Connect with us

Health

How Science Is Solving Sickle Cell Disease

Published

on

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.

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.

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.

 

 

Comments

Health

Ondo bans unverified alcohol after 29 die

Published

on

The Ondo State Government has ordered the immediate ban on the sale and distribution of unverified alcoholic drinks and other substances following the deaths of 29 people in Odigbo Local Government Area of the state.

The government also directed security agencies to take immediate action against the sale and distribution of illegal and unapproved products across the state.

The Commissioner for Information and Orientation, Idowu Ajanaku, announced the directive in a statement on Saturday following the deaths and reported cases of illness in several communities in Odigbo.

The state Commissioner for Health, Dr Banji Awolowo-Ajaka, had earlier confirmed that 29 people had died after consuming a suspected contaminated alcoholic drink, while 60 suspected cases had been recorded.

Ajaka said three of the affected persons were receiving treatment in hospitals, while 27 others were under medical observation.

According to him, 95 per cent of those affected were males aged between 16 and 55, with cases reported mainly in Orita Odigbo, Araromi-Obu, Newtown, Odole, Okele and Oniparaga communities.

The commissioner listed the symptoms recorded among the victims as headache, body pain, general weakness, visual disturbance, difficulty in breathing and altered consciousness.

He said some of the patients deteriorated rapidly, resulting in death within a few hours.

Ajaka, however, said the government had yet to establish scientifically that the suspected alcoholic drink was responsible for the deaths.

“The pattern of illness and reported history of exposure have raised strong epidemiological suspicion of exposure to a probable toxic alcoholic substance.

“However, we are yet to have laboratory evidence of the cause of the deaths,” he said.

The commissioner said 36 blood and urine samples had been collected from affected persons for laboratory analysis, while samples of the suspected alcoholic substances had also been submitted for toxicological investigations.

Meanwhile, the state government said scientific officers from the Ministry of Health had been deployed to the affected communities to investigate the substance suspected to be responsible for the deaths and determine its exact composition.

The government urged residents to stop purchasing or consuming unverified alcoholic drinks and other substances, particularly products packaged in sachets or bottles without the approval of the National Agency for Food and Drug Administration and Control.

It also warned sellers and distributors against purchasing, selling or making available for public consumption any substance whose source, content or regulatory status could not be verified.

“Anyone found violating this directive will face the full wrath of the law,” the government warned.

The government said the directive was aimed at preventing further loss of lives and ensuring that the incident did not spread to other parts of the state.

It urged residents to remain vigilant and report suspicious products and activities to the relevant authorities.

The government said the directive was part of the efforts of the administration of Governor Lucky Orimisan Aiyedatiwa to unravel the circumstances surrounding the deaths, protect residents and prevent further casualties.

It assured residents that the investigation would continue until the substance responsible for the deaths, if confirmed, was identified.

Continue Reading

Health

Ebola: WHO seeks 5,000 health workers for DR Congo

Published

on

Health workers in Personal Protective Equipment (PPE) practice safety check protocols on each other during a training by medical charity, Médecins Sans Frontières (MSF) to reinforce regional emergency response capacity for Ebola in the Democratic Republic of Congo (DRC) at Ongata Rongai, Kajiado County in Kenya on July 10, 2026.

The World Health Organisation (WHO) on Tuesday said it needed an additional 5,000 health workers to help contain the Ebola outbreak spreading across the Democratic Republic of Congo.

The outbreak, officially detected on May 15, has spread to six provinces in the country’s conflict-affected eastern and northeastern regions.

The WHO, citing official Congolese figures, said more than 6,600 people had been confirmed infected, while 3,175 had died since the outbreak began.

The development has put further pressure on health facilities in the affected areas, many of which are already struggling with shortages of medical personnel and other essential resources.

Ebola is a highly contagious viral disease transmitted through contact with the bodily fluids of infected persons. It can cause severe bleeding, organ failure and death.

The UN health agency said it was working to establish 3,000 beds in Ebola treatment centres across the affected areas to cope with the rising number of patients.

A senior technical official with the WHO, Luca Fontana, said the expansion would require thousands of additional healthcare workers.

“More than 900 beds have been built within the first two months of the response, and we have now reached close to 1,400 beds across 59 treatment centres,” Fontana told a press briefing in Geneva.

He said another 1,600 beds would be required to meet the rapidly increasing demand.

“Despite this extraordinary effort, we estimate that another 1,600 beds will be required to meet the rapidly growing needs,” he said.

Fontana said nearly 4,000 healthcare workers were currently working in the treatment centres, adding that 5,000 more were urgently needed.

He said the Congolese Ministry of Health was racing against time to identify qualified medical personnel from other parts of the country for deployment to the affected provinces.

“The problem is to identify those fast enough to make sure that we can cover the growing need,” Fontana said.

He stressed that fully staffed treatment centres would be critical to saving lives and bringing the outbreak under control.

“Every treatment centre that is fully staffed and functional means more life saved and a stronger chance of bringing this outbreak under control,” he said.

The current outbreak is caused by the Bundibugyo strain of Ebola, for which there is currently no approved vaccine or treatment. Several vaccines and treatments, however, are being tested.

The outbreak has also been complicated by the security situation in the affected regions, where government presence is weak, healthcare infrastructure is limited and armed groups have operated for decades.

Fontana said the geographical spread of patients seeking treatment was another indication that the outbreak was expanding.

He explained that while most patients initially admitted to treatment centres came from Bunia, the capital of Ituri Province, infected people were now arriving from villages “far beyond” the original epicentre.

He described the development as “a clear sign” that the outbreak was spreading and said the WHO response would have to adapt accordingly.

Ebola has killed more than 15,000 people in Africa over the past 50 years.

The previous major Ebola outbreak in the Democratic Republic of Congo, which lasted from 2018 to 2020, killed nearly 2,300 people out of about 3,500 reported infections.

Continue Reading

Health

Trump cleared for office, doctor orders weight loss ahead of 80th birthday

Published

on

By

United States President Donald Trump has been declared medically fit to continue in office, with his physician describing him as being in “excellent health” while recommending weight loss and increased physical activity weeks before his 80th birthday.

The White House disclosed on Friday that Trump underwent his annual medical and dental examination on Tuesday at Walter Reed Military Hospital near Washington, amid growing scrutiny over his health and fitness for office.

In a three-page medical memo released by the White House, Trump’s physician, US Navy Captain Sean Barbabella, said the president demonstrated strong overall physical and mental capacity.

“President Trump remains in excellent health, demonstrating strong cardiac, pulmonary, neurological, and overall physical function,” Barbabella stated, adding that the president was “fully fit to carry out all duties of the Commander-in-Chief and Head of State.”

However, the physician advised Trump to adopt healthier lifestyle measures, including dietary adjustments, increased physical activity, continued weight loss and low-dose aspirin therapy for cardiovascular prevention.

According to the report, Trump, who will turn 80 on June 14, stands at 6ft 3in tall and weighs 238 pounds (108 kilograms), about 14 pounds more than he weighed during his last full annual medical check-up in April last year.

Despite concerns surrounding his age, the report noted that Trump’s cardiac health reflected an estimated age roughly 14 years younger than his chronological age.

The president also reportedly scored a perfect “30 out of 30” in a cognitive assessment, a result Trump has repeatedly cited in public while contrasting himself with his Democratic predecessor, former President Joe Biden.

The medical report further addressed concerns over bruising frequently seen on Trump’s right hand, attributing it to “minor soft tissue irritation” caused by repeated handshaking and aspirin use.

The memo also referenced scarring on Trump’s right ear linked to the assassination attempt against him during a campaign rally in Butler, Pennsylvania, in 2024, when a gunman opened fire, killing a supporter and slightly wounding the president.

Trump’s latest health evaluation comes amid public concerns after he was occasionally seen appearing drowsy during White House meetings and events. He had also previously been diagnosed with chronic venous insufficiency, a condition that affects blood circulation in the veins and can lead to swelling in the legs.

Reacting shortly after Tuesday’s examination, Trump wrote on his Truth Social platform that the medical exercise had gone “PERFECTLY,” while the White House later shared his photograph online with the caption, “PERFECT BILL OF HEALTH!”

The release of the report also sparked debate in the United States after the White House initially delayed making the medical details public, breaking with the traditional practice of releasing presidential health summaries shortly after such examinations.

Trump has long faced criticism over transparency regarding his health records, with questions also raised over the scheduling and description of his medical evaluations since returning to office.

Continue Reading

Trending