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New genome editing tool used to heal genetic disease

Parents of newborns may be familiar with the metabolic disorder phenylketonuria: in Switzerland, all newborn babies are screened for this genetic disease.

8 Oct 2018

Alnylam submits CTA application to MHRA to initiate Phase 1/2 study of ALN-AAT02

Alnylam Pharmaceuticals, Inc., the leading RNAi therapeutics company, announced today that it has submitted a Clinical Trial Authorization application to the Medicines and Healthcare products Regulatory Agency to initiate a Phase 1/2 study of ALN-AAT02, an investigational RNAi therapeutic targeting alpha-1 antitrypsin for the treatment of AAT deficiency-associated liver disease.

3 Oct 2018

Physical activity may have beneficial effects for people with rare Alzheimer's disease

For individuals carrying a genetic mutation that causes Alzheimer's disease, engaging in at least 2.5 hours of physical activity per week may have beneficial effects on markers of Alzheimer's disease brain changes and may delay cognitive decline, according to a new study available online by Alzheimer's & Dementia: The Journal of the Alzheimer's Association as an article in press, corrected proof.

25 Sep 2018

Scientists publish study results of AAV therapy product for treatment of RHO-adRP

Ophthotech Corporation announced today that scientists at the University of Pennsylvania and University of Florida published proof-of-concept study results on an adeno-associated virus gene therapy product candidate for the treatment of rhodopsin-mediated autosomal dominant retinitis pigmentosa licensed by Ophthotech.

22 Aug 2018

Scientists report novel gene therapy that halts vision loss in canine model of blinding disease

Scientists funded by the National Eye Institute report a novel gene therapy that halts vision loss in a canine model of a blinding condition called autosomal dominant retinitis pigmentosa (adRP). The strategy could one day be used to slow or prevent vision loss in people with the disease. NEI is part of the National Institutes of Health.

21 Aug 2018

Otsuka’s JINARC approved for treatment of patients with CKD stage 4 ADPKD

Otsuka Pharmaceutical Europe Ltd. today announced that the European Commission has approved an extension of indication for JINARC to include adult patients with CKD stage 4 Autosomal Dominant Polycystic Kidney Disease

2 Aug 2018

Research reveals long-term efficacy of drug used to treat common cause of kidney failure

New research provides support for the long-term efficacy of a drug used to treat in patients with autosomal dominant polycystic kidney disease, a common cause of kidney failure.

19 Jul 2018

Mapping the Genes Responsible for Pluripotency

Dr. Atilgan Yilmaz and his team have developed a method by which they can produce haploid human embryonic stem cells from oocytes. They combined this technique with CRISPR-Cas9 to generate an atlas of the genome, containing the functions of over 18,000 genes.

23 May 2018

Raising Awareness of Childhood Dementia

The Dementia Strikes Children Too campaign aims to raise awareness of childhood dementia, drive for better clinical education of this group of diseases, and put in place the systems and tools for earlier diagnosis.

18 May 2018

CRISPR-based treatment can restore retinal function in mice with eye disease

Researchers from Columbia University have developed a new technique for the powerful gene editing tool CRISPR to restore retinal function in mice afflicted by a degenerative retinal disease, retinitis pigmentosa.

11 May 2018

Scientists develop new drug for treating skin lesions in rare intractable disease

Scientists at Osaka University developed a new drug treating skin lesions in tuberous sclerosis complex (TSC), a rare intractable disease, a world first.

5 Apr 2018

Lipodystrophy: The Importance of Awareness

An interview with Rebecca Sanders, Lipodystrophy UK co-founder, discussing the importance of awareness campaigns for patients and society at large.

3 Apr 2018

Study uncovers new genetic cause of posterior polymorphous corneal dystrophy

A new genetic cause of corneal dystrophy has been discovered with funding from Fight for Sight by researchers at UCL Institute of Ophthalmology and Moorfields Eye Hospital London, in collaboration with colleagues in the Czech Republic.

22 Mar 2018

The effects of Huntington’s disease can be seen as early as conception, finds new study

In a breakthrough study, scientists at the Rockefeller University have observed the effects of Huntington’s disease in neurons as early as conception.

30 Jan 2018

Gene editing shows promise to help people at risk of hearing loss

Gene editing could someday help people at risk of hearing loss from genetic mutations, according to research by a new Rice University faculty member.

20 Dec 2017

Early intervention may be crucial to successful treatment of Friedreich's ataxia

New research published today in Disease Models & Mechanisms indicates that early intervention should be a key target in the development of new therapeutics for Friedreich's ataxia, as current treatments may be administered too late to target the disease effectively.

8 Nov 2017

Scientists get one step closer to reversing retinal degenerative diseases

Degenerative disorders affecting the retinal pigment epithelium (RPE), such as age-related macular degeneration and autosomal recessive bestrophinopathy, can ultimately lead to blindness. Some of these life-changing disorders are the result of mutations in a single gene, called BEST1.

25 Oct 2017

Cancer drug may inhibit growth of cysts in patients with inherited form of kidney disease

A cancer drug called bosutinib may inhibit the growth of cysts in patients with autosomal dominant polycystic kidney disease (ADPKD), according to a study appearing in an upcoming issue of the Journal of the American Society of Nephrology.

24 Aug 2017

Researchers uncover how mutations in single gene lead to rare kidney and liver disease

In a joint international study, researchers from Osaka University have partnered with research groups from the United States and Spain to uncover how mutations in a single gene called PKHD1 lead to symptoms associated with a rare kidney and liver disease, ARPKD (autosomal recessive polycystic kidney disease).