Genetics & Birth Defects
November 27, 2020
Muscular Dystrophy Treatment – 2020 Therapy & Medications
Muscular dystrophy is inherited diseases that weaken your muscles and occur at any age. Find out about Muscular Dystrophy Treatment in 2022.
November 26, 2020
DNA Methylation – How Does It Affect Gene Expression?
Want to know more about DNA methylation in 2022 but find it hard to understand? Well, this simplified article is for you.
July 6, 2020
Trailblazing study discovers novel genetic causes of rare diseases, leading to improved diagnosis and better patient care
A research programme pioneering the use of whole genome sequencing in the NHS has diagnosed hundreds of patients and discovered new genetic causes of disease.
July 6, 2020
How digital tools can advance quality and equity in genomic medicine
The pandemic has forced health care providers to find new ways to connect with patients through screens. For genetic specialists, who provide patients and families with genetic testing for conditions linked to DNA, connecting with patients is an important part of helping them make informed medical decisions.
June 29, 2020
Ground-breaking research uncovers genetic causes of rare diseases
A research program pioneering the use of whole genome sequencing has diagnosed hundreds of patients with rare diseases and discovered new genetic causes of disease.
June 17, 2020
FDA Approves First Treatment for Adult Onset Still’s Disease, a Severe and Rare Disease
The FDA approved Ilaris (canakinumab) injection for the treatment of Active Still’s disease, including Adult-Onset Still’s Disease (AOSD)
June 12, 2020
Yale researchers find potential treatment for Rett syndrome
An experimental cancer drug can extend the life of mice with Rett syndrome, a devastating genetic disorder that afflicts about one of every 10,000 to 15,000 girls within 6 to 18 months after birth
June 4, 2020
New test for rare disease identifies children who may benefit from simple supplement
The nutritional supplement has dramatically improved the lives of other children with the rare metabolic disorder.