible to having increased levels of unhealthy fats or triglycerides in their blood, which is associated with disorders such as heart disease, type 2 diabetes and stroke.

The ApoE variant, termed R145C, was previously considered extremely rare, but Dr Crystal’s study found that the mutation is far more common than was realised and that it disproportionally affects people of sub-Saharan African extraction.

The study, reported in the American Journal of Cardiology, compared the genomes of Qatar’s sub-Saharan African subgroup with the Persian-South Asian group and the Bedouin by analysing 228 individuals.

The investigators found that 17% of the African-derived subgroup had the R145C variant, while none of the Bedouin or Persian participants had the mutation. The research team then examined the 1,000 Genomes Project data and found that the R145C variant is virtually non-existent among populations of non-African descent but is found in between 5 and 12% of African-derived populations.

A study of 1,266 African-Americans in the New York area found that 4% carried the R145C variant.

“These findings have important implications for African and African-derived populations all over the world, including in the US,” Dr Crystal said.

“From a Weill Cornell point of view, it was extremely gratifying for us to make a discovery in Qatar that provided insight into the health of people in New York, where our home campus is,” he added.