Rare Disease News and Research

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Alex’s experiences of living with rare genetic disease

In this video, meet participant Alexander Masterson and his mum, Kirsty, who speak about what getting a diagnosis from the 100,000 Genomes Project means to them.

From Genomics England 20 Mar 2018

‘Fast track’ project shows promising results in cancer whole genome analyses

One key aim of the 100,000 Genomes Project is to improve cancer care for NHS patients. Whole genome sequencing in cancer can enable clinicians to choose better treatments and improve outcomes for patients through personalized medicine.

From Genomics England 20 Mar 2018

Scotland study aims to offer precise diagnoses for people with rare genetic diseases

People in Scotland with rare genetic diseases are set to benefit from a DNA study that seeks to improve their diagnoses and treatments.

From Genomics England 20 Mar 2018

New guidelines intend to provide template for optimal, most up-to-date DMD care

Diagnostic and treatment advances are helping patients with Duchenne muscular dystrophy - one of nine major types of muscular dystrophy that affects males - live into their 30s and beyond, raising challenges in such areas as education, vocation, levels of independence, personal relationships, emotional health, and intimacy.

13 Mar 2018

Leading consultants from the North East putting rare diseases expertise on world stage

This Rare Disease Day (28 February), the Academic Health Science Network, is shining a spotlight on the region’s healthcare pioneers chosen to lead three major European rare disease networks.

1 Mar 2018

Report highlights needs, experiences of people with rare autoimmune rheumatic diseases

People living with rare autoimmune rheumatic diseases are facing major obstacles to diagnosis, treatment and lifestyle according to a major new study published today [Wednesday 28th February].

28 Feb 2018

Smart Cells launches social campaign to support Rare Disease Day 2018

There are more than 6000 known rare diseases and over 30 million people living daily with them. 28th February marks Rare Disease Day 2018, a date that highlights awareness around these conditions and the need for more research into them.

From Smart Cells International Ltd 23 Feb 2018

NIH releases unparalleled dataset from Adolescent Brain Cognitive Development study

The National Institutes of Health today released to the scientific community an unparalleled dataset from the Adolescent Brain Cognitive Development study. To date, more than 7,500 youth and their families have been recruited for the study, well over half the participant goal.

13 Feb 2018

New CRISPR gene-editing technique can correct majority of mutations that cause DMD

Scientists have developed a CRISPR gene-editing technique that can potentially correct a majority of the 3,000 mutations that cause Duchenne muscular dystrophy (DMD) by making a single cut at strategic points along the patient's DNA, according to a study from UT Southwestern Medical Center.

6 Feb 2018

Discovery of molecular nets may lead to new treatment approach for heart failure

Local researchers have discovered that a group of molecules, called chondroitin sulfate, normally found only in connective tissues such as the cartilage, accumulates and causes inflammation in the hearts of patients with heart failure.

31 Jan 2018

FDA approves new radioactive drug for treatment of rare digestive tract cancers

The U.S. Food and Drug Administration today approved Lutathera (lutetium Lu 177 dotatate) for the treatment of a type of cancer that affects the pancreas or gastrointestinal tract called gastroenteropancreatic neuroendocrine tumors (GEP-NETs).

29 Jan 2018

Scientists take tissue-engineering approach to improve healing related to skeletal system

"Take a knee." "On bended knee." A "knee-slapper." "The bee's knees." The knee certainly carries a lot of weight in the English language, just as it does in the body. As the largest and one of the most complicated joints, the knee is also one of the most easily injured.

23 Jan 2018

JAX researcher receives grant for retinal disease research

The National Eye Institute has awarded Jackson Laboratory Professor Juergen Naggert, Ph.D., a five-year grant totaling $2,187,500 to study genetically controlled breaks in an eye structure known as the external limiting membrane, which could hold the key to understanding and treating enhanced S-cone syndrome and other diseases of the retina.

22 Jan 2018

Experts look for ways to standardize treatments for pediatric rheumatic diseases

Pediatric rheumatic diseases are a varied group of rare diseases including juvenile forms of arthritis, lupus, fibromyalgia, and other conditions.

15 Jan 2018

Sangamo and Pfizer partner for development of new zinc finger protein gene therapy to treat ALS

Sangamo Therapeutics, Inc. and Pfizer Inc. today announced a collaboration for the development of a potential gene therapy using zinc finger protein transcription factors (ZFP-TFs) to treat amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) linked to mutations of the C9ORF72 gene.

8 Jan 2018

Rare Disease News and Research

Alex’s experiences of living with rare genetic disease

‘Fast track’ project shows promising results in cancer whole genome analyses

Scotland study aims to offer precise diagnoses for people with rare genetic diseases

New guidelines intend to provide template for optimal, most up-to-date DMD care

Leading consultants from the North East putting rare diseases expertise on world stage

Report highlights needs, experiences of people with rare autoimmune rheumatic diseases

Smart Cells launches social campaign to support Rare Disease Day 2018

NIH releases unparalleled dataset from Adolescent Brain Cognitive Development study

New CRISPR gene-editing technique can correct majority of mutations that cause DMD

Discovery of molecular nets may lead to new treatment approach for heart failure

FDA approves new radioactive drug for treatment of rare digestive tract cancers

Scientists take tissue-engineering approach to improve healing related to skeletal system

JAX researcher receives grant for retinal disease research

Experts look for ways to standardize treatments for pediatric rheumatic diseases

Sangamo and Pfizer partner for development of new zinc finger protein gene therapy to treat ALS

New, sensitive screening test may allow clinicians to accurately detect Pompe disease

FDA chief says he’s open to rethinking incentives on orphan drugs

FDA approves new gene therapy targeting rare form of inherited vision loss

Study: People with rare diseases at high risk for experiencing poor quality of life

Moderate exercise reduces progression of Marfan syndrome symptoms in mice

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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