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How Science Is Solving Sickle Cell Disease

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Dr Ciaran Lee is based at APC Microbiome Ireland SFI Research Centre in University College Cork. Photograph: Tomas Tyner

 

Scientists have used a DNA cutting technique to remove a gene responsible for sickle-cell disease (SCD) – a life-threatening blood genetic disorder.

According to the information scooped from irishtimes.com, the scientific breakthrough using Crispr (clustered regularly interspaced short palindromic repeats) genetic editing technology by a team including an Irish researcher has been outlined in findings reported in the journal Science.

“Crispr-Cas9 is a molecular scissors that we can use to cut and remove disease-causing mutations in our DNA,” explains Dr Ciaran Lee, a postdoctoral student at APC Microbiome Ireland research institute at University College Cork who took part in the research.

Dr Lee – a Marie Curie research fellow – did the experimental work at Rice University in Houston, Texas, and his data analysis was carried out on his return to Ireland. Leading researchers from Rice University, Stanford University and Aarhus University were also involved.

The life expectancy for people with SCD is between 42 and 47, and it affects in the region of 500 people in Ireland. It is most common among people of sub-Saharan African descent, while the numbers affected in Ireland have been growing over the past two decades.

Cas9 is a gene-cutting enzyme that uses a family of DNA sequences commonly known as Crispr, and then remove specific bits of DNA that scientists believe are linked with disease.

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Haemoglobin defect

SCD is caused by a defect in adult haemoglobin, a protein in the red blood cells that carry oxygen around the body and give the blood its red colour. The defect causes red blood cells to become shaped like sickles or crescent moons. These abnormal cells can slow or block blood flow and cause pain, swelling, infections and vision problems.

In prior work scientists activated a type of haemoglobin present in the foetus, to compensate for defective adult haemoglobin. This was done, Lee says, by targeting regions of DNA called repressors.

“This approach is currently being tested in clinical trials with the early data showing great promise that Crispr-Cas9 gene therapy can result in a long-term cure,” Lee says.

The problem with this strategy, he explains, is that it does not remove the SCD causing genetic mutation from our cells. “Our study takes a different approach, using Crispr-Cas9 to target the disease mutation and replace it with the correct sequence.”

“While we and others have shown that this is possible in cells in a dish, this current study shows that when done at clinical scale this approach is efficient, safe and leads to correction of long-lived stem cells,” Lee says.

The study opens the door to similar gene-cutting strategies being adopted as a way to cure a range of genetic diseases. “These are all essential for developing an effective cure for sickle cell anaemia and other genetic diseases,” he points out.

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The success of this research in a large-scale clinical trial on mice opens the door for trials in humans with SCD to begin. A US company specialising in use of gene-editing techniques to tackle disease is set to begin such trials later in 2021 or early in 2022.

 

 

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Health

Ondo Resident Doctors Begin 14-Day Warning Strike

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Resident doctors at the University of Medical Sciences Teaching Hospital (UNIMEDTH) in Ondo State have initiated a 14-day warning strike, as confirmed by the National Association of Resident Doctors (NARD).

The strike action, led by the association’s President, John Matthew, highlights various grievances, notably the non-payment of seven months’ salaries to new members.

Matthew added that the strike also addresses the non-payment of palliative to House Officers since February, the failure to disburse the February Hazard Allowance despite prior assurances from the state government, and the ongoing shortage of staff due to resignations.

Matthew lamented the drastic decrease in resident doctors, citing a decrease from 150 doctors to a mere 26 in recent months.

In response to the situation, he urged management to prioritise the full payment of arrears owed to members, immediate payment of the February 2024 palliative to house officers, and prompt disbursement of the February hazard allowance.

The association further called for urgent measures to address the critical shortage of clinical manpower within the institution.

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Health

FG Okays N25bn Disbursement to Enhance Healthcare Delivery

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File photo of the Coordinating Minister of Health and Social Welfare, Ali Pate,

The Federal Government has greenlit the allocation of N25 billion to bolster the efforts of the National Primary Healthcare Development Agency (NPHCDA) and the National Health Insurance Authority (NHIA) in advancing healthcare accessibility and quality across Nigeria.

The Coordinating Minister of Health and Social Welfare, Ali Pate, made this known, stressing the steadfast commitment of the current administration towards revamping the healthcare system to achieve Universal Healthcare Coverage (UHC) for all Nigerians.

In a statement by Deworitshe Patricia, a spokesperson for the ministry, Pate emphasised that the government’s strategy for health sector transformation involves the implementation of a Sector Wide Approach (SWAp) and the Health Sector Renewal Investment Programme (NHSRIP).

Addressing the imperative for reforms in Nigeria’s primary healthcare delivery, Pate highlighted the significance of revising the Basic Healthcare Provision Fund (BHCPF) and its associated programmes.

Pate outlined the objectives of the revised guidelines, which include expanding healthcare services for underserved populations, particularly women and children, reducing maternal mortality rates, alleviating out-of-pocket healthcare expenses, and standardizing healthcare quality across primary healthcare facilities nationwide.

“The Ministry, in collaboration with development partners, is dedicated to ensuring equitable access to healthcare services for all Nigerians, with a special focus on vulnerable groups,” stated Pate. “Through initiatives like NHSRIP, we aspire to minimize the need for long-distance travel for medical care, thereby improving the overall health outcomes and well-being of our citizens.”

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Photos: Saudi Medical Team Make History, Separate Nigerian Conjoined Twins

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In a monumental achievement for medical science, a team of Saudi professionals at the King Abdullah Specialist Children’s Hospital has completed the separation surgery of Nigerian conjoined twins, Hassana and Husaina.

The directive for this historic achievement came from the Custodian of the Two Holy Mosques King Salman bin Abdulaziz Al-Saud and His Royal Highness Prince Mohammed bin Salman bin Abdulaziz Al-Saud, Crown Prince and Prime Minister, demonstrating the Kingdom’s commitment to advancing healthcare.

The complex procedure, initiated on Thursday morning, was the result of meticulous planning and execution by a dedicated team of 38 medical experts. This group included consultants, specialists, technicians, and nursing staff, all working in harmony to address shared areas in the lower abdomen, pelvis, lower spine, and lower spinal nerves of the twins.

The surgery, unfolding in nine carefully planned stages, lasted approximately 14 hours. Dr. Abdullah Al Rabeeah, Advisor at the Royal Court, Supervisor General of the King Salman Humanitarian Aid and Relief Center (KSrelief), and head of the medical team, expressed confidence in the success of the procedure, citing a noteworthy 70% success rate.

“This is a momentous occasion that showcases the Kingdom’s commitment to advancing medical science and providing compassionate healthcare globally,” he said.

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The successful separation of Hassana and Husaina commemorates the 60th operation conducted by the Saudi programme for separating conjoined twins. Over the past 34 years, this programme has offered care to 135 conjoined twins from 25 countries.

Dr. Al Rabeeah expressed heartfelt gratitude and appreciation to the Saudi leadership for their steadfast support of the programme.

He said, “The successful separation of Hassana and Husaina exemplifies the Kingdom’s dedication to humanitarian causes and its role as a leader in global healthcare.”

The Press Attaché at the Saudi embassy in Abuja, Mohammed Alsahabi, remarked on the accomplishment, stating, “This remarkable feat underscores the strong collaboration between Saudi Arabia and Nigeria in healthcare. We take pride in contributing to the improvement of these twins’ lives and their families.”

The separation of Hassana and Husaina represents not just a medical triumph but also serves as a symbol of hope for numerous individuals confronting similar challenges globally.

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