List of rare diseases in Ireland

List of rare diseases in Ireland

On a beautiful sunny 3rd March, over 100 people gathered at Stormont, Belfast for our second annual Rare Disease Day event in Northern Ireland and the national launch of our report Improving Lives, Optimising Resources: A Vision for the UK Rare Disease…

Rare disease Associations

Rare disease Associations

What is a national alliance? National Alliances federate patient organisations from a wide range of diseases within their particular country. National alliances exist in many, but not all, European countries. The characteristics and activities of each…

Rare infectious diseases list

Rare infectious diseases list

Aside from the more common ailments that may affect us or our loved ones, and garner the attention of the press or charities, there are a lot of other ways out there to get sick and die. Maybe it s a virus, or it could be a genetic disorder. In any event…

List of rare genetic disorders

List of rare genetic disorders

© 2002 Courtesy of Jeffrey C. Murray, MD, University of Iowa. All rights reserved. Studies of single-gene diseases in humans have led to many completely unexpected findings. One such example is the discovery of trinucleotide repeat expansions and their…

Rare diseases list Australia

Rare diseases list Australia

Kiaana Brown with her mum Alicia Source: The Advertiser Charlotte Elliott with her dad Mark. Source: The Advertiser THE almost 1.5 million Australians who live with a rare disease want a better deal after years falling through the cracks in a health system…

Rare heart diseases in Infant

Rare heart diseases in Infant

A tiny newborn in the U.K. is being kept alive by a machine as doctors wait for an organ small enough to perform a lifesaving heart transplant. Twelve-day-old Tiarna Gray was born with hypoplastic right heart syndrome (HRHS), a rare heart defect. Her…

Herbs for rare diseases

Herbs for rare diseases

Life has a way of being unpredictable. It would be wonderful if we could always choose the road we want to go down, but sometimes it is chosen for you. Thus was the case when my daughter was diagnosed with Hereditary Spastic Paraplegia, a rare disease…

Rare bone diseases list

Rare bone diseases list

What is Bone disease? bone disease is a condition that damages the skeleton and makes bone feeble and prone to fractures. Weak bones are not a natural part of aging. While strong bones begin in childhood, persons of all ages can advance their bone health…

Rare disorders of the cerebellum

Rare disorders of the cerebellum

Some congenital defects (defects present at birth), are inherited from the parents, while others are caused by environmental factors in the womb, such as nutritional deficiencies or some viral infections. For many, the cause is unknown. Puppies are born…

Rare disease Day San Diego

Rare disease Day San Diego

By Nancy Werner September 19, 2014 (San Diego)-Most people familiar with drug research think of Boston as the center for leading drug research, but San Diego leads in research and development into RNA therapies and treatments that bring hope for patients…

Weird rare diseases list

Weird rare diseases list

Enter your requested disease name, gene symbol, or code depending on your selection in the query zone and click OK to validate. You may use truncated names. A list of all diseases or genes matching your query will appear. Select the one of interest to…

Rare muscle diseases list

Rare muscle diseases list

Because these diseases are rare, many people with metabolic disorders of muscle have to spend some time figuring out what is causing their muscle weakness, myoglobinuria or other symptoms. But it s important to get an accurate diagnosis of a specific…

Rare diseases website Registry

Rare diseases website Registry

A new EURORDIS book, The Voice of Rare Disease Patients: Experiences and Expectations of over 3, Patients on Rare Disease Patient Registries in Europe presents the results of an extensive consultation process including a survey of over 3, European patients…

List of rare contagious diseases

List of rare contagious diseases

The process for keeping passengers with contagious diseases off commercial flights makes it very difficult for infected fliers to get on a plane, the CDC says. Hertz has begun to use a biodegradable spray solution that is wiped off with… (David Goldman…

Rare cardiac diseases list

Rare cardiac diseases list

Photo Credit Photodisc/Photodisc/Getty Images Genetic diseases of the heart are those that are caused by a mutation in one or more genes that affect the structure or function of the heart muscle. Many of these diseases are rare, inherited only when one…

Muscle diseases rare

Muscle diseases rare

Bethesda, Md. , Mon., Sept. 24, 2012 - Last week, researchers launched a Phase I clinical trial to evaluate the drug candidate DEX-M74 as a treatment for patients suffering from Hereditary Inclusion Body Myopathy (HIBM), a rare degenerative muscle disease…

Rare pancreatic disorders

Rare pancreatic disorders

The relationship between the pancreas and diabetes was established when Minkowski performed a pancreatectomy in the dog in 1889. Early clinicians distinguished between pancreatic diabetes, due to obvious pancreatic disease, and the much more common…

Rare non infectious diseases list

Rare non infectious diseases list

Photo Credit Jupiterimages/BananaStock/Getty Images Diseases can cause a number of symptoms to any part of the body. Communicable diseases are ones that are spread by an infection when you come in contact with someone who has it. Noninfectious diseases…

Rare metabolic disorders in newborns

Rare metabolic disorders in newborns

Watching Christopher Harry whack a baseball with a bright orange, plastic bat or hearing him pound a syncopated beat on a small drum, you d never guess that the energetic 4-year-old has a rare metabolic disorder. Long-chain 3-hydroxyacyl-CoA dehydrogenase…

Rare diseases symptoms list

Rare diseases symptoms list

The two most common inherited liver diseases are hemochromatosis and alpha-1 . Hemochromatosis Hemochromatosis is a disease in which deposits of iron collect in the liver and other organs. The primary form of this disease is one of the most common inherited…

World rare diseases list

World rare diseases list

The event went better than we had expected it to, considering it was the first of its kind in Pakistan. We got a very good response and local Pakistani celebrities also picked up on the event trend and wore their jeans for the day. I think that whether…

Rare and fatal diseases list

Rare and fatal diseases list

Some diseases are very deadly to the brain tissues. Photo Credit Many different things can affect brain function, from infection, to trauma, to metabolic imbalances, but only a few of them are deadly. Most of these deadly diseases are equal opportunity…

Rare diseases Research Network

Rare diseases Research Network

Rare Disease Day at NIH On February 28, 2014, the National Institutes of Health (NIH) celebrated the seventh annual Rare Disease Day with a day-long celebration and recognition of the various rare diseases research activities supported by the NIH Office…

Office of rare diseases list

Office of rare diseases list

A rare disease, here in the United States, is one that affects fewer than 200, people. Back in 1995, IA was estimated to affect about 1 in 10, patients, which would work out to about 30, 700 people, based on the current US population. Other studies…