Stephen Groft, Champion of Rare Diseases Research, Retires


Through his work with a community that often feels isolated, Stephen C. Groft, Pharm.D., has helped give thousands of rare disease patients and their families renewed hope and a collective voice. A public servant for more than four decades and a tireless advocate for rare […]

Pain in Children Goes Largely Untreated


ORLANDO, Florida — Conditions associated with pain in children are common, yet pharmacologic treatments for pain are prescribed in less than half of patients, according to new research. In a study that included data on 25.5 million pediatric patients from the United States with a […]

Mother Dives into Research on Kearns-Sayre Syndrome for Affected Child


By KRIS WILLIAMS, Hub Regional Correspondent BROKEN BOW — For nearly his entire life, 11-year-old Aniah Preston has been battling a disease that even his doctors don’t know much about. At his 1-year-old checkup, doctors found that Aniah’s blood count had bottomed out. His red […]

2 Clicks, 1 Vote Equals $100,000 for Sanfilippo Research, Vote Elisabeth Linton


Elisabeth Linton, founder of the Children’s Sanfilippo Research Foundation (Canada), has been nominated for a mother of the year award, a contest held by Walmart, Canada. The grand prize is $100,000 to be donated to the charity of the winner’s choice. Elisabeth was chosen out of 24,000 candidates to make it […]

Children With Rare Disease CDG Don’t Have Mutation in Every Cell Type

These children have the first demonstrated cases of CDG “mosaicism”: their mutations only appear in some cell types throughout the body, not all.

Children born with rare, inherited conditions known as Congenital Disorders of Glycosylation, or CDG, have mutations in one of the many enzymes the body uses to decorate its proteins and cells with sugars. Properly diagnosing a child with CDG and pinpointing the exact sugar gene that’s […]

Cracking The Code to Rare Diseases with Human Tissue Research

Biopta is a sponsor of the Rare Disease Science Challenge: Be HEARD (Helping Empower and Accelerate Research Discoveries).

As a contract research organization, our scientists get satisfaction from helping to create new medicines of other companies; we may not have our own compounds, but like all scientists, our team wants to make a difference. We follow avidly the progress of compounds we have […]

Backstage with Two Hearts Rock: Making a radical difference for rare disease

Two-Hearts-Rock Co-Founder, Kerry Hughes

A year has passed since our first event “Peace, Love, Rock and HOPE 4 Bridget” featuring Jesse Malin & The St. Marks Social. As Two Hearts Rock reflects upon its inaugural Rock Gala in the heart of our musical city of Chicago, we feel a […]