Sentences with phrase «by rare diseases by»

The goal of CARE for RARE is to improve clinical care for patients and families affected by rare diseases by expanding and improving the diagnosis and treatment of rare diseases.

Not exact matches

And the company hopes the system can drastically improve the «diagnostic journeys» that those with rare diseases typically face: Such patients, on average, are seen by seven doctors before the correct diagnosis is made.

The price is for Spark Therapeutics» Luxturna, approved by the Food and Drug Administration in December to treat a rare, inherited retinal disease that can lead to blindness.

And a third, different kind of gene therapy from Spark Therapeutics — to treat a rare inherited form of blindness — is likely to be approved by the end of 2017, too, making this year a landmark for treatments that manipulate the body's own biological mechanisms in novel new ways to fight deadly diseases.

By bringing a drug that's been well - established as safe in other markets to the U.S. for the first time in order to treat a rare disease, the company doesn't just control its pricing destiny — it will also receive a coveted «priority review voucher» which it can hawk to another firm for tens (or even hundreds) of millions of dollars.

Our goal is to complement the current strategic interest of Chiesi Farmaceutici in the space of rare diseases by investing in early stage opportunities and accelerate the expansion of the Chiesi network in the US among universities, venture capital investors, rare disease patient organizations and start - ups developing treatments for rare diseases.

Bala Cynwyd, PA — January 31, 2017 — Chondrial Therapeutics, Inc., an emerging biotechnology company focused on the treatment of rare mitochondrial diseases, announced today that it has secured up to $ 22.6 million in Series A financing led by Deerfield Management and has appointed Carole Ben - Maimon, MD, as the company's president and chief executive officer.

«We are impressed by Pappas Capital's life science and venture expertise and the specific commitment that the firm has made to the area of rare diseases.»

Collectively, an estimated 30 million people are affected by a rare disease in Europe with a similar occurrence in the US.

Rare diseases are conditions affecting less than 200,000 people in the US and less than five (5) in 10,000 according to the definition adopted by the European Medicines Agency.

Chiesi Ventures is unique in its focus: improving quality of diagnosis, disease management, care and therapy to all patients affected by rare diseases.

Shire's focus on rare diseases paid off with growth in the first quarter driven by product sales in haematology and immunology

(Reuters)- Alnylam Pharmaceuticals Inc's RNAi - based drug that targets a rare genetic disease met the main goal of a key study, in a breakthrough for the new class of medicines that works by blocking disease - causing proteins.

Yet there are rare circumstances where one partner or the otiter is rendered sexually incompetent by physical disease, accident, or by mental illness, so that the remaining partner is forced to choose between abstinence and the violation of the sacred bond of marriage.

Engardio helps viewers to get past the joke by following the stories of two men: one an aged survivor of the Holocaust and one a 20 - something with a rare disease.

Centers for Disease Control and Prevention investigations linked consumption of Nakaochi scrape sushi to about 250 diagnosed cases and an estimated 6,000 or so undiagnosed cases of illness caused by two rare strains of salmonella.

Though it is rare in preschool children and usually occurs in adolescence and adulthood, up to 35 % of children between the ages of 3 to 5 have some form of gingivitis, a periodontal disease that is caused by inflammation or infection of periodontal tissue.

By Jillian Lauren Would you walk up to a pregnant woman and tell her about your friend's cousin's daughter whose infant died of a rare disease, offer her the unsolicited tale of your hairdresser's daughter's home birth gone wrong, tell her about every mother you know visiting her teenager in rehab, etc.?

Approximately 175000 cancer cases are diagnosed annually in children younger than age 15 years worldwide, 1 with an annual increase of around 0.9 % in incidence rate in the developed world, only partly explained by improved diagnosis and reporting.1, 2 Childhood cancer is rare and its survival rate has increased significantly over the years owing to advancement in treatment technologies; however, it is still a leading cause of death among children and adolescents in developed countries, ranking second among children aged 1 to 14 years in the United States, surpassed only by accidents.1, 3 Childhood cancer is also emerging as a major cause of death in the last few years in Asia, Central and South America, Northwest Africa, and the Middle East, where death rates from preventable communicable diseases are declining.2

The Centers for Disease Control recommends using hot water to make formula in order to avoid the risk of infection by rare but deadly bacteria called Cronobacter that has been found in powdered formula.

Even the present suffering from a rare ear disease known as Meniere's disease by President Muhammadu Buhari will not win any sympathy to save our action against the federal government.

Both of New York's U.S. senators traveled upstate last month to voice support for efforts to address Lyme disease and other illnesses spread by deer ticks, including Powassan virus, a rare disease that has infected three Saratoga County residents this year, killing one of them.

Money for asbestos - related research is hard to come by, court documents noted, because the disease is rare and survival rates are low.

Over the past two months, three people within a one - block radius of the apartment have developed leptospirosis, a rare disease spread by rat urine.

The city Buildings Department has uncovered eight illegal apartments in the basement of 750 Grand Concourse in The Bronx — where one tenant was stricken by a rare rat - borne disease...

The results infuriated residents and was questioned by some experts who said the analysis was misleading and too limited to accurately show any link between rare forms of the disease in residents who drank contaminated water.

Both of New York's senators traveled upstate last month to voice support for efforts to address Lyme disease and other illnesses spread by deer ticks, including Powassan virus, a rare disease that has infected three Saratoga County residents this year, killing one of them.

In December, the Times Union reported many residents in the village and town believe their community has been afflicted by rare and aggressive forms of cancer and thyroid disease.

The study identified yet another mutation — albeit a rare one — in the SCARB1 gene, also associated with elevated HDL levels, that raised coronary heart disease risk by a whopping 80 percent.

A rare genetic disease leaves its victims debilitated by transforming soft tissue cells into bone cells, creating a strange second skeleton.

Demonstrating the potential of precision health, a team led by a researcher at the Stanford University School of Medicine has matched existing drugs to errant proteins expressed by patients with a rare eye disease.

Also, because PSP is a rare disease, clinical trials for this condition are eligible for incentives that could enable faster drug approval by the U.S. Food and Drug Administration and European Medicines Agency.

IN A rare instance of humans beating one of the impacts of climate change, measures to combat malaria appear to be neutralising the expected global increase of the disease driven by rising temperatures.

Beyond PSP, other brain diseases are also marked by abnormal tau clumps — among them a rare movement disorder called corticobasal degeneration, an inherited form of frontotemporal dementia with Parkinson's - like features, and Alzheimer's disease.

The children and adults travel from as far as Australia, Africa and Mongolia to see her, because she is one of the few dermatologists in the world who specializes in the rare and perplexing genetic disease that causes their skin to be disfigured by redness and dark scales across their entire bodies.

It was previously shown by others that a rare disease called generalized pustular psoriasis (in which the skin erupts into pustules) was caused by a genetic mutation that resulted in unrestrained activity of a protein normally produced in our skin, called IL - 36.

These programs, which were discussed last month at a rare - diseases conference hosted by the Wellcome Trust Sanger Institute near Cambridge, UK, aim to provide a genetic diagnosis that could end years of uncertainty about a child's disability.

For now, the only diseases clearly caused by shortened telomeres or dysfunctional telomerase are rare premature aging disorders like dyskeratosis congenita.

LCA is a rare inherited eye disease that destroys vision by killing photoreceptors — light - sensitive cells in the retina at the back of the eye.

Despite being classified as rare disease, public awareness is very high, fueled by celebrity patients like Stephen Hawking and culminating in last years» Ice Bucket Challenge, the first charity campaign with global impact.

In some cases, the conditions highlighted by ACMG are rare and have been studied in just a few families in which many members have the disease.

All were supplied by Reproductive Genetics Institute (RGI) in Chicago, Illinois, which specializes in helping couples who carry genes for rare diseases create healthy embryos that can then be implanted.

A 20 - something's trek through Europe followed by a bad sore throat and inflammation add up to a rare twist on a common infectious disease.

People well past their reproductive years could add value to their tribe by remembering early warning signs of rare phenomena, such as drought, locusts, and disease.

By characterising the DNA sequence of these individuals, the project gained insight into the contribution of rare variants to a broad range of disease scenarios, and discovered new genetic variants and genes underpinning disease risk.

A team led by researchers at the National Institutes of Health has overcome a major biological hurdle in an effort to find improved treatments for patients with a rare disease called methylmalonic acidemia (MMA).

Myelofibrosis is a rare disease of the bone marrow, in which the bone marrow is replaced by connective tissue.

Because all NETS are classified as rare diseases by regulatory authorities in the EU and the US, there are few drugs available to treat these patients.

Researchers developed a new type of cell transplantation to treat mice mimicking a rare lung disease that one day could be used to treat this and other human lung diseases caused by dysfunctional immune cells.

«So by definition, most childhood diseases are rare,» says Danny Benjamin, a professor of pediatrics at the Duke University School of Medicine.