Rare Disease News and Research

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Study sheds light on mechanisms behind a rare disease found almost exclusively in boys

A University of Ottawa-led research team has published rigorous new research that advances a quest to understand a puzzling – and heartbreaking – ultra-rare disease that's found almost exclusively in boys.

3 Aug 2023

Penn Medicine and CHOP receive $26 million NIH grant to develop treatments for three rare genetic diseases

A Penn Medicine and Children's Hospital of Philadelphia (CHOP) team will seek to develop treatments for three rare, incurable genetic diseases with the help of a $26 million grant from the National Institutes of Health (NIH).

1 Aug 2023

Study highlights metabolite targets for depression prevention that are easily modifiable through diet interventions

Researchers used a UHPLC and mass spectrometry-based Metabolon platform to identify and characterize circulating metabolites associated with depression.

1 Aug 2023

PCORI awards $208 million to fund 17 new comparative clinical effectiveness research studies

The Patient-Centered Outcomes Research Institute (PCORI) today announced funding awards totaling $208 million to support 17 new comparative clinical effectiveness research (CER) studies, including four trials of particularly large scale and scope tackling complex questions.

18 Jul 2023

CoRDS and Cure MITO join forces with C-Path to advance research for rare mitochondrial disorders

Critical Path Institute announced today that the Coordination of Rare Diseases based at Sanford Research (CoRDS), in partnership with Cure MITO, will contribute its mitochondrial disorders data from its international patient registry to the C-Path-managed Rare Disease Cures Accelerator-Data and Analytics Platform .

13 Jul 2023

New technique could help identify rare genetic disorders while preserving privacy

Macquarie University researchers have demonstrated a new way of linking personal records and protecting privacy. The first application is in identifying cases of rare genetic disorders. There are many other potential applications across society.

10 Jul 2023

PacBio's Revio long-read sequencing system to help Bioscientia solve complex genetic cases

PacBio, a leading developer of high-quality, highly accurate sequencing solutions, today announced that Bioscientia is using its Revio long-read sequencing system to expand its genomics research projects and sequence several thousand human genomes per year.

10 Jul 2023

Moderna provides an update on regulatory submissions for RSV vaccine candidate, mRNA-1345

Moderna, Inc., a biotechnology company pioneering messenger RNA (mRNA) therapeutics and vaccines, today provided an update on regulatory submissions for mRNA-1345, a vaccine for the prevention of RSV-associated lower respiratory tract disease (RSV-LRTD) and acute respiratory disease (ARD) in adults aged 60 years or older.

10 Jul 2023

Triple combination therapy shows promise in long-term treatment of cystic fibrosis

The mucus in the airways is not as sticky, inflammation in the lungs significantly reduced: Triple combination therapy can achieve these positive, lasting effects in patients with cystic fibrosis (CF).

7 Jul 2023

SPG-15: A Mother's Fight for a Gene Therapy Cure, Maddi's Story

News Medical spoke to the CEO and founder of the Maddi Foundation to gain a patient perspective on how important research in gene therapy is.

3 Jul 2023

Novel computational tool helps analyze complex genetic regions

GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic and clinical insights, today published a paper in Nature Methods, titled "Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes," in which researchers developed a new computational tool, the PanGenome Research-Tool Kit (PGR-TK), for scalable analysis of clinically relevant genes that were previously too complex to analyze.

27 Jun 2023

PacBio collaborates with Radboudumc to explore genetic causes of rare and genetic diseases

PacBio, a leading developer of high-quality, highly accurate sequencing solutions today announced a clinical research study with Radboud University Medical Center (Radboudumc) to explore genetic causes of rare and genetic diseases.

19 Jun 2023

UCL researchers produce first image of the structures that power human cilia

The first image of the structures that power human cilia – the tiny, hairlike projections that line our airways – has been produced by a team involving UCL researchers and could lead to much-needed treatments for people with rare cilial diseases.

13 Jun 2023

New insights into the mechanisms underlying progression of Huntington's disease

New research led by a University of Ottawa Faculty of Medicine team is providing compelling insights into the mechanisms underlying the progression of Huntington's disease in an animal model.

7 Jun 2023

Large-scale comprehensive sequencing helps downstream medical care in newborns

Researchers who lead the world's first comprehensive sequencing program for newborn infants have published the next chapter in the ongoing study of the BabySeq Project, with new findings on infants and families who have been followed for 3-5 years.

6 Jun 2023

New algorithm could improve the search for genetic cause of hereditary diseases

So far, it has not been possible to explain the causes of around half of all rare hereditary diseases. A Munich research team has developed an algorithm that predicts the effects of genetic mutations on RNA formation six times more precisely than previous models.

1 Jun 2023

Study aims to optimize radiotherapy treatment for patients with anal cancer

Reducing the dose and duration of radiotherapy treatments for anal cancer may result in fewer side effects, recent clinical trial results have shown.

15 May 2023

Pioneering AI-based approach identifies rare disease patients using electronic health records

Research paper describes the use of Symptoma's AI-based approach to identify patients with Pompe disease from retrospective electronic health records. The study found a prevalence of one in every 18,427 people for Pompe disease in the greater Salzburg region and established phenotypes for patient cohorts with an onset of symptoms above or below 1 year of age.

11 May 2023

Targeting uncontrolled inflammation may make tumors more responsive to treatment

Van Andel Institute scientists have pinpointed how a specific gene mutation triggers an inflammatory cascade that may drive development of treatment-resistant cancers.

11 May 2023

AI algorithms for rare disease diagnosis ignore the genetic, morphological diversity of humans

Up to 40% of rare diseases show facial alterations that enable researchers to identify some pathologies and they can even help them to establish an early diagnosis.

10 May 2023

Rare Disease News and Research

Study sheds light on mechanisms behind a rare disease found almost exclusively in boys

Penn Medicine and CHOP receive $26 million NIH grant to develop treatments for three rare genetic diseases

Study highlights metabolite targets for depression prevention that are easily modifiable through diet interventions

PCORI awards $208 million to fund 17 new comparative clinical effectiveness research studies

CoRDS and Cure MITO join forces with C-Path to advance research for rare mitochondrial disorders

New technique could help identify rare genetic disorders while preserving privacy

PacBio's Revio long-read sequencing system to help Bioscientia solve complex genetic cases

Moderna provides an update on regulatory submissions for RSV vaccine candidate, mRNA-1345

Triple combination therapy shows promise in long-term treatment of cystic fibrosis

SPG-15: A Mother's Fight for a Gene Therapy Cure, Maddi's Story

Novel computational tool helps analyze complex genetic regions

PacBio collaborates with Radboudumc to explore genetic causes of rare and genetic diseases

UCL researchers produce first image of the structures that power human cilia

New insights into the mechanisms underlying progression of Huntington's disease

Large-scale comprehensive sequencing helps downstream medical care in newborns

New algorithm could improve the search for genetic cause of hereditary diseases

Study aims to optimize radiotherapy treatment for patients with anal cancer

Pioneering AI-based approach identifies rare disease patients using electronic health records

Targeting uncontrolled inflammation may make tumors more responsive to treatment

AI algorithms for rare disease diagnosis ignore the genetic, morphological diversity of humans

Industry Focus eBook - Cell biology (5th edition) eBook

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo

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