Rare Disease News and Research

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Clinical study data on Mallinckrodt's H.P. Acthar Gel to be presented at ACR 2015

Mallinckrodt plc, a leading specialty biopharmaceutical company, today announced that data from a pilot study for its H.P. Acthar Gel (repository corticotropin injection) will be presented at the American College of Rheumatology 2015 Annual Meeting to be held November 7-11 in San Francisco.

8 Oct 2015

Claritas Genomics announces launch of Claritas Clinical Exome, novel diagnostic test

Claritas Genomics, Inc., announced the launch of its Claritas Clinical Exome, at the Annual Meeting of the American Society of Human Genetics running 10/6 – 10/10 in Baltimore, MD. This novel diagnostic test is the first to exploit the strengths of multiple DNA sequencing platforms simultaneously to deliver confirmed results for a patient’s clinical whole exome within 4 weeks, compared to the industry standard of 12 weeks or more. Patients with rare disease typically seek a diagnosis for 8-12 years, receiving 3-5 separate tests at a high cost.

7 Oct 2015

Invitae announces dramatic expansion of genetic testing menu

Invitae Corporation (NYSE: NVTA), a genetic information company, has announced that it has more than doubled the size of its genetic testing platform to include more than 600 genes and will begin releasing the new content between now and the end of the year. Invitae is immediately expanding its menu with dozens of new test panels for hereditary cancer, cardiovascular, neuromuscular, pediatric and other rare disorders.

7 Oct 2015

Genetic carrier screening: an interview with Don Hardison, CEO of Good Start Genetics

Carrier screening provides you and your doctor with information about your risks of having a child with a serious genetic disease prior to or during pregnancy.

6 Oct 2015

Novel computational strategy may help identify genetic variants that cause disease in children

The team behind the Deciphering Developmental Disorders (DDD) Study, one of the world's largest nationwide rare disease genome-wide sequencing initiatives, have developed a novel computational approach to identify genetic variants that cause disease in young children.

6 Oct 2015

Researchers discover five new genetic variants associated with brain cancer

The biggest ever study of DNA from people with glioma - the most common form of brain cancer - has discovered five new genetic variants associated with the disease.

1 Oct 2015

AMO Pharma raises $25 million in private equity financing

AMO Pharma Limited, a privately held biopharmaceutical company focusing on debilitating diseases with limited or no treatment options, announced today that the company has raised $25 million in private equity financing from Woodford Investment Management.

30 Sep 2015

GIOTRIF shows superior survival compared to Tarceva for patients previously treated with advanced squamous cell lung carcinoma

Boehringer Ingelheim today announced at the European Cancer Congress (ECC) in Vienna, Austria, new data from the Phase III LUX-Lung 8 trial which further highlights the benefits of afatinib compared to erlotinib for the treatment of patients with previously treated advanced SCC of the lung

29 Sep 2015

New report implicates five genetic regions that play major roles in CF disease severity

If you have two faulty copies of the CFTR gene, you will have cystic fibrosis. But the severity of your disease will depend on environmental factors and many other genes. Locating these genes and altering their function could lead to new therapies.

29 Sep 2015

Matchmaker Exchange platform launched for uncovering rare disease genes

In a special issue of Human Mutation, a team including investigators at Brigham and Women's Hospital has announced the launch of the Matchmaker Exchange - a way for the rare disease community to share information and find new connections. Matchmaker Exchange connects databases of genetic information and symptoms that physicians and investigators can "match" with a patient's rare disease.

25 Sep 2015

Pabetalone (RVX-208) to be tested in proof-of-concept pilot study in complement mediated diseases

Resverlogix Corp. announced today the commencement of an Orphan Disease Program specific for Complement Mediated Diseases. New data generated by Resverlogix has demonstrated that BET inhibition by apabetalone (RVX-208) has effects on multiple biological pathways that underlie disease pathology.

24 Sep 2015

Hermansky-Pudlak syndrome can cause debilitating lung disease in Puerto Ricans

A hereditary condition called Hermansky-Pudlak syndrome (HPS) can cause bleeding problems, low vision, albinism and, in some patients, a debilitating lung disease.

21 Sep 2015

CEVEC partners with Généthon to develop lentivirus packaging cell lines based on its CAP GT technology

CEVEC Pharmaceuticals GmbH, the expert in the production of tailor-made recombinant glycoproteins and gene therapy vectors, today announced a collaboration agreement with Généthon (Evry, France) for the development and exploitation of lentivirus packaging cell lines based on CEVEC’s proprietary CAP GT technology.

18 Sep 2015

WuXi NextCODE, CHFU partner to advance precision medicine in China

WuXi NextCODE, a precision medicine company using the genome to improve health worldwide, and the Children's Hospital of Fudan University, based in Shanghai and serving 2.3 million patients nationwide per year, today announced the signing of a landmark agreement for advancing precision medicine in China.

16 Sep 2015

BfArM approves Greenovation’s moss-aGal phase I clinical trial for Fabry disease

Greenovation Biotech GmbH announced today that it has received approval to begin a phase I clinical trial in Europe for its first drug candidate moss-aGal (agalsidase) from Germany's regulatory authority, the Federal Institute for Drugs and Medical Devices (BfArM).

15 Sep 2015

Professor Hawking to open inaugural Cambridge Rare Disease Summit on 14 September, 2015

Professor Hawking was famously diagnosed with the rare motor neuron disease at 21, and was told science had no answers. He has of course gone on to live a long and productive life, and the Cambridge Rare Disease Summit will discuss how to make this a reality for the 3.5 million other Britons who live with a rare disease.

11 Sep 2015

First patient dosed in long term-safety extension study of Resolaris for adult patients with FSHD

aTyr Pharma, Inc., a biotherapeutics company engaged in the discovery and development of Physiocrine-based therapeutics to address severe rare diseases, today announced that the first patient has been dosed in a newly initiated long term-safety extension study of Resolaris for adult patients with facioscapulohumeral muscular dystrophy (FSHD), a rare and severe genetic myopathy for which there are currently no approved treatments.

10 Sep 2015

CHAM, AECC receive $1.3 million NCI grant to advance more effective bone cancer treatments for children

The Children's Hospital at Montefiore and the NCI-designated Albert Einstein Cancer Center today announced receipt of $1.3 million grant from the National Cancer Institute, part of the National Institutes of Health.

9 Sep 2015

PTC Therapeutics announces recipients of STRIVE Awards

PTC Therapeutics, Inc. is pleased to announce five recipients of its first-ever global awards program, the STRIVE Awards (Strategies to Realize Innovation, Vision and Empowerment), designed to aid nonprofit organizations that are committed to serving the Duchenne muscular dystrophy (DMD) community.

4 Sep 2015

Huntington’s disease prevention breakthrough? An interview with Professor Lesley Jones

Huntington’s disease is an inherited disease which, whilst quite rare, is one of the more common inherited neurodegenerative diseases. About 1 in 6,000 people in the UK are at risk and what’s horrible about this disease is that if one of your parents has it, then you have a fifty-fifty chance of inheriting it.

2 Sep 2015