Rare Disease News and Research

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Same cellular mechanism implicated in cystic fibrosis and rare disease cystinosis

University of Michigan researchers have discovered that the same cellular mechanism involved in a form of cystic fibrosis is also implicated in a form of a rare disease called cystinosis.

28 Aug 2023

Study shows not all adrenal carcinoma patients need mitotane after surgery

After the complete tumor resection, not all patients with an adrenocortical carcinoma require the previous standard therapy Mitotane. Professors Martin Fassnacht and Massimo Terzolo show this in a clinical trial.

25 Aug 2023

Long-read sequencing reveals new details of Bartter syndrome type 3

Bartter syndrome type 3 is the result of several structural variants in the genome. By using long-read sequencing, Janine Altmüller and her team from the Max Delbrück Center, the BIH and University Hospital Cologne mapped out the rare disease in unprecedented detail.

23 Aug 2023

People with compromised immune systems less likely to have COVID-19 antibodies, study finds

New research has identified which people with compromised immune systems are less likely to have COVID-19 antibodies - making them more vulnerable to a severe infection.

23 Aug 2023

Study investigates the impact of rapid genome sequencing for infantile epilepsy

Epilepsy in infants ranges in severity and can leave caregivers with questions about their child's health. While genetic testing to help determine the cause of epilepsy is possible, comprehensive testing does not always happen routinely and it can take a long time, leaving families waiting for answers.

17 Aug 2023

Duchenne and other dystrophinopathies research receives major boost from new collaboration

Critical Path Institute's (C-Path) Duchenne Regulatory Science Consortium (D-RSC) and the Duchenne Data Foundation (DDF) are excited to announce a joint collaboration aimed at advancing research and improving healthcare for individuals with Duchenne muscular dystrophy (DMD) and other dystrophinopathies (conditions linked to mutations in the DMD gene).

10 Aug 2023

3D analysis of inner ear provides insights into Ménière's disease

Elaborate 3D analysis of the inner ear now, for the first time, provide insights into volume changes of special structures in sufferers of the so-called Ménière's disease.

7 Aug 2023

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

Rare Disease News and Research

Same cellular mechanism implicated in cystic fibrosis and rare disease cystinosis

Study shows not all adrenal carcinoma patients need mitotane after surgery

Long-read sequencing reveals new details of Bartter syndrome type 3

People with compromised immune systems less likely to have COVID-19 antibodies, study finds

Study investigates the impact of rapid genome sequencing for infantile epilepsy

Duchenne and other dystrophinopathies research receives major boost from new collaboration

3D analysis of inner ear provides insights into Ménière's disease

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

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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