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Researchers identify a promising method to stop COVID-19 infection

While the world waits eagerly for a safe and effective vaccine to prevent infections from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus behind the COVID-19 pandemic, researchers also are focusing on better understanding how SARS-CoV-2 attacks the body in the search for other means of stopping its devastating impact.

8 Oct 2020

New, rare genetic form of dementia discovered

A new, rare genetic form of dementia has been discovered by a team of Penn Medicine researchers. This discovery also sheds light on a new pathway that leads to protein build up in the brain -- which causes this newly discovered disease, as well as related neurodegenerative diseases like Alzheimer's Disease -- that could be targeted for new therapies.

1 Oct 2020

Cincinnati Children's research leads to approval of new drug for hypereosinophilic syndrome

Following two decades of research on a group of rare diseases called hypereosinophilic syndrome at Cincinnati Children's Hospital Medical Center, the U.S. Food and Drug Administration has approved the drug Nucala (mepolizumab) for use in the treatment of patients with hypereosinophilic syndrome.

28 Sep 2020

Gruthan Bioscience to develop new class of cholesterol-lowering drugs

Gruthan Bioscience, LLC, a Medical University of South Carolina startup based in Charleston, South Carolina, received a Small Business technology Transfer (STTR) award from the National Heart, Blood and Lung Institute in August to take the next step in developing a novel class of cholesterol-lowering drugs to treat familial hypercholesterolemia.

24 Sep 2020

Providing personalized care for bleeding disorders

An interview with Dr. Carmen Escuriola-Ettingshausen MD, Mörfelden-Walldorf, Germany on providing personalized care for bleeding disorders.

From Takeda 21 Sep 2020

Providing personalized care for bleeding disorders

An interview with Dr. Carmen Escuriola-Ettingshausen MD, Mörfelden-Walldorf, Germany on providing personalized care for bleeding disorders.

From Takeda 21 Sep 2020

Cardiac MRI effective in identifying inflammation of the heart muscle in athletes

A cardiac MRI is effective in identifying inflammation of the heart muscle in athletes and can help determine when those who have recovered from COVID-19 can safely return to play in competitive sports, according to a new study by researchers at The Ohio State University Wexner Medical Center.

12 Sep 2020

Oxytocinergic and vasopressinergic substances in the brain are involved in guiding social behavior

Research conducted by the University of Valencia (UV) and the Jaume I University of Castellón (UJI), among other institutions, has found alterations to the structure of the brain's nonapeptidergic systems, social behavior and the production of pheromones, traits that reveal sexual dimorphism, in male mice with a lack of the Mecp2 gene.

4 Sep 2020

Advanced digital platform aims to improve outcomes for people with Angelman syndrome

An advanced open-source digital platform developed by QUT researchers is being used to build a patient registry aimed at improving outcomes and health service provision for children and adults around the world living with the rare disease Angelman syndrome.

3 Sep 2020

Triple therapy increases response rates in patients with Severe Aplastic Anemia

The European Society for Blood and Marrow Transplantation (EBMT), Europe's collaborative peer network of professionals working in the field of stem cell transplantation and cellular therapy, announced today the results of the phase III RACE trial during EBMTs virtual 46th Annual Meeting. Preliminary data show that adding Eltrombopag to standard immunosuppressive treatment is safe and increases response rates in patients with Severe Aplastic Anaemia.

31 Aug 2020

Severe and fatal COVID-19 is rare in children

Now, a new study by researchers at the Universities of Edinburgh and Liverpool, Imperial College London, and the Royal Hospital for Children, Glasgow in the United Kingdom has shown that children and teenagers are less likely than adults to develop severe COVID-19 or die from the disease.

30 Aug 2020

UBC discovery may offer new treatment possibility for women with rare form of ovarian cancer

A recent finding by researchers at the BC Cancer Research Institute and the University of British Columbia may offer a new treatment possibility for people diagnosed with a rare and aggressive form of ovarian cancer.

26 Aug 2020

Combination therapy effective for patients with cholangiocarcinoma marked by BRAF mutations

In a Phase II trial led by researchers at The University of Texas MD Anderson Cancer Center, the combination of dabrafenib, a BRAF inhibitor, and trametinib, a MEK inhibitor, achieved a 51% overall response rate (ORR) in patients with cholangiocarcinoma marked by the BRAF V600E mutation.

18 Aug 2020

New test could help predict survival of women with ovarian cancer

A global team of medical researchers led by UNSW have developed a test that could help to predict survival for women diagnosed with ovarian cancer, and pave the way towards personalized treatment.

17 Aug 2020

Proteinuria reduction slows kidney decline in patients with focal segmental glomerulosclerosis

Reducing the amount of protein in the urine of patients with focal segmental glomerulosclerosis (FSGS), a rare disease in which scar tissue forms on the parts of the kidneys that filter waste from the blood, can significantly slow declines in kidney function and extend time before patients' kidneys fail, a new analysis by a Children's National Hospital researcher and her colleagues shows.

10 Aug 2020

Researchers use patient-specific tumor organoid to optimize chemotherapy for appendix, colon tumors

A patient-specific tumor organoid model is being used to identify the most effective chemotherapy protocol to treat appendix and colon tumors, a personalized medicine approach that is showing promise.

7 Aug 2020

Screening for pancreatic cancer using artificial intelligence

Dr. Ananya Malhotra speaks to News-Medical about her research into how pancreatic cancer prognosis could be improved by using artificial intelligence.

3 Aug 2020

UOttawa's Faculty of Medicine awards 58 clinical research chairs to top clinician-scientists

The Faculty of Medicine has awarded 58 clinical research chairs to top clinician-scientists in a five-year, $40 million investment to drive clinical research excellence and enhance health and patient care.

30 Jul 2020

Yale researchers uncover potential treatment for lethal Wolfram Syndrome

Yale pharmacology professor Barbara Ehrlich and her team have uncovered a mechanism driving a rare, lethal disease called Wolfram Syndrome and also a potential treatment. Their findings appear in the July 6 edition of Proceedings of the National Academy of Sciences.

16 Jul 2020

Researchers design new model to predict life expectancy of patients with Creutzfeldt‐Jakob disease

Creutzfeldt-Jakob disease (CJD) is a serious minority neurodegenerative disease, with an annual rate of 1.5 cases per million inhabitants, which represents approximately 11 cases each year in Catalonia. CJD is a very rapid and fatal disease, in fact, the mean life expectancy is six months after diagnosis.

15 Jul 2020

Rare Disease News and Research

Researchers identify a promising method to stop COVID-19 infection

New, rare genetic form of dementia discovered

Cincinnati Children's research leads to approval of new drug for hypereosinophilic syndrome

Gruthan Bioscience to develop new class of cholesterol-lowering drugs

Providing personalized care for bleeding disorders

Providing personalized care for bleeding disorders

Cardiac MRI effective in identifying inflammation of the heart muscle in athletes

Oxytocinergic and vasopressinergic substances in the brain are involved in guiding social behavior

Advanced digital platform aims to improve outcomes for people with Angelman syndrome

Triple therapy increases response rates in patients with Severe Aplastic Anemia

Severe and fatal COVID-19 is rare in children

UBC discovery may offer new treatment possibility for women with rare form of ovarian cancer

Combination therapy effective for patients with cholangiocarcinoma marked by BRAF mutations

New test could help predict survival of women with ovarian cancer

Proteinuria reduction slows kidney decline in patients with focal segmental glomerulosclerosis

Researchers use patient-specific tumor organoid to optimize chemotherapy for appendix, colon tumors

Screening for pancreatic cancer using artificial intelligence

UOttawa's Faculty of Medicine awards 58 clinical research chairs to top clinician-scientists

Yale researchers uncover potential treatment for lethal Wolfram Syndrome

Researchers design new model to predict life expectancy of patients with Creutzfeldt‐Jakob disease

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