Rare Disease News and Research

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FDA awards research grants to boost product development for patients with rare diseases

The U.S. Food and Drug Administration today announced it has awarded 18 new research grants totaling more than $19 million to boost the development of products for patients with rare diseases, which affect the lives of nearly 30 million Americans.

11 Oct 2015

Xuriden (uridine triacetate) now approved for patients with hereditary orotic aciduria

Today, the U.S. Food and Drug Administration approved Xuriden (uridine triacetate), the first FDA-approved treatment for patients with hereditary orotic aciduria. Hereditary orotic aciduria is a rare metabolic disorder, which has been reported in approximately 20 patients worldwide.

9 Oct 2015

FDA approves Promacta to treat pediatric patients with chronic immune thrombocytopenic purpura

The U.S. Food and Drug Administration today approved Promacta (eltrombopag) to treat low blood platelet count in pediatric patients – ages one year and older – with a rare blood disorder called chronic immune thrombocytopenic purpura (ITP). Promacta can be used in these children when they have not achieved an appropriate response using other ITP medicines or surgery to remove the spleen.

9 Oct 2015

Light-chain amyloidosis patients treated with high-dose chemo and stem cell transplantation have long-term survival

Patients with Light-chain (AL) amyloidosis who are treated with high-dose chemotherapy (melphalan) and autologous (one's own) stem cell transplantation (HDM/SCT) have the greatest success for long-term survival.

9 Oct 2015

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

Rare Disease News and Research

FDA awards research grants to boost product development for patients with rare diseases

Xuriden (uridine triacetate) now approved for patients with hereditary orotic aciduria

FDA approves Promacta to treat pediatric patients with chronic immune thrombocytopenic purpura

Light-chain amyloidosis patients treated with high-dose chemo and stem cell transplantation have long-term survival

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

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

Invitae announces dramatic expansion of genetic testing menu

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

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

Researchers discover five new genetic variants associated with brain cancer

AMO Pharma raises $25 million in private equity financing

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

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

Matchmaker Exchange platform launched for uncovering rare disease genes

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

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

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

WuXi NextCODE, CHFU partner to advance precision medicine in China

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

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

Revolutionizing Life Science: An Interview with SCIEX on ASMS, the SCIEX 7500+ System, and AI-Driven Quantitation

From Discovery Biology to ELRIG Chair

Breathing New Life into Diagnostics: Plasmion's SICRIT Technology

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