rare diseases

Elevating Whole Exome Sequencing With Twist Exome 2.0

Designed with best-in-class features, Twist Bioscience’s Exome 2.0 outperforms other exome sequencing panels in detecting rare and inherited diseases.

X-Chromosome Inactivation Reveals Cause Of Rare Brain Disease

Scientists have found that the CASK gene is responsible for a rare brain disorder called MICPCH.

Takeda Completes Acquisition Of Shire

The acquisition of Shire allows Takeda to expand its R&D efforts in four therapeutic areas: oncology, gastroenterology, neuroscience and rare diseases.

T-CiRA & RIKEN To Tackle Rare Disease With iPS Cells

CiRA of Kyoto University, Takeda and RIKEN are collaborating to discover a drug for a rare genetic disorder called NGLY1 deficiency.

Gene Involved In Nose Formation Found

Scientists in Singapore have identified the gene responsible for arhinia, a rare condition where babies are born without a nose.

Neglected No More

Dr. BT Slingsby, founder and CEO of the Global Health Innovative Technology (GHIT) fund, is passionate about using Japanese research knowhow to help tackle the most challenging public health issues of the day.

DNDi & Eisai To Develop Treatment For Eumycetoma

Eisai and Drugs for Neglected Diseases initiative plan to run clinical trials for the anti-fungal drug Fosravuconazole.