Genetic Disorder News and Research

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A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

New collaboration may allow researchers to develop potential gene therapies for pediatric diseases

A new collaboration between Seattle Children's Research Institute and bluebird bio, Inc., a biotechnology company based in Cambridge, Mass. and Seattle, will allow researchers to develop potentially transformative gene therapies for severe genetic and rare pediatric diseases. The collaboration supports pediatric researchers in Seattle who will work with bluebird bio scientists and the company's gene editing technology to research potential cures for genetic pediatric diseases.

11 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

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

Valerion announces positive results from non-clinical pilot study of VAL-1221 for treatment of Pompe disease

Valerion Therapeutics, LLC yesterday announced positive results from a non-clinical "proof of concept" pilot study for a novel humanized antibody and acid alpha glucosidase (GAA) fusion candidate for the treatment of Pompe disease.

3 Sep 2015

New NIH grants support research that combines DNA sequence information and electronic medical records

A dozen awards from the National Institutes of Health will support research that incorporates DNA sequence information into electronic medical records. The goal of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual patients based on their genomic differences.

2 Sep 2015

ESC Guidelines recommend DNA analysis for post mortem assessment in young sudden death victims

ESC Guidelines published today recommend DNA analysis as a fundamental component of post mortem assessment in young sudden death victims. Identification of a genetic cause helps to quickly diagnose and protect relatives.

29 Aug 2015

GOSH to improve rare disease diagnosis with adoption of Congenica’s Sapientia technology

Ian was ‘a clumsy child’. He kept bumping into objects and couldn’t see well in the dark. He endured 15 years of tests and misdiagnoses during a lengthy, and sometimes traumatic, diagnostic odyssey.

26 Aug 2015

‘Medical foods’ for patients with rare IEMs may cause harm when not carefully managed

Many "medical foods" are designed to help manage patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and life-threatening complications. However, such special foods may cause harm in some patients when their use is not carefully monitored and managed, according to a research team led by scientists at the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health.

14 Aug 2015

Rhythm Metabolic completes $40 million Series A financing

Rhythm announced today the completion of a $40 million Series A financing for its subsidiary, Rhythm Metabolic, Inc., which is developing setmelanotide (RM-493), a novel peptide MC4 agonist for the treatment of obesity caused by genetic deficiencies in the MC4 pathway.

13 Aug 2015

USF Health, FORCE receive $1.45 million from PCORI to advance and expand clinical research network

A team led by the University of South Florida Morsani College of Medicine and the leading national hereditary breast and ovarian cancer advocacy organization, FORCE (Facing Our Risk of Cancer Empowered) received a $1.45-million funding award for a three-year project from the Patient-Centered Outcomes Research Institute to continue to advance and expand the ABOUT Network as part of the second phase of PCORnet: the National Patient-Centered Clinical Research Network.

13 Aug 2015

New technology advances genome engineering

In his mind, Basil Hubbard can already picture a new world of therapeutic treatments for millions of patients just over the horizon. It's a future in which diseases like muscular dystrophy, cystic fibrosis and many others are treated permanently through the science of genome engineering.

11 Aug 2015

Gamida Cell reaches agreements with FDA and EMA regarding NiCord Phase III study design outline

Gamida Cell, a leader in cellular and immune therapies for the treatment of cancer and orphan genetic diseases, announced today that the company has reached agreements with the FDA and EMA regarding the Phase III study design outline of NiCord.

10 Aug 2015

Intrexon, Synthetic Biologics form ECC to develop and commercialize novel biotherapeutics for phenylketonuria

Intrexon Corporation, a leader in synthetic biology, and Synthetic Biologics, Inc., a clinical-stage company focused on developing therapeutics to protect the microbiome while targeting pathogen-specific diseases, today announced an Exclusive Channel Collaboration (ECC) to pursue the development and commercialization of novel biotherapeutics for the treatment of patients with phenylketonuria (PKU), a serious and debilitating metabolic disorder.

10 Aug 2015

Vtesse reports preliminary results from VTS-270 Phase 1 trial for treatment of Niemann-Pick Disease Type C

Vtesse, Inc. announced preliminary results today from an open-label Phase 1 clinical trial with VTS-270 (a formulation of (2-hydroxypropyl)-beta-cyclodextrin) for treatment of Niemann-Pick Disease Type C (NPC) conducted by researchers at the National Institutes of Health Eunice Kennedy Shriver National Institute of Child Health and Human Development.

6 Aug 2015

New ACMG Scope of Practice of the Specialty of Medical Genetics document released

The field of medical genetics is swiftly evolving. It's a period of rapid scientific discovery, new technologies and subsequent translation into medical practice, public policy and public health. But what role should the Medical Genetics specialist have since genetics impacts all patients and specialties in some way? In an effort to clearly define the changing role of the specialty of Medical Genetics and the distinction between Medical Geneticists and other genetics healthcare professionals, the American College of Medical Genetics and Genomics has has just released a new "Scope of Practice of the Specialty of Medical Genetics" document, revising its earlier 2008 Policy Statement.

4 Aug 2015

Array Biopharma reports strong fourth quarter and full year 2015 financial results

Array BioPharma Inc. today reported results for the fourth quarter and full year of its fiscal year ended June 30, 2015.

3 Aug 2015

NEJM publishes positive clinical results from Phase 2 clinical study of volanesorsen

Isis Pharmaceuticals, Inc., the leader in RNA-targeted therapeutics, and Akcea Therapeutics, its wholly owned subsidiary, announced today that The New England Journal of Medicine (NEJM) has published positive clinical results from a Phase 2 clinical study evaluating volanesorsen (formerly ISIS-APOCIII Rx) in patients with very high to severely high triglycerides.

30 Jul 2015

Understanding the workings of error correction mechanism in cell division

Cell biologists led by Thomas Maresca at the University of Massachusetts Amherst, with collaborators elsewhere, report an advance in understanding the workings of an error correction mechanism that helps cells detect and correct mistakes in cell division early enough to prevent chromosome mis-segregation and aneuploidy, that is, having too many or too few chromosomes.

30 Jul 2015

Innovative approach to treating AAT deficiency

Researchers have demonstrated the feasibility of delivering an RNA that encodes for the protein alpha-1-antitrypsin (AAT)--which is missing or nonfunctional in the genetic disorder AAT deficiency--into cells in the laboratory, enabling the cells to produce highly functional AAT.

28 Jul 2015

Deep Genomics set to bring the power of deep learning technologies to genomics

Evolution has altered the human genome over hundreds of thousands of years -- and now humans can do it in a matter of months.

23 Jul 2015