Rare Disease News and Research

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Scientists create patient-specific model to identify most effective treatment for appendix cancer

Scientists at the Wake Forest Institute for Regenerative Medicine have recently developed a process that may change the way cancer of the appendix is treated in the future.

17 Dec 2018

TGen receives PayPal grant to underwrite costs of genetic tests for children with rare disorders

The Translational Genomics Research Institute, an affiliate of City of Hope, today announced a $10,000 grant from PayPal Gives, which will help underwrite the costs of genetic tests for children with rare disorders.

17 Dec 2018

CTF along with NTAP and Sage announce first-ever open data portal for neurofibromatosis

The Children's Tumor Foundation, together with the Neurofibromatosis Therapeutic Acceleration Program and Sage Bionetworks, has announced the first-ever open data portal for scientific research results in the field of neurofibromatosis.

17 Dec 2018

Study provides new understanding of mysterious 'hereditary swelling'

An upper arm that swells to twice its normal size. A stomach that inexplicably swells up causing colic pain, vomiting or diarrhea. Or a life-threatening variant with severe swelling of the face, lips, tongue and larynx, bringing the risk of obstructed airways and death by suffocation.

11 Dec 2018

Insilico Medicine to introduce 'Cure a disease in a year' program at Biodata World Congress 2018

Insilico Medicine, a Rockville-based company developing the end-to-end drug discovery and real world evidence pipeline utilizing the next generation artificial intelligence, will present its research and introduce the "Cure a disease in a year" program at the World's leading congress for big data in precision medicine - Biodata World Congress 2018.

19 Nov 2018

Treating children with 'bubble baby disease'

An international study published in the journal Blood by researchers led by Dr. Elie Haddad, a pediatric immunologist and researcher at CHU Sainte-Justine and professor at Université de Montréal, highlights the urgent need to develop better treatment strategies for patients suffering from severe combined immune deficiency.

15 Nov 2018

Researchers create new accessible staging system to predict survival for patients with AL amyloidosis

A new staging system developed with a more accessible test to predict the chance of survival in patients living with light chain (AL) amyloidosis.

8 Nov 2018

Geneticists decipher new gene responsible for rare form of hair loss

Hypotrichosis simplex leads to progressive hair loss already in childhood. A team of researchers led by human geneticists at the University Hospital of Bonn has now deciphered a new gene that is responsible for this rare form of hair loss.

6 Nov 2018

New form of therapy may stop or reverse progressive vision loss

A new form of therapy may halt or even reverse a form of progressive vision loss that, until now, has inevitably led to blindness.

1 Nov 2018

Goethe University plays important role in rare disease research

Patients with rare diseases often go through a long history of suffering before finally receiving an accurate diagnosis.

31 Oct 2018

FOTIVDA expected to be included in new ESMO guidelines for advanced renal cell carcinoma

EUSA Pharma welcomes the news that FOTIVDA (tivozanib) is expected to be included in the upcoming European Society of Medical Oncology clinical practice guidelines for advanced renal cell carcinoma, anticipated to be published at the end of this year.

22 Oct 2018

X4 Pharmaceuticals announces clinical data of X4P-001-IO and Opdivo in patients with clear cell renal cell carcinoma

X4 Pharmaceuticals, a clinical stage biotechnology company developing novel CXCR4 antagonists to improve immune cell trafficking to treat cancer and rare disease, today announced results from a pilot study of X4P-001-IO in combination with Opdivo (nivolumab) in patients with clear cell renal cell carcinoma who are non-responsive to the anti-PD-1 checkpoint inhibitor Opdivo alone.

22 Oct 2018

Leadiant Biosciences announces FDA approval of Revcovi for treating pediatric, adult ADA-SCID patients

Leadiant Biosciences, Inc. today announced that the Food and Drug Administration has granted approval to Revcovi (elapegademase-lvlr) injection in the U.S. Revcovi is a new enzyme replacement therapy for the treatment of adenosine deaminase severe combined immune deficiency in pediatric and adult patients.

7 Oct 2018

Alnylam announces positive results from Phase 1/2 study of lumasiran for treating primary hyperoxaluria-1

Alnylam Pharmaceuticals, Inc., the leading RNAi therapeutics company, announced today updated positive results from its Phase 1/2 clinical study of lumasiran, an investigational, subcutaneously administered RNAi therapeutic targeting glycolate oxidase for the treatment of primary hyperoxaluria type 1.

4 Oct 2018

Alnylam submits CTA application to MHRA to initiate Phase 1/2 study of ALN-AAT02

Alnylam Pharmaceuticals, Inc., the leading RNAi therapeutics company, announced today that it has submitted a Clinical Trial Authorization application to the Medicines and Healthcare products Regulatory Agency to initiate a Phase 1/2 study of ALN-AAT02, an investigational RNAi therapeutic targeting alpha-1 antitrypsin for the treatment of AAT deficiency-associated liver disease.

3 Oct 2018

New project identifies immune checkpoint inhibition as potential treatment for angiosarcomas

Angiosarcoma Project, a patient-partnered genomics study, identified immune checkpoint inhibition as a potential treatment option for patients with angiosarcomas of the head, face, neck, or scalp, according to data presented at the fourth CRI-CIMT-EATI-AACR International Cancer Immunotherapy Conference.

1 Oct 2018

Lumos acquires license for LUM-201 drug that promotes secretion of growth hormone

Lumos Pharma, Inc., a clinical stage biopharmaceutical company focused on development and commercialization of therapeutics for rare and neglected diseases, today announced that it has acquired the license for LUM-201, an investigational orally administered small molecule that promotes secretion of growth hormone from the pituitary gland, from Ammonett Pharma LLC.

24 Sep 2018

Alexion announces positive results from Phase 3 PREVENT study of Soliris in patients with NMOSD

Alexion Pharmaceuticals, Inc. today announced positive topline results from the Phase 3 PREVENT study of Soliris in patients with anti-aquaporin-4 auto antibody-positive neuromyelitis optica spectrum disorder.

24 Sep 2018

Salk research in yeast leads to serendipitous finding about hypomyelinating leukodystrophy

Studying the fundamental aspects of biology can sometimes lead to unexpected findings that directly relate to human disease. In one of the latest examples of scientific serendipity, researchers from the Salk Institute found that an important quality control mechanism in baker's yeast is closely connected to hypomyelinating leukodystrophy, a debilitating disease found in children.

17 Sep 2018

Investigators identify group of blood metabolites that could help detect autism

Investigators at the UC Davis MIND Institute and NeuroPointDX, a division of Stemina Biomarker Discovery, have identified a group of blood metabolites that could help detect some children with autism spectrum disorder

6 Sep 2018

Rare Disease News and Research

Scientists create patient-specific model to identify most effective treatment for appendix cancer

TGen receives PayPal grant to underwrite costs of genetic tests for children with rare disorders

CTF along with NTAP and Sage announce first-ever open data portal for neurofibromatosis

Study provides new understanding of mysterious 'hereditary swelling'

Insilico Medicine to introduce 'Cure a disease in a year' program at Biodata World Congress 2018

Treating children with 'bubble baby disease'

Researchers create new accessible staging system to predict survival for patients with AL amyloidosis

Geneticists decipher new gene responsible for rare form of hair loss

New form of therapy may stop or reverse progressive vision loss

Goethe University plays important role in rare disease research

FOTIVDA expected to be included in new ESMO guidelines for advanced renal cell carcinoma

X4 Pharmaceuticals announces clinical data of X4P-001-IO and Opdivo in patients with clear cell renal cell carcinoma

Leadiant Biosciences announces FDA approval of Revcovi for treating pediatric, adult ADA-SCID patients

Alnylam announces positive results from Phase 1/2 study of lumasiran for treating primary hyperoxaluria-1

Alnylam submits CTA application to MHRA to initiate Phase 1/2 study of ALN-AAT02

New project identifies immune checkpoint inhibition as potential treatment for angiosarcomas

Lumos acquires license for LUM-201 drug that promotes secretion of growth hormone

Alexion announces positive results from Phase 3 PREVENT study of Soliris in patients with NMOSD

Salk research in yeast leads to serendipitous finding about hypomyelinating leukodystrophy

Investigators identify group of blood metabolites that could help detect autism

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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