Doctors have used a new type of medicine called "gene silencing" to reverse a disease that leaves people in crippling pain.
The condition, acute intermittent porphyria, also causes paralysis and is fatal in some cases.
The novel approach fine-tunes the genetic instructions locked in our DNA.
Doctors say they are "genuinely surprised" how successful it is and that the same approach could be used in previously untreatable diseases.
How bad is porphyria?
Sue Burrell, from Norfolk, has endured pain few could imagine and needed to take strong opioid painkillers every day.
At one point her porphyria was causing severe attacks every couple of weeks and needed hospital treatment.
But even then morphine did not stop the pain.
She told the BBC it was worse than child-birth, saying: "It's so intense – so strong it's in your legs, in your back, and it just resonates everywhere. It's really, really unbearable."
Her sister was affected even more severely and was completely paralysed in hospital for two years.
What is porphyria?
There are several types of porphyria, but each is caused by the body being unable to produce enough of a substance called haem.
Haem is a key component of the haemoglobin in red blood cells that transport oxygen around the body.
Problems in the body's haem manufacturing process can lead to a build up of toxic proteins.
These cause the attacks of physical pain in Sue's form of the disease. In other porphyrias the proteins can cause skin problems.
There is some speculation King George III had porphyria.
But the new treatment worked?
Sue was one of the patients on the trial and is now taking the drug.
She says her life has been transformed.
"I've had pain for 10 years, I didn't expect that could go away. I'm seeing friends and they're [asking] 'you're not taking any painkillers?' and I was [saying] 'no!'."
A clinical trial on 94 people across 18 countries was presented at the International Liver Congress in Vienna.
The therapy cut the number of severe attacks by 74%.
And 50% of patients were completely clear of attacks that needed hospital treatment, compared to 16% given a dummy treatment.
One person dropped out of the study due to side effects.
So how does it work?
The treatment uses an approach called gene silencing.
A gene is part of our DNA that contains the blueprint for making proteins, such as hormones, enzymes or raw building materials.
But our DNA is locked away inside a cell's nucleus and kept apart from a cell's protein-making factories.
So our bodies use a short strand of genetic code, called messenger RNA, to bridge the gap and carry the instructions.
This drug, called givosiran, kills the messenger in a process known as RNA interference.
In acute intermittent porphyria it lowers the levels of an enzyme involved in haem production and prevents the build-up of toxic proteins.
Is this a big deal?
Prof David Rees, from King's College London, treated patients taking part in the trial in the UK.
He told the BBC: "This is a really important treatment – it's innovative. Porphyria is one of the first conditions it has been used in successfully.
"I'm genuinely surprised how well it works in this condition and I think it offers a lot of hope for the future."
Could this treat other diseases?
Potentially yes, but it is still very early days.
Gene silencing has been used to treat a genetic disease that causes nerve damage and the US Food and Drug Administration said such medicines "have the potential to transform medicine".
A similar approach is also being investigated in Huntington's disease, which is caused by a toxic protein that kills brain cells.
Researchers are also looking into it as an alternative to statins for lowering cholesterol.
Barry Greene, the president of Alnylam, which developed the porphyria drug, told the BBC the latest findings were "heralding a brand new class of medicine".
Are people excited?
The field of gene silencing has been around for a long time.
The Nobel Prize in Physiology or Medicine in 2006 went to the researchers who discovered RNA interference, which occurs naturally in our cells.
But the field is now getting to the point where it can be harnessed to help some patients.
Dr Alena Pance, from the Wellcome SangerRead More – Source
A high-level delegation visited Yei River State to intensify Ebola preparedness in Sudan
Juba, 16 July 2019 – On 15 July 2019, a high-level delegation led by Dr Makur Matur Kariom, Undersec..
Juba, 16 July 2019 – On 15 July 2019, a high-level delegation led by Dr Makur Matur Kariom, Undersecretary, Ministry of Health and Mr Alain Noudehou, UN Resident/Humanitarian Coordinator and comprising Ambassadors of donor countries, heads of United Nations (UN) agencies, , and Representatives of international non-governmental organizations visited Yei town.
The objective of the visit was to among others reassure local authorities of the continued support of the development partners and the one UN in South Sudan; secure sustained commitment of the local authorities to the EVD preparedness efforts and publicize in the national press key messages to the general public regarding Ebola preparedness.
South Sudan is one of the four priority one countries (Burundi, Rwanda, South Sudan, Uganda) prioritized by WHO to enhance preparedness and operational readiness based on the proximity to the outbreak area as well as the capacity to manage Ebola virus disease (EVD) outbreaks in the Democratic Republic of Congo (DRC).
The risk of transmission of EVD into countries that share borders with DRC, including South Sudan, has been classified as “very high” by WHO. Cases of EVD have recently been confirmed in Uganda, Goma and in Ariwara, a town in DRC located just 70km from the border with South Sudan.
“Diseases such as Ebola dont respect boundaries, race or religion so all must ensure that they work together to prevent its cross border transmission into South Sudan”, said Mr Noudehou. He also reiterated the commitment of the UN to continue to support EVD preparedness in the country under the leadership of WHO.
As a priority one country for EVD preparedness, the Ministry of Health, National Task Force, WHO and partners are implementing the National EVD Preparedness Plan, including vaccinating front-line health workers, educating people about prevention and response measures, conducting screening at multiple locations to help with early detection of cases, training personnel in infection prevention and control as well as being preparing for safe and dignified burial processes if needed.
“Although South Sudan has not confirmed any EVD case, implementation of effective public health measures is critical to manage the risk posed by South Sudans complex humanitarian context, the history of previous (EVD) outbreaks, increasing global travel and proximity to DRC”, said Dr Olushayo Olu, WHO Country Representative to South Sudan.
At the end of the visit, the Governor of the state, the state Health Ministry and partners on the ground reiterated their commitment to intensify key interventions and increase public awareness by providing adequate information through all communication channels, religious and community leaders.
In his closing remarks, the Undersecretary, Dr Makur appreciated WHO and other partners for the strong partnership and support rendered to enhance capacities to effectively implement the International Health Regulations (IHR, 2005) and address the threats of EVD and other infectious diseases.
Ebola Virus Disease (EVD) is one of the most fatal and highly infectious diseases known to the world. The on-going outbreak in the Democratic Republic of Congo (DRC) is the second largest outbreak reported globally. As of 13 July 2019, 2 489 confirmed cases and 1 665 deaths have been reported.
WHO is working in Jubek, Gbudue, Tambura, Maridi, Torit, Wau and Yei River states alongside their respective state health ministries and partners to provide strategic public health leadership and support required to ensure that all the high-risk counties are operationally ready and prepared to implement timely and effective EVD risk mitigation, detection, and response measures. (more…)
Winning the hearts of communities fearful of Ebola
Goma, Democratic Republic of the Congo, 24 June 2019 – “You cant take my son away because I know you..
Goma, Democratic Republic of the Congo, 24 June 2019 – “You cant take my son away because I know you will go kill him. You will inject him with Ebola. Thats what everybody here knows.”
This response from an angry father, faced with the possibility that his son would be moved from a local hospital to an Ebola Treatment Centre, reflects the reality of containing an epidemic in an area where folklore, rumour and suspicion of outsiders abound.
For Dr. Ramses Kalumbi, Surveillance Team Leader for the World Health Organization (WHO) in Goma, reassuring his patients and their families is all in a days work. Empathy, patience and compassion are a vital part of the treatment offered by his team of doctors, psychologists and health workers.
The Ebola-affected city of Butembo, where the 27-year-old man has been working as a driver, is 350km away – an eight-hour journey by road. He had returned home to visit his family when he started to feel unwell.
Initial symptoms indicated malaria but his high fever and diarrhoea have rung alarm bells, and now he is terrified. So far, the tiered system of surveillance set up by the government and WHO have kept the disease out of Goma, but nobody can afford to take any chances.
His case came to the attention of a surveillance team combing health facilities and neighbourhoods to identify patients with symptoms that might indicate Ebola infection.
Such cases are quickly sent to the alert centre which deploys investigators to assess the patient and decide whether to authorise a transfer to the nearest Ebola Treatment Centre for blood tests. If the test returns positive, the patient is isolated for treatment and if negative the patient is returned to the initial health facility or to their family to continue previous treatment.
Coupled with distrust of health workers is a belief among many people in Goma that Ebola does not exist.
“They do not have family members in the regions affected by the disease. They are people who have not travelled to see the devastation,” says Bahati Sabimana Faustin, a traditional healer who works in the Bujavu area of Goma.
Support from traditional healers like Faustin who have had training in how to recognise Ebola symptoms play an important role in containing the disease and in encouraging the community to take precautions. (more…)
As post-cyclone resettlement, 200 000 people lack access to health services in Mozambique
Maputo, 21 June 2019 – 94 health facilities damaged or destroyed by Cyclones Idai and Kenneth remain..
Maputo, 21 June 2019 – 94 health facilities damaged or destroyed by Cyclones Idai and Kenneth remain unsafe and 200 000 people who have been resettled live more than 5 km away from a functioning health facility, according to a recent Post-Disaster Needs Assessment and latest data.
“The ongoing relocation of families to new resettlement areas presents new challenges for access to heath,” said Dr Djamila Cabral, WHO Representative in Mozambique. “At the resettlement sites, there is limited access to essential health care, limited or no access to water and sanitary facilities. The fact that some health facilities remain damaged is a huge risk to health.”
Humanitarian partners continue supporting the population affected by Cyclone Idai in Mozambique shifting gradually from emergency to early recovery interventions. Urgent health priorities include delivery of basic health services for the affected population – especially at resettlement sites – building back better, strengthening surveillance and laboratory capacities.
Build back better with safe hospitals
With 14 per cent of the health infrastructure in the affected provinces damaged, there is an urgent need for construction of health facilities in districts that already had few health facilities and are now hosting resettled families.
Strengthen disease surveillance, response and laboratory capacity
Many communities in resettlement sites have no disease surveillance. There is need for health-facility based, event-based and community-based surveillance and to strengthen the national surveillance system to address acute vulnerability in the coming days and weeks.
There is also need to strengthen laboratory capacities at national and provincial levels and in health facilities to ensure timely processing of specimens.
Delivery of health services to affected population
Resumption of health service delivery is in progress with many challenges. Access to power is disrupting the immunization programmes cold chain; damaged infrastructure is a barrier to service delivery; and the settlement of population far from health facilities is overstretching the already weak health system. (more…)
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