Sentences with phrase «by a rare disease in»

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

Not exact matches

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.

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.

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.

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.

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 diseasIn 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 diseasin 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.

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.

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.

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

Cystic fibrosis is a rare inherited disease caused by mutations in a single gene called cystic fibrosis transmembrane conductance regulator (CFTR) and affects 1 in every 2500 newborns in the UK and over 90000 people worldwide.

Traditionally, diabetes has been grouped into the rarer type 1 disease, which most often appears in childhood when the pancreas stops producing insulin; and type 2, which is characterized by the body's failure to respond to insulin and most often attributed to being overweight.

Prader - Willi syndrome (PWS) is a rare genetic disease characterized by hyperphagia — a chronic feeling of hunger that, coupled with a metabolism that utilizes drastically fewer calories than normal, often leads to excessive eating and obesity in patients with the disease.

Pulmonary hypertension is rare — with only about 15 to 50 cases per million people — but the total number of deaths attributed to the disease increased by more than 40 percent in the U.S. between 1980 and 2002, according to the Centers for Disease Control and Prevdisease increased by more than 40 percent in the U.S. between 1980 and 2002, according to the Centers for Disease Control and PrevDisease Control and Prevention.

Three will hunt for mutations underlying rare inherited diseases caused by a glitch in a single gene.

A promising treatment for a rare childhood disorder characterized by rapid aging and death prevented and even reversed the most devastating effect of the disease in mice.

This is the case of mitochondrial disease, a rare condition caused by defects in the «cellular powerhouse.»

As a new generation of gene therapy clinical trials shows promise to cure or halt the progression of several rare diseases, the time has come to explore ways to pay for the cutting edge treatments, a pediatric hematologist - oncologist from Dana - Farber / Boston Children's Cancer and Blood Disorders Center argues in a commentary published by the journal Science.

DMD is a rare disease affecting primarily boys and is caused by defects in the gene that makes the dystrophin protein.

Noting the potential of gene therapy to be a one - time treatment for rare and serious diseases that otherwise cost hundreds of thousands, if not millions, of dollars in chronic care over a lifetime, Stuart Orkin, MD, and co-author Philip Reilly, MD, JD, of Third Rock Ventures, seek to «catalyze the discussion» by suggesting several new models for valuing, pricing and developing gene therapy.

The recent ability to peer into the brain of living individuals with a rare type of language dementia, primary progressive aphasia (PPA), provides important new insights into the beginning stages of this disease — which results in language loss — when it is caused by a buildup of a toxic protein found in Alzheimer's disease.

The babies are all suffering from a rare hereditary disease called Hurler's syndrome, caused by a defect in the gene that produces the enzyme.

Megalencephalic leukoencephalopathy (MLC), caused by mutations in MLC1 and GlialCAM, is a rare disease that entails this type of vacuoles.

In reality, those diseases are probably caused by a wide variety of extremely rare mutations that vary from one person to the next, complicating efforts to understand and treat them at the genetic level.

This rare and deadly disease mainly affects young women, and is characterized by very high pressure in the arteries supplying blood to the lungs.

Columbia University Medical Center (CUMC) scientists have identified new genetic mutations that can cause pulmonary arterial hypertension (PAH), a rare fatal disease characterized by high blood pressure in the lungs.

UCLA researchers led by Drs. Peiyee Lee and Richard Gatti at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have used induced pluripotent stem cells (iPSC) to advance disease - in - a-dish modeling of a rare genetic disorder, Ataxia Telangiectasia (A-T).

Drugs capable of activating silenced genes improve survival and growth outcomes in a mouse model of Prader - Willi syndrome (PWS), a rare and incurable childhood disease, according to a study funded by the National Institutes of Health (NIH).

And a prominent CEO in the rare disease field stepped into Trump's high powered spotlight to urge a change in the way the agency handles orphan drugs while making a pitch for a speedy reversal of a painful setback handed to him by regulators last year.

Investigating mouse models for biological for research The congress aims to promote the International Mouse Phenotyping Consortium (IMPC) mouse lines, importance of mouse phenotyping & clinical and drug discovery collaboration, to present progresses performed by IMPC with regards CRISPR editing genome, rare diseases, microbiota and ageing pipeline, as well as illustration of examples of scientific projects about «Animal models for human diseases» and recent developments in mouse models phenotyping imaging.

The Policies and Guidelines, ratified by IRDiRC members for implementation in their respective rare disease research programs, are structured around 11 major topics: data sharing and standards, ontologies, diagnostics, biomarkers, patient registries, biobanks, natural histories, therapeutics, model systems, publication and intellectual property, and communications.

In his graduate research, Linsley discovered the gene Stac3 is a component of the excitation - contraction machinery in skeletal muscle and the mechanism by which mutations in that gene cause Native American Myopathy, a rare but devastating congenital diseasIn his graduate research, Linsley discovered the gene Stac3 is a component of the excitation - contraction machinery in skeletal muscle and the mechanism by which mutations in that gene cause Native American Myopathy, a rare but devastating congenital diseasin skeletal muscle and the mechanism by which mutations in that gene cause Native American Myopathy, a rare but devastating congenital diseasin that gene cause Native American Myopathy, a rare but devastating congenital disease.