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Calcium controls use of glucose by T cells to multiply and battle against infection, study finds

A calcium signal controls whether immune cells can use the nutrients needed to fuel their multiplication into a cellular army designed to fight invading viruses.

11 Oct 2017

Five new ways individualized medicine has moved from research lab into clinical care

Advancements in individualized medicine are offering health care providers new tools to quickly and accurately diagnose, treat, predict and, eventually, prevent disease. Keith Stewart, M.B., Ch.B., Carlson and Nelson Endowed Director, Mayo Clinic Center for Individualized Medicine, today outlined five new ways individualized medicine has moved from the research lab into clinical care. Dr. Stewart made his statements during the opening of the 2017 "Individualizing Medicine Conference: Advancing Care Through Genomics" in Rochester.

9 Oct 2017

Study to determine lowest dose of chemotherapy needed for babies with SCID

Michael Pulsipher, MD, of the Children's Center for Cancer and Blood Diseases at Children's Hospital Los Angeles, along with co-principal investigator, Sung-Yun Pai, MD, of Boston Children's Hospital, has been awarded nearly $9 million from the National Institute of Allergy and Infectious Diseases of the NIH to study a new treatment approach for babies born with severe combined immunodeficiency (SCID) which prevents the immune system from functioning normally.

6 Oct 2017

First-ever treatment for Merkel cell carcinoma receives approval in Japan

Merck KGaA, Darmstadt, Germany, and Pfizer Inc. today announced that the Japanese Ministry of Health, Labor, and Welfare (MHLW) has approved BAVENCIO (avelumab, genetically recombinant Injection 200mg/mL for intravenous use) as the first and only treatment indicated for curatively unresectable Merkel cell carcinoma (MCC), a rare and aggressive cancer, in Japan.

27 Sep 2017

New syndrome caused by biallelic mutations predisposes the body to tumors

A new syndrome caused by biallelic mutations - those produced in both gene copies inherited from the mother and father - in the FANCM gene predisposes the body to the appearance of tumours and causes rejection to chemotherapy treatments.

22 Sep 2017

New tissue-chip research aims to speed drug development for two genetic forms of epilepsy

An interdisciplinary team of Vanderbilt University researchers has received a two-year, $2-million federal grant to develop an "organ-on-chip" model for two genetic forms of epilepsy. These disorders affect both brain and heart and improved modeling could lead to new drug treatments.

22 Sep 2017

New sickle cell disease poll dispels long-held perceptions of African Americans

Pfizer Inc., the National Newspaper Publishers Association, and scholars from Howard University today announced results from a new national poll designed to deepen understanding and gauge perceptions around sickle cell disease (SCD) among African Americans.

21 Sep 2017

Researchers precisely describe effects of frequent genetic mutation in congenital hyperinsulinism

Diabetes is characterized by a deficiency of insulin. The opposite is the case in congenital hyperinsulinism: patients produce the hormone too frequently and in excessive quantities, even if they haven't eaten any carbohydrates.

18 Sep 2017

Without price breaks, rural hospitals struggle to stock costly, lifesaving drugs

Hospital pharmacist Mandy Langston remembers when Lulabelle Berry arrived at Stone County Medical Center's emergency department last year.

18 Sep 2017

FDA grants accelerated approval to new drug for treating relapsed follicular lymphoma

The U.S. Food and Drug Administration today granted accelerated approval to Aliqopa (copanlisib) for the treatment of adults with relapsed follicular lymphoma who have received at least two prior treatments known as systemic therapies.

14 Sep 2017

FDA moves to guard against abuse of ‘orphan drug’ program

The Food and Drug Administration is changing the way it approves medicines known as "orphan drugs" after revelations that drugmakers may be abusing a law intended to help patients with rare diseases.

13 Sep 2017

Wearable technology launched by egg health allows first person patient insight

egg health innovations (previously part of Virgo Health) has launched a new wearable technology product which provides a fully immersive, first person patient insight experience. Named “Virtual Mile” it allows someone to authentically understand another person by experiencing the world from a virtual first person vantage point, conceived from a need to capture greater insights in sensitive conditions and rare diseases.

13 Sep 2017

Insmed reports top-line data from Phase 3 study of new treatment in patients with NTM lung disease

Insmed Incorporated, a global biopharmaceutical company focused on the unmet needs of patients with rare diseases, today announced top-line data from its Phase 3 CONVERT study.

13 Sep 2017

PCORI Board awards $18 million for two new studies on sickle cell disease

The Patient-Centered Outcomes Research Institute Board of Governors today approved about $18 million to fund two studies comparing different ways to manage the transition of people with sickle cell disease from pediatric to adult care.

13 Sep 2017

NIH awards $15 million to develop 3D microphysiological system platforms that model human disease

More than 60 percent of investigational drugs fail in human clinical trials due to a lack of effectiveness, despite promising pre-clinical studies using cell and animal research models.

13 Sep 2017

Generation Genome: the UK’s genetics revolution?

The report set out the NHS’ intentions of routinizing whole genome sequencing. It is particularly focused towards rare diseases and cancers, although conditions such as obesity, bacterial and other infections are also included.

11 Sep 2017

Combination immunotherapy as second or third line treatment of mesothelioma shows promising results

Combination immunotherapy as second or third line treatment extends overall survival to at least 15 months in patients with pleural malignant mesothelioma, according to late-breaking results from the MAPS2 trial presented today at the ESMO 2017 Congress in Madrid.

11 Sep 2017

Coimbra Pediatric Hospital selects Congenica's Sapientia software platform for In2Genome project

Congenica, a global provider of clinical genomics interpretation software, today announced a new customer partnership with the Coimbra Paediatric Hospital, a leading paediatric hospital in Portugal and part of the Coimbra Hospital and University Centre.

7 Sep 2017

FDA approves drug to treat patients with newly diagnosed CD33-positive AML

The U.S. Food and Drug Administration today approved Mylotarg (gemtuzumab ozogamicin) for the treatment of adults with newly diagnosed acute myeloid leukemia whose tumors express the CD33 antigen (CD33-positive AML).

1 Sep 2017

Aridhia signs pioneering research and innovation platform deal with Great Ormond Street Hospital

Aridhia, the cloud-based data analysis platform provider, has agreed a new ten-year deal with Great Ormond Street Hospital NHS Foundation Trust which will see it deliver the research and innovation component of the Trust’s multi-year digital transformation program.

31 Aug 2017

Rare Disease News and Research

Calcium controls use of glucose by T cells to multiply and battle against infection, study finds

Five new ways individualized medicine has moved from research lab into clinical care

Study to determine lowest dose of chemotherapy needed for babies with SCID

First-ever treatment for Merkel cell carcinoma receives approval in Japan

New syndrome caused by biallelic mutations predisposes the body to tumors

New tissue-chip research aims to speed drug development for two genetic forms of epilepsy

New sickle cell disease poll dispels long-held perceptions of African Americans

Researchers precisely describe effects of frequent genetic mutation in congenital hyperinsulinism

Without price breaks, rural hospitals struggle to stock costly, lifesaving drugs

FDA grants accelerated approval to new drug for treating relapsed follicular lymphoma

FDA moves to guard against abuse of ‘orphan drug’ program

Wearable technology launched by egg health allows first person patient insight

Insmed reports top-line data from Phase 3 study of new treatment in patients with NTM lung disease

PCORI Board awards $18 million for two new studies on sickle cell disease

NIH awards $15 million to develop 3D microphysiological system platforms that model human disease

Generation Genome: the UK’s genetics revolution?

Combination immunotherapy as second or third line treatment of mesothelioma shows promising results

Coimbra Pediatric Hospital selects Congenica's Sapientia software platform for In2Genome project

FDA approves drug to treat patients with newly diagnosed CD33-positive AML

Aridhia signs pioneering research and innovation platform deal with Great Ormond Street Hospital

Industry Focus eBook - Neurology/Neuroscience - 2nd edition eBook

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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