This page shows the latest Genetic disease news and features for those working in and with pharma, biotech and healthcare.
The companies will work together to develop potentially curative treatments for disorders including sickle cell disease and beta thalassaemia. ... One in 100, 000 people are affected by symptomatic cases of beta thalassaemia, a rare genetic blood disease
SMA is a disease affecting an estimated one in 10, 000 infants globally. ... Zolgensma is currently the only approved gene therapy for the treatment of SMA and is the only SMA treatment produced to directly tackle the genetic root cause of the disease.
The main objective of the study is to apply earlier published findings which showed a reduction of motor impairment using Asceneuron’s OGA inhibitors to the alternative genetic disease model. ... ASN51 has the potential to make a meaningful impact on
The study, New insights into the genetic etiology of Alzheimer’s disease and related dementias published in Nature Genetics, has identified 42 new genes that appear to be connected to the ... The disease, which typically develops after the age of 65,
SMA is chronic, progressive neuromuscular disease, affecting an estimated one in 10, 000 babies as a leading genetic cause of infant mortality. ... The disease is caused by a mutation of the survival motor neuron 1 (SMN1) gene which causes a deficiency
SMA is a rare, genetic, neuromuscular disease that is caused by a deficiency in the production of survival motor neuron (SMN) protein and can affect individuals of all ages, with varying ... levels of disease severity.
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Time can be a precious luxury to someone diagnosed with a rare genetic disease, so getting timely access to new innovative therapies is critical. ... In the last few years, the promise of gene and cell therapies has finally become tangible for certain
In 2021, I expect there to be an increase in digital health solutions on the whole but particularly in rare genetic disease areas. ... In. rare genetic disease research, there may be a way to apply Bayesian models to analyse historic data to accelerate
Such support, coupled with new approaches to patient recruitment and outreach have made rare disease R&D much more common. ... Price concerns. Another argument in favour of the support given to the orphan drug industry is that rare disease drugs generate
Similarly, commercial teams need to drill down and understand HTA requirements within the disease category to ensure trials are designed to capture the necessary data for modelling. ... In today’s marketplace, with the level of innovation coming
Nucala, which has the market boost of being licensed for home administration via self- administered auto-injector and prefilled syringe, is running smoothly with approval for the rare disease EGPA in ... One of the strengths of GSK is that we are keen to
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He co-founded the rare disease patient group support charity Findacure with Nick Sireau, the advisor to and the inspiration behind Healx. ... Hall’s experience in drug development includes significant contributions to the repurposing of nitisinone for
The field of genomic medicine has the potential to revolutionise our approach to rare genetic disease diagnosis and management, as well as in other areas of personalised medicine.”. ... Sobi appoints head of technical operations. Rare disease
Carsten Thiel joins the biopharma from Alexion. Rare genetic disease focused biopharma Abeona Therapeutics has named its chief executive officer in the form of Carsten Thiel. ... Steven Rouhandeh, executive chairman of Abeona, said: “As CEO, Carsten
She joins the pharma group’s board of directors. Cancer and rare genetic disease focused group Agios Pharmaceuticals has appointed Jackie Fouse to its board of directors as the company prepares
Will lead programme to target genetic heart disease. MyoKardia has appointed former VP, clinical development at AstraZeneca Jonathan Fox to chief medical officer. ... Commenting on his appointment, he highlighted MyoKardia's potential in treating genetic
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The cause of this genetic disease involves a problem with the production of heme, a component in haemoglobin. ... Our medical writing and creative teams collaborated to create an Infographic to better explain the disease.
Batten Disease is a group of fatal genetic disorders. There are 13 types. ... There is no cure for these disorders but a treatment for CLN2 disease has been approved.
themes to advance their goal) recently published in the Rare Disease and Orphan Drugs Journal. ... A second example of the diagnostic potential of AI targets the finding that many rare diseases are associated with characteristic facial morphologies (such
1). With 8 out of 10 rare diseases considered to have a genetic component. ... My role can begin…) If a couple are planning on becoming pregnant and there is a rare disease in the family that’s genetic, if we find something on the scan
2) A 2018 analysis of studies looking for genetic variants associated with disease found that 78% of study participants were of European ancestry, compared with 10% of Asian ancestry and 2% ... from thousands of participants to find genetic variants
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A heritage to envy Wilmington Healthcare brings together the data intelligence specialisms of Binley’s, NHiS, Wellards and HSJ to create...