Rare Disease News and Research

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A revolutionary drug for extreme hunger offers clues to obesity’s complexity

Ali Foley Shenk still remembers the panic when her 10-year-old son, Dean, finished a 20-ounce box of raisins in the seconds the cupboard was left unlocked. They rushed to the emergency room, fearing a dangerous bowel impaction.

16 Jun 2025

Using causal machine learning to identify potential ALS treatments

Potential treatments for amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases may already be out there in the form of drugs prescribed for other conditions.

10 Jun 2025

Genetic evolution of plague bacterium may have prolonged historic pandemics

Scientists at the Institut Pasteur and McMaster University have discovered that the evolution of a gene in the bacterium that causes bubonic plague, Yersinia pestis, may have prolonged the duration of two major pandemics.

29 May 2025

Integrating pharmacogenomics into everyday clinical practice can transform patient care

Pharmacogenomics studies how individuals respond to drugs based on their genetic code. Using that knowledge to guide prescribing in routine care could lead to better outcomes for patients and save money for health systems.

26 May 2025

New blood test speeds up diagnosis of rare childhood diseases

A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research to be presented to the annual conference of the European Society of Human Genetics today (Monday).

25 May 2025

JAX study sheds light on infection vulnerability in patients with rare mitochondrial diseases

Patients with rare mitochondrial diseases already face a host of serious health issues, from muscle weakness to neurological problems and heart conditions.

21 May 2025

Customized CRISPR gene editing therapy successfully treats infant with rare disease

In a historic medical breakthrough, a child diagnosed with a rare genetic disorder has been successfully treated with a customized CRISPR gene editing therapy by a team at Children's Hospital of Philadelphia (CHOP) and Penn Medicine.

15 May 2025

Newly identified gene mutation causes severe form of Fanconi anemia

Fanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, characterized by bone marrow failure and cancer predisposition, survive into adulthood only with bone marrow transplantation and regular cancer screening.

11 May 2025

Five major advances in anal and rectal cancer treatment with radiotherapy: A new era of organ-preserving options

Rectal cancer is a type of bowel cancer that develops in the last several centimeters of the large intestine, just before the anus.

2 May 2025

New DNA mapping technology uncovers genetic clues to rare diseases

Cutting-edge DNA mapping technology identified new genetic information that can help researchers decipher more genetic diseases, a new study found.

25 Apr 2025

Monell study offers renewed hope for people living with Bardet-Biedl Syndrome

A Monell Chemical Senses Center study published this week in the Journal of Clinical Investigation offers renewed hope for individuals living with Bardet-Biedl Syndrome (BBS), a rare genetic disorder characterized by early-onset obesity, compulsive eating, and cognitive impairments.

18 Apr 2025

#RareDiseases - The EU Action Plan must step up European-national cooperation

A high-level conference convened in Warsaw under the auspices of the Polish Presidency of the Council of the European Union highlighted the importance of adopting a comprehensive Europe-wide policy framework on rare diseases.

15 Apr 2025

Faulty gene linked to increased risk of punctured lung in thousands

As many as one in 3,000 people could be carrying a faulty gene that significantly increases their risk of a punctured lung, according to new estimates from Cambridge researchers. Previous estimates had put this risk closer to one in 200,000 people.

7 Apr 2025

Genetic research offers hope for children with rare intestinal disorders

Further genetic testing would show that Sophie has one of a group of rare conditions called CODE (congenital diarrhea and enteropathies) that disrupts the function of cells in the intestine, causing diarrhea and preventing infants from absorbing the nutrients they need to grow and thrive.

3 Apr 2025

US FDA approves first treatment for hyperphagia in Prader-Willi syndrome

The United States Food and Drug Administration (US FDA) has approved VYKAT™ XR, a significant milestone as the first approved treatment for hyperphagia in Prader-Willi syndrome (PWS).

2 Apr 2025

Scientists make breakthrough in understanding the causes of spina bifida

Scientists at Rady Children's Institute for Genomic Medicine, and the Department of Neurosciences and Pediatrics at the University of California, San Diego, have made a significant breakthrough in understanding the causes of spina bifida, a serious birth defect affecting thousands of newborns each year.

1 Apr 2025

New discovery unravels mystery behind overactive immune responses

Autoimmune diseases, which are estimated to affect more than 15 million people in the U.S., occur when the body responds to immune-system false alarms, and infection-fighting first responders are sent out to attack threats that aren't there.

18 Mar 2025

Health organizations collaborate to address idiopathic pulmonary fibrosis on Rare Disease Day 2025

The American College of Chest Physicians (CHEST), the PF Warriors, the Rare Disease Diversity Coalition (RDDC)-a program at the Black Woman's Health Imperative-and the National Association of Community Health Workers (NACHW) announce their collaboration to address idiopathic pulmonary fibrosis (IPF) as a chronic disease on Rare Disease Day 2025.

28 Feb 2025

New discovery sheds light on energy crisis in children with TANGO2 deficiency

Researchers studying a protein linked to a rare, severe disease have made a discovery that sheds light on how cells meet their energy needs during a severe metabolic crisis.

28 Feb 2025

Global partnerships transforming diagnosis and treatment for rare genetic diseases

Global partnerships that embed scientific research into clinical care are revolutionising the diagnosis and treatments for children with rare genetic diseases, according to a new report.

27 Feb 2025