Tuesday, 27 June, 2017

Bilirakis Files Bill to Encourage New Treatments for Rare Diseases

Rare Disease Day Here's why quality research matters Image credit
Tracy Craig | 01 March, 2017, 00:43

As presented at the American Society of Human Genetics (ASHG) last October, "NUBPL Mutations Link Parkinson's Disease and other Movement Disorders to Recessive Complex I Deficiency", the research describes PB's discovery that some Parkinson's disease patients carry mutations in the NUBPL gene, which is known to cause an ultra-rare mitochondrial disorder in children called Complex I Deficiency (CID).

While the more prevalent diseases such as cancer, heart disease, and stroke understandably take precedence in science's "things to do list", it's crucial these millions of people with rarer diseases don't get left behind.

Rare diseases were equally prevalent in both developed and under-developed countries an equal opportunistic disease, the organisation said.

"Lack of awareness and scientific knowledge often leads to misdiagnosis or late diagnosis and delayed treatment". For more than 30 years, NORD has led the way in voicing the needs of the rare disease community, driving supportive policies and education, advancing medical research, and providing patient and family services for those who need them most.

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Singer Demi Lovato arrives at the 58th Grammy Awards in Los Angeles, California in this file picture taken on February 15, 2016. Pop star Demi Lovato was hit by a firestorm of haters on Twitter after sharing the results of a DNA ancestry test on Friday.

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Also assessed in the drills was the "telemedicine" medical assistance provision system, which enables remote medical diagnosis. President Trump has put Iran "on notice", and officials have said they will not take military action off the table.

The CNV Beacon platform can discern subtypes of common diseases such as Parkinson's and Alzheimer's and show that they are actually an amalgam of rare diseases masquerading as one disease. ORDI recently held a public event Race for 7 to raise awareness for rare diseases.

On the occasion of "World Rare Disease Day" here on Tuesday, the IORD members said that there were more than 7,000 rare diseases known today and a majority of them were due to genetic defects.

ISCR said research can lead to the identification of previously unknown diseases, can increase understanding of diseases, enable doctors to give a correct diagnosis, lead to the development of new innovative treatments and even reduce costs for healthcare systems and improve the quality of life of patients and their families. As part of the campaign, which will run until March 6, the agency has wrapped the inside and outside of a train auto on the Massachusetts Bay Transportation Authority (MBTA) Red Line with facts about rare diseases and zebra stripe branding.

This year's theme for Rare Disease Day, which is to be observed on February 28th, is "research", and slogan is "With research, possibilities are limitless".

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