Genomics, a science-led techbio company using large-scale genetic information to develop innovative precision healthcare tools and to accelerate drug discovery and development, today presented new research findings.

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient populations.

My journey has been a long one. I am a paediatric immunologist and principal investigator of a PID research laboratory, and

New Delhi: When most people think about genetic diseases, they imagine a simple connection: one faulty gene causes one specific illness. In reality, genetics is far more complex. Doctors and researchers are increasingly discovering that the same gene can ...

Experts at Cincinnati Children's have uncovered striking metabolic differences in people with Fanconi anemia (FA), a rare genetic disorder that causes bone marrow failure and dramatically increases cancer risk. The findings, published in Science Advances ...

Noonan Syndrome, identified by Dr. Jacqueline A. Noonan, involves congenital heart defects and is linked to PTPN11 gene mutations. Cronkhite-Canada Syndrome, discovered by Dr. Wilma Jeanne Canada, is characterized by gastrointestinal polyposis and ...

Every new discovery in genetics brings scientists one step closer to understanding complex conditions and improving the lives of those affected. Learn how MIRAGE syndrome was discovered in 2016 through genetic sequencing and why this rare SAMD9-related disorder is one of the rarest medical conditions in the world.

Connecticut prides itself on strong schools, world-class healthcare, and a commitment to caring for its most vulnerable residents. We are a state that values education, innovation, and community. Yet for families affected by rare disease and disability ...

New research advances genetic diagnosisDemonstrates the potential to expand equitable access to treatment for patients living with rare inherited metabolic and neurodegenerative diseasesBALTIMORE