Wales’ first ever plan to tackle rare diseases is launched today.
It sets out the Welsh Government’s expectations of the NHS in Wales to treat rare diseases for people of all ages.
A rare disease is defined as a life-threatening or chronically debilitating disease, which affects five people or less per 10,000. They can range from life-limiting illnesses to manageable conditions, which do not affect daily living. There are around 150,000 people affected by such diseases in Wales.
Examples include Sickle Cell, which is a disease arising out of genetic problems, and Spina Bifida - a disease arising out of deficiencies or exposures to substances during pregnancy.
"This is the first time Wales has developed a plan to improve the experiences of people living with rare diseases and it brings together a number of recommendations designed to improve coordination of care and lead to better outcomes for people.
To this end, we are keen to see real partnership across services, agencies, and above all between individuals living with rare diseases, their carers, patient organisations and the NHS.
Patients with these conditions can suffer greatly and we are determined to provide the best care we can for them. I expect this plan to make a real difference."
A study of the modern red kite population in Wales has revealed a north/south genetic divide that runs along the Towy Valley.
This is one of the findings of a study of the genetic status of the red kite in Wales by Aberystwyth University postgraduate student Ilze Skujina.
The research was undertaken as part of a project to provide guidance on the long-term conservation of the red kite.
DNA was collected from feathers cast off by the birds.
The molecule acts like a bar-code and provides geneticists with information about the relations between populations and individuals.
I was not only able to reconfirm that the modern Welsh kite population still fall into a Northern and Southern groups (as had been detected in the 1980s using the single genetic fingerprint probe available at the time) but also detect a genetic difference between the older Central-Welsh and the relatively new Red kite population in Shropshire and Herefordshire
Detectives are using advances in DNA technology to try and identify human remains discovered in North Wales in the last 50 years.
Under Operation Orchid, officers say they hope to bring closure to families who have lived with uncertainty for a long time.
Criminality is not suspected in any of the cases.
One mystery dates back to January 1980, when female human remains were recovered from the sea 15 miles off Llandudno and were interred at a local cemetery.
Police inquiries with the National Missing Persons Bureau have identified a possible match with 39-year-old Priscilla Berry, possibly of the maiden name Sturgess.
She went missing from her home in Mochdre, Colwyn Bay, in June 1978.
It is now possible to link close family members such as siblings or children through DNA. If we can locate a brother, sister or child of Mrs Berry we can take a DNA sample to compare to the remains.
Although Mrs Berry went missing over 35 years ago, we believe it is still important for her family to know what became of their relative - and we will do all we can to help.
It is by no means certain that the remains are those of Mrs Berry, but the proposed tests should provide a definitive answer.
We are therefore appealing to anyone who is related to Priscilla Berry or knows any of her family members to contact North Wales Police.
Cardiff scientists are heading up a £16 million programme to detect, treat and prevent dementia.
They will lead the Medical Research Council's new UK Dementia Research Platform (UKDP).
It will examine not just what is going wrong in the brain but at the brain in the context of the whole body.
"We know that neurodegeneration can be linked to changes taking place in other parts of the body seemingly unrelated to the brain and many years before dementia is diagnosed."
Dr John Gallacher Cardiff University School of Medicine
UKPD brings together industry expertise and investigators from eight universities and teaming them with what they say will be the world's largest group of participants in dementia research (more than two million people)
Gold is traditionally regarded as chemically uninteresting because it doesn't react readily with other substances.
But researchers at Cardiff University's School of Chemistry say when broken down into nanoparticles, containing a few hundred atoms, it becomes incredibly reactive.
That makes it an efficient catalyst to speed up chemical and biological processes.
The scientists say they have discovered gold is the best catalyst for making the main ingredient for PVC and it could replace environmentally harmful mercury.
It's hoped using gold in catalysis could mean the better use of raw materials and the ability to generate fuels, plastics and other chemicals from renewables.
Natural Resources Wales (NRW) says more than 1,000 native white-clawed crayfish have been released into a Welsh river as part of continued efforts to save the species from extinction.
It's the third year NRW officers have captive reared and released the juvenile crayfish working in conjunction with the Wye and Usk Foundation.
The one-year-old crayfish were reared at Natural Resources Wales Cynrig Fish Culture Unit and have been released into specially selected ‘ark’ sites on a tributary of the River Irfon, near Builth Wells.
NRW says to date more than 2,700 captive reared crayfish have been released into the wild in a bid to offset the damage caused by the non-native American signal crayfish, climate change and the impact of pollution on habitat and water quality to the native crayfish population.
The discovery of new drugs and development of new treatments will form the basis for a new science network launching today. One of three, the life sciences and health network, based at Cardiff University will work on areas that have unmet medical need.
Another area to be looked at will be the growing needs of society, such as the need for food. The network will carry out research into the relationships between land, water, the provision of food and energy production.
The network is one of three Ser Cymru National Research Networks for Wales launching today. They are funded by £7m from the Welsh Government and are designed attract more scientific research business to the country.
One of three new science networks launching today will focus on materials and engineering. It aims to carry out research that could have applications in manufacturing.
One area of research for the network, based at Swansea University, will be solar technology. Different materials that could be used to coat buildings to harness solar energy, instead of using solar panels, are already being discussed.
Wales is to gain three new science networks. The Ser Cymru National Research Networks for Wales are the product of a £7m investment by the Welsh Government. They are designed to attract scientific research business and cover various disciplines from medicine, manufacturing, energy and food security.
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