Rare Disease News and Research

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Patient with autistic behavior experiences improvements in mental health after liver transplant

A patient with a rare metabolic disease that causes liver failure and autistic behavior experienced significant improvements in both her physical and mental health after receiving a liver transplant, according to a new case report published in the American Journal of Transplantation.

12 Mar 2014

Longtime allies team up to create Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence

Three longtime allies have joined forces to create the new Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence.

7 Mar 2014

New web portal to speed discovery of genes responsible for rare disorders

A new web portal - called PhenomeCentral - is being launched today to connect clinicians and scientists worldwide in an effort to speed the discovery of genes responsible for rare disorders.

3 Mar 2014

Researchers find unusual mutation strongly linked to rare liver cancer that affects teens

In the race for better treatments and possible cures, rare diseases are often left behind. In a collaboration of researchers at The Rockefeller University, Memorial Sloan Kettering Cancer Center and the New York Genome Center (NYGC), an unusual mutation has been found that is strongly linked to one such disease: a rare liver cancer that affects teens and young adults.

3 Mar 2014

Teen diagnosed with liver cancer explores genetic link to rare cancers

A father-daughter scientific collaboration that began after the daughter was diagnosed with a rare liver cancer has led to an important finding and could have broader implications for many other rare cancers. Their story is being published this week in a top tier journal, Science.

3 Mar 2014

Bayer HealthCare joins NORD to promote awareness of Rare Disease Day

Bayer HealthCare is joining the National Organization for Rare Disorders (NORD) and others in raising awareness of Rare Disease Day, which is being celebrated today around the world.

3 Mar 2014

Global initiatives underscore shire's long-term commitment to rare disease community

Shire plc (LSE: SHP, NASDAQ: SHPG) today announced its support of Rare Disease Day and invites others to join them in its continued commitment to the rare disease community.

3 Mar 2014

Prothelia and University of Nevada, Reno enter into agreements with Alexion for development of Laminin-111

Prothelia Incorporated (Prothelia) and University of Nevada, Reno announce that they have entered into strategic agreements with Alexion for the development of Laminin-111, a patented experimental protein replacement therapy for merosin-deficient congenital muscular dystrophy (MDC1A), a life-threatening, ultra-rare disease caused by a genetic deficiency of the Laminin-211 protein.

26 Feb 2014

Researchers develop new compound that slows down progression of Huntington's Disease

Juliet Ross is suffering from Huntington's Disease, a rare neurological disorder that affects one in 10.000 people. Due to a genetic defect, her body produces a toxic protein that damages neurons in her brain.

26 Feb 2014

European Commission invests nearly $475 million in gene transfer and gene therapy projects

Over the past three funding stages, the European Commission has invested nearly $475 million in 100 projects in the gene transfer and gene therapy field.

25 Feb 2014

Policy statement suggests ways to improve drug safety and efficacy in children

With less than half of medications including specific labeling for children, Kathleen Neville, MD, MS, a physician at Children's Mercy Hospital, recently led an American Academy of Pediatrics (AAP) committee in updating the policy with new recommendations guiding the off-label use of drugs in pediatric patients.

24 Feb 2014

Researcher uses computational approach to speed up process of drug discovery

OIST researcher uses a computational approach in identifying proteins that will interact with potential drugs to speed up the process of drug discovery.

24 Feb 2014

Survey finds inconsistency in inpatient psychiatry services for youth at hospitals across Ontario

A first of its kind benchmarking survey was used to evaluate the state of inpatient psychiatry settings and services for youth at hospitals across Ontario, as published today in the Journal of the Canadian Academy of Child and Adolescent Psychiatry. On average, the province's services are comparable to other settings internationally, helping youth with the most severe and complex mental health problems, but also show similar signs of inconsistency across settings in the types and quality of inpatient care.

20 Feb 2014

Update Pharma's UPI-928 gets FDA orphan drug designation for AML treatment

Update Pharma Inc. today announced that the FDA has approved Orphan Drug Status for the use of UPI-928 for the treatment of Acute Myeloid Leukemia (AML).

18 Feb 2014

NPS Pharmaceuticals reports net global product sales of $15.3 million for Q4 2013

NPS Pharmaceuticals, Inc., a global biopharmaceutical company pioneering and delivering therapies that transform the lives of patients with rare diseases worldwide, today reported financial results for 2013 and its financial outlook for 2014.

18 Feb 2014

Prothelia, University of Nevada, Reno and Alexion partner to develop Laminin-111 for MDC1A

Prothelia Incorporated and University of Nevada, Reno announce that they have entered into strategic agreements with Alexion for the development of Laminin-111, a patented experimental protein replacement therapy for merosin-deficient congenital muscular dystrophy (MDC1A), a life-threatening, ultra-rare disease caused by a genetic deficiency of the Laminin-211 protein.

13 Feb 2014

Ligand Pharmaceuticals' total revenues for Q4 2013 increase 8% to $14.7 million

Ligand Pharmaceuticals Incorporated today reported financial results for the three and 12 months ended December 31, 2013, and provided an operating forecast and program updates.

11 Feb 2014

TV series House helps doctors diagnose Cobalt intoxication of patient with hip replacement

In today’s edition of The Lancet [Friday 7 February], doctors report the case of a patient with severe heart failure, who in May 2012 was referred to the Marburg University clinic in Germany.

10 Feb 2014

Longer looks: Doctor guilt; an abortion provider's hidden record

Okay, I know I'm a health writer, but I really don't like going to the doctor. Part of it is an unshakeable, irrational certainty that they will find something horribly wrong with me that I'd rather not know about, and part of it is a rational certainty that they will find something mildly wrong with me that is my fault and chastise me for it-;drinking too much, not exercising enough, whatever. One should be able to talk to one's doctor about these things-;the aspects of one's lifestyle that maybe aren't so great. ... But in 2009, a study by researchers at the University of California, San Diego found that half of the patients surveyed had experienced shame as a result of something a doctor said to them.

31 Jan 2014

Alexion Pharmaceuticals reports full year 2013 GAAP and non-GAAP financial results

Alexion Pharmaceuticals, Inc. today announced financial results for the quarter and year ended December 31, 2013. For the three months ended December 31, 2013, Alexion Pharmaceuticals, Inc. ("Alexion" or the "Company") reported net product sales of Soliris® (eculizumab) of $441.9 million, compared to $320.5 million for the same period in 2012.

30 Jan 2014

Rare Disease News and Research

Patient with autistic behavior experiences improvements in mental health after liver transplant

Longtime allies team up to create Penn Medicine/CHOP Friedreich's Ataxia Center of Excellence

New web portal to speed discovery of genes responsible for rare disorders

Researchers find unusual mutation strongly linked to rare liver cancer that affects teens

Teen diagnosed with liver cancer explores genetic link to rare cancers

Bayer HealthCare joins NORD to promote awareness of Rare Disease Day

Global initiatives underscore shire's long-term commitment to rare disease community

Prothelia and University of Nevada, Reno enter into agreements with Alexion for development of Laminin-111

Researchers develop new compound that slows down progression of Huntington's Disease

European Commission invests nearly $475 million in gene transfer and gene therapy projects

Policy statement suggests ways to improve drug safety and efficacy in children

Researcher uses computational approach to speed up process of drug discovery

Survey finds inconsistency in inpatient psychiatry services for youth at hospitals across Ontario

Update Pharma's UPI-928 gets FDA orphan drug designation for AML treatment

NPS Pharmaceuticals reports net global product sales of $15.3 million for Q4 2013

Prothelia, University of Nevada, Reno and Alexion partner to develop Laminin-111 for MDC1A

Ligand Pharmaceuticals' total revenues for Q4 2013 increase 8% to $14.7 million

TV series House helps doctors diagnose Cobalt intoxication of patient with hip replacement

Longer looks: Doctor guilt; an abortion provider's hidden record

Alexion Pharmaceuticals reports full year 2013 GAAP and non-GAAP financial results

Discover how SciY empowers scientists

Why use light scattering to analyze proteins and viral vectors?

Changing the landscape of R&D to build clinical success from the ground up

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