All articles tagged with #rare disease
Endpoints News has released its eighth annual special report recognizing 20 women who are significantly influencing the biopharmaceutical industry. The honorees span diverse sectors, including oncology and rare disease research. This initiative is part of a broader effort that has recognized over 160 women across various biopharma sectors since the program's inception.
A mother in Bedfordshire is campaigning for increased government funding for junctional epidermolysis bullosa, a rare genetic condition that leaves infants with skin as fragile as glass. Her six-month-old son, Ralph, was diagnosed days after birth with severe blistering and missing skin on his hands and feet. While doctors at Great Ormond Street Hospital taught the parents how to manage the condition, there is currently no cure. The mother has launched a petition that gathered 10,000 signatures, prompting a response from the Department of Health and Social Care, which cited existing funding of £1.075 million over five years. Despite this, advocates argue that rare conditions are often overlooked in research priorities, and families must tirelessly campaign for basic care improvements.
Oliver Broner, now 15, spent over a decade seeking answers for his movement disorders after early developmental delays and a misdiagnosis of cerebral palsy. A rare mutation in the DNM1L gene, initially dismissed as insignificant, was eventually confirmed as the cause through genetic research and fruit fly studies. The condition, affecting only 58 known cases worldwide, is now being managed with medication that has significantly improved his mobility and quality of life.
Jo Kaur describes how her family created a patient‑driven initiative to develop a first‑in‑human gene therapy for their son with Cockayne syndrome, raising about $4 million to bring the treatment from concept to clinic and weighing whether to proceed with the procedure; three months post‑treatment, their son is clinically stable and showing encouraging signs, though long‑term benefits are still uncertain and the family aims to secure FDA approval to treat other children.
Progressive familial intrahepatic cholestasis (PFIC) can cause severe internal itching in adults, often without visible skin signs and with normal liver imaging, leading to delays or misdiagnosis as a skin condition. PFIC is a spectrum, not just a childhood disease, and diagnosis relies on symptoms plus genetic testing rather than scans. Awareness is growing and treatments like BYLVAY (odevixibat) can relieve itch for many patients, though effectiveness varies by PFIC type and there are potential side effects; patients are advised to consult an adult hepatologist and connect with PFIC support networks for diagnosis and management.
The Richard King Mellon Foundation is launching Rare Ventures in Pittsburgh with $25 million to create a three-year, venture‑philanthropy hub that unites universities, biotech firms, and EB Research Partnership to accelerate rare-disease drug development. The initiative will use an AI tool called Curator to centralize deidentified patient genetic data for trial matching, with a goal of becoming self‑sustaining by funneling revenues from approved therapies back into future research and expanding collaborations across Pitt, CMU, ElevateBio, UPMC, and Stanford.
A 5-year-old on a family vacation in Oregon developed a stomachache and vomiting that rapidly escalated to a life-threatening case of Clarkson’s disease (systemic capillary leak syndrome). The rare diagnosis, typically seen in adults and with few pediatric cases, caused plasma leakage, edema, and distributive shock, leading to the child’s death after extensive life-support efforts. The case underscores how difficult it is to diagnose this condition in children and that there is no established cure, with fundraising supporting the family.
A Colorado father, Viet Vu, shares his family’s tragedy after his 5-year-old son Justin died during a trip to Oregon from the rare systemic capillary leak syndrome (Clarkson’s disease). Justin’s illness began with stomach pain and vomiting, led to hospitalization and multiple antibiotic treatments as doctors searched for an infection, but the cause remained unknown and the boy died five days after admission. The father warns other parents to be aware of this invisible, poorly understood disease, which is especially rare in children.
A family trip to Oregon ended with the death of 5-year-old Justin Vu from Clarkson's disease (systemic capillary leak syndrome), a very rare condition that causes sudden blood pressure collapse. Diagnosed after initial concerns for appendicitis or infection, the illness worsened to require life support; Justin died on July 8 despite treatment. The disease is extremely rare in children, with limited documented cases and no known cure, though some therapies can help manage episodes. A fundraiser has raised about $45,000 for the family.
A 21-year-old Davis County woman may be Utah's only diagnosed Niemann-Pick disease patient, described by her family as a mix of Alzheimer’s, dementia and Parkinson’s. She travels to Chicago every two weeks for infusions, with yearly treatment costs estimated up to $3.5 million, though her insurance covers most. While there is no cure, early intervention and ongoing care aim to slow the disease, and the family remains hopeful while raising awareness.
Boston Children’s Hospital, the Broad Institute, and Jackson Laboratory are launching the Center for Therapeutic Genetics, a nonprofit collaboration to develop and share programmable gene-editing therapies for rare diseases and make them more scalable and accessible by building reusable platforms—models, manufacturing data, safety data, and clinical programs—so doctors can deliver these treatments like standard medical procedures; backed by ARPA-H with up to $160 million, the center will initially target pediatric genetic epilepsies and is in its founding phase, not yet accepting patient referrals.
A 5-year-old girl is diagnosed with metachromatic leukodystrophy, a rare genetic disease; her diagnosis leads doctors to test her younger brother, who is found to have the same condition and is now set to begin a $4 million gene therapy that could save his life, while the sister's decline underscores the emotional toll on the family.
A NEJM study shows OpenAI's o3 model aided doctors at Boston Children's Hospital in diagnosing 18 children with previously unsolved rare illnesses, using AI as a diagnostic tool under physician oversight to reach new diagnoses and guide treatment.
OpenAI’s o3 model aided physicians at Boston Children’s Hospital in diagnosing 18 children with previously unsolved rare illnesses; a NEJM study analyzed 376 undiagnosed genomes and found AI contributed to nearly 5% of new diagnoses when used with patient data and doctors’ notes, with clinicians providing final review. One patient, Kyra Benton, was diagnosed with myofibrillar myopathy after years of uncertainty, illustrating AI’s potential as a tool to accelerate rare-disease diagnoses rather than replace clinicians.
A 38-year-old woman woke with gym-style aches and rapidly lost movement in her legs and arm, later being diagnosed with extrapulmonary sarcoidosis that affects the limbs but not the lungs. After extensive testing and hospital care, she was treated with methotrexate before switching to adalimumab, moved back to the UK for ongoing care, and now relies on 24-hour support and a wheelchair during flare-ups. Her life has drastically shifted from travel and work to chronic pain and limited mobility, with ongoing treatment and limited medical literature on her condition.