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A guide to Severe Combined Immunodeficiency Disease, review released

A new review published today in the Canadian Medical Association Journal provides guidance on Severe Combined Immunodeficiency Disease (SCID), a deadly and rare disease that is potentially curable if detected early.

18 Dec 2017

New review provides guidance to doctors who may treat infants with ‘bubble boy disease’

A new review provides guidance on a deadly, but rare, disease that is potentially curable if identified early. Severe combined immunodeficiency disease (SCID), known as the "bubble boy disease" in the 1970s, is treatable with a stem cell transplant, gene therapy and other treatments if identified at birth or soon after.

18 Dec 2017

Experts tell Congress how to cut drug prices

The nation's most influential science advisory group will tell Congress today that the U.S. pharmaceutical market is not sustainable and needs to change.

12 Dec 2017

Patients with rare diseases and congress square off over orphan drug tax credits

As President Donald Trump talked tax reform on Capitol Hill Tuesday, Arkansas patient advocate Andrea Taylor was also meeting with lawmakers and asking them to save a corporate tax credit for rare disease drug companies.

30 Nov 2017

New molecular taxonomy may lead to precision-medicine treatments for hair disorders

Two decades ago, oncologists realized that molecular biologists could see medically important differences between tumors that looked identical to pathologists.

28 Nov 2017

New initiative aims to improve chances of medicines receiving positive HTA decisions

A unique initiative launched today by muscular dystrophy charity Duchenne UK is set to radically simplify the way necessary evidence is generated for submissions made to health technology appraisals bodies such as the National Institute for Health and Care Excellence and the Haute Autorité de Santé.

22 Nov 2017

FDA approves new drug to treat bleeding in hemophilia A patients

The U.S. Food and Drug Administration today approved Hemlibra (emicizumab-kxwh) to prevent or reduce the frequency of bleeding episodes in adult and pediatric patients with hemophilia A who have developed antibodies called Factor VIII (FVIII) inhibitors.

17 Nov 2017

FDA approves drug to treat pediatric, adult patients with rare Sly syndrome

The U.S. Food and Drug Administration today approved Mepsevii (vestronidase alfa-vjbk) to treat pediatric and adult patients with an inherited metabolic condition called mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome. MPS VII is an extremely rare, progressive condition that affects most tissues and organs.

15 Nov 2017

Study finds lack of follow-up care for more than two-thirds of children with concussion

In a study that looked at data over a 10-year period, York University researchers, in collaboration with Children's Hospital of Eastern Ontario and the Institute for Clinical Evaluative Sciences, found that more than two-thirds of youth and children with an acute concussion do not seek medical follow-up or clearance as recommended by current international concussion guidelines.

15 Nov 2017

Researchers discover mechanism behind skin inflammation in eczema

Publishing online this week in Cell Host & Microbe, researchers at Johns Hopkins report the discovery of a key underlying immune mechanism that explains why to how our skin becomes inflamed from conditions such as atopic dermatitis, more commonly known as eczema. Toxin-producing bacteria on the surface of our skin induces a protein that causes our own cells to react and cause inflammation.

8 Nov 2017

New gene therapy trial for X-linked myotubular myopathy offers hope to children

Ann & Robert H. Lurie Children's Hospital of Chicago is one of the few centers participating in ASPIRO, an international Phase 1/2 clinical trial of a gene therapy product called AT132 for X-linked myotubular myopathy – a rare disease characterized by severe muscle weakness, breathing difficulty and early death.

8 Nov 2017

SLU researcher reports success in identifying new drug targets for muscular dystrophy

In a recent paper published in the journal Skeletal Muscle, a Saint Louis University researcher reports success in identifying new drug targets that potentially could slow or halt the progression of a form muscular dystrophy, an illness characterized by progressive muscle degeneration.

7 Nov 2017

FDA grants approval to first treatment for rare blood cancer

The U.S. Food and Drug Administration today expanded the approval of Zelboraf (vemurafenib) to include the treatment of certain adult patients with Erdheim-Chester Disease (ECD), a rare cancer of the blood.

7 Nov 2017

FDA approves new drug Zelboraf for Erdheim-Chester disease

The United States Food and Drugs Administration (FDA) has approved Zelboraf (vemurafenib), a drug for the treatment of adults with a are type of blood cancer called Erdheim-Chester Disease or ECD.

6 Nov 2017

House Republicans aim to yank tax credits for orphan drugs

As part of a sweeping tax reform bill, House Republicans on Thursday proposed eliminating billions of dollars in corporate tax credits that have played a key role in the booming "orphan drug" industry.

2 Nov 2017

FDA grants accelerated approval to new treatment for mantle cell lymphoma

The U.S. Food and Drug Administration today granted accelerated approval to Calquence (acalabrutinib) for the treatment of adults with mantle cell lymphoma who have received at least one prior therapy.

1 Nov 2017

HPV vaccination and screening combination can decrease cancer risk by more than 90%

Every year there are around 400 new cases of cervical cancer and a total of approximately 800 cancers associated with HPV (human papilloma virus). Two measures could reverse this trend: the nonavalent HPV vaccination co-developed at MedUni Vienna's Department of Obstetrics and Gynecology under the supervision of Elmar Joura and HPV screening by means of smear tests as secondary prevention.

30 Oct 2017

Biogen and Ionis awarded 2017 Prix Galien USA Award for SPINRAZA

Biogen and Ionis have been awarded the prestigious 2017 Prix Galien USA Award for Best Biotechnology Product for SPINRAZA (nusinersen). The Prix Galien USA Award recognizes extraordinary achievement in scientific innovation that improves the state of human health. The award was presented at a ceremony in New York City on October 26, 2017.

30 Oct 2017

Key features that distinguish Brittle Type 1 Diabetes from stable T1D

Brittle Type 1 Diabetes (BT1D) is listed by the National Institutes of Health as a rare disease impacting some 4500 people in the USA. It is defined as a severe instability of blood glucose (BG) levels, whatever its cause, with frequent and unpredictable episodes of hypoglycemia (low) and or hyperglycemia (high sugars) that disrupts quality of life.

27 Oct 2017

WHO helps contain Marburg virus disease outbreak on Uganda-Kenya border

The World Health Organization is working to contain an outbreak of Marburg virus disease (MVD) that has appeared in eastern Uganda on the border with Kenya.

24 Oct 2017