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Rare Disease

All articles tagged with #rare disease

A Family's $4 Million Bet on a Groundbreaking Gene Therapy
health8 days ago

A Family's $4 Million Bet on a Groundbreaking Gene Therapy

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.

via aol.com|
#clinical-trial#cockayne-syndrome#fda
Invisible Itch: How PFIC in Adults Can Mask a Liver Problem
health8 days ago

Invisible Itch: How PFIC in Adults Can Mask a Liver Problem

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.

via vox.com|
#genetics#health#liver-disease
Pittsburgh Launches Rare Ventures with $25M to Accelerate Rare-Disease Therapies
health12 days ago

Pittsburgh Launches Rare Ventures with $25M to Accelerate Rare-Disease Therapies

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.

via Pittsburgh Post-Gazette|
#ai#biotech#health
Stomachache hinted at a rare pediatric killer: a 5-year-old’s battle with Clarkson’s disease
health23 days ago

Stomachache hinted at a rare pediatric killer: a 5-year-old’s battle with Clarkson’s disease

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.

via Yahoo|
#clarksons-disease#emergency-medicine#health
Dad urges vigilance after 5-year-old dies from rare capillary leak on vacation
health24 days ago

Dad urges vigilance after 5-year-old dies from rare capillary leak on vacation

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.

via ABC7 Chicago|
#clarksons-disease#health#parental-warning
Oregon vacation ends in tragedy as 5-year-old dies from rare Clarkson's disease
health25 days ago

Oregon vacation ends in tragedy as 5-year-old dies from rare Clarkson's disease

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.

via USA Today|
#clarksons-disease#family-tragedy#health
Utah Woman Faces Rare Niemann-Pick Disease, Possibly the State’s Only Diagnosed Case
local1 month ago

Utah Woman Faces Rare Niemann-Pick Disease, Possibly the State’s Only Diagnosed Case

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.

via KUTV|
#health-costs#infusions#local
Boston Partners Launch Nonprofit Center to Speed Gene Therapies for Rare Diseases
health1 month ago

Boston Partners Launch Nonprofit Center to Speed Gene Therapies for Rare Diseases

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.

via The Boston Globe|
#biotech#boston#gene-editing
AI helps solve 18 rare pediatric illnesses doctors couldn't crack
health2 months ago

AI helps solve 18 rare pediatric illnesses doctors couldn't crack

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.

via The Independent|
#ai#boston#genomics
Waking gym-like pains lead to rare sarcoidosis diagnosis and paralysis
health2 months ago

Waking gym-like pains lead to rare sarcoidosis diagnosis and paralysis

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.

via New York Post|
#extrapulmonary#health#mobility
Parents Discover They Carried a Rare Gene Mutation After Their Two Children Were Diagnosed with Niemann-Pick Disease
health2 months ago

Parents Discover They Carried a Rare Gene Mutation After Their Two Children Were Diagnosed with Niemann-Pick Disease

An Ohio couple learns, after genetic testing, that both parents unknowingly carried the same rare mutation, leaving their two children Roman (7) and Stella (6) diagnosed with Acid Sphingomyelinase Deficiency (ASMD), Niemann-Pick Disease Type A/B. The disease can cause liver issues, vomiting, seizures and neurodegeneration; with no cure, the family has pursued aggressive treatments to slow progression, including bi-weekly infusions, while navigating pregnancy and caregiving. Their children have lived beyond initial life expectancy, and the parents have become advocates to improve access to treatment for other families dealing with ASMD, emphasizing resilience and hope.

via Yahoo|
#asmd#family-journey#genetic-testing
Nova Scotia Man’s Gut Produces Alcohol, Unveiling a Rare Auto-Brewery Syndrome
health2 months ago

Nova Scotia Man’s Gut Produces Alcohol, Unveiling a Rare Auto-Brewery Syndrome

In Nova Scotia, Eric Poulin has auto-brewery syndrome, a rare condition where gut microbes ferment alcohol, causing intoxication without drinking; diagnosis took nearly 10 years, with limited effective treatments and ongoing exploration of a fecal microbiota transplant, while his wife advocates via a symptom-tracking app and he has been out of work since 2023.

via CBC|
#auto-brewery-syndrome#fecal-microbiota-transplant#gut-microbiome