Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Hot Topics of the Day|PHGKB
Search PHGKB:

Archive

Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

Sign up MyPHGKB to receive the daily hot topic email alert.

Search Archive:
Archived Hot Topics of the Day By Date
6614 hot topic(s) found with the query "Rare diseases"

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses
KN James et al NPJ Genomic Medicine, August 11, 2020 (Posted: Aug-13-2020 10AM)


Rare Diseases and COVID-19
CDC COVID-19 Genomics and Precision Health Portal, August 2020 Brand (Posted: Aug-08-2020 10AM)

This section of the portal lists all rare diseases, many of which are genetic diseases, that have been connected to COVID-19 in the literature. As of today, there are 84 diseases/conditions from the list of nearly 7,000 rare diseases extracted from the NIH website that are related to COVID-19 literature or news and reports.


Inherited cardiac arrhythmias
PJ Shwartz et al, Nat Rev Dis Primers, July 2020 (Posted: Jul-26-2020 7AM)

The main inherited cardiac arrhythmias are long QT syndrome, short QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. These rare diseases are often the underlying cause of sudden cardiac death in young individuals and result from mutations in several genes encoding ion channels or proteins involved in their regulation.


Children’s rare disease cohorts: an integrative research and clinical genomics initiative
S Rockowitz et al, NPJ Genomic Medicine, July 6, 2020 (Posted: Jul-09-2020 9AM)

We have developed a broadly sharable database of 2441 exomes from 15 pediatric rare disease cohorts, with major contributions from early onset epilepsy and early onset inflammatory bowel disease. All sequencing data is integrated and combined with phenotypic and research data in a genomics learning system (GLS).


It will consume your life: 4 families' take on rare diseases
G Kolata, NY Times, July 7, 2020 (Posted: Jul-08-2020 6AM)

Most seeking a cure for a rare genetic disease hope to recruit scientists and companies to do the work. But one determined couple took another route. They went back to school and became scientists themselves.


Ending the Diagnostic Odyssey—Is Whole-Genome Sequencing the Answer?
AC Wu et al. JAMA Pediatrics, June 2020 (Posted: Jul-01-2020 8AM)

Time until diagnosis of rare diseases could be as long as 5 to 30 years through current standards of care.1 Genomic tests early in life could shorten the time to medical diagnosis, curtailing the odyssey. A WGS test traditionally takes weeks to return results, which can delay needed treatment.


The use of machine learning in rare diseases: a scoping review
J Schaefer et al, Orphanet J Rare Dis, June 9, 2020 (Posted: Jun-11-2020 8AM)

Only a small proportion of studies evaluated their algorithms. As input data, images (32.2%), demographic data (27.0%) and “omics” data (26.5%) were used most frequently. Most studies used machine learning for diagnosis (40.8%) or prognosis (38.4%) whereas studies aiming to improve treatment were relatively scarce (4.7%). Patient numbers in the studies were small.


Automated syndrome diagnosis by three-dimensional facial imaging
B Hallgrimsson et al, Genetics in Medicine, June 1, 2020 (Posted: Jun-01-2020 10AM)

We analyzed variation in three-dimensional (3D) facial images of 3327 subjects with 396 different syndromes, 727 of their relatives, and 3003 unrelated, unaffected subjects. Machine learning correctly classified diagnoses with 96% accuracy. Considering both syndromic and unrelated, unaffected subjects together, balanced accuracy was 73% and mean sensitivity 49%.


COVID-19 Disrupting Care for Nine of 10 People with Rare Condition
Global Genes, May 2020 (Posted: May-17-2020 7AM)

As hospitals have curtailed services to focus on responding to the pandemic and minimizing the risk of infecting people, the survey found that six in 10 rare disease patients said they did not have access to medical therapies at home or at the hospital anymore, such as infusions, chemotherapy, and hormonal treatment.


NIH-supported research survey to examine impact of COVID-19 on rare diseases community
NIH, May 7, 2020 Brand (Posted: May-08-2020 8AM)

For the millions of people living with a rare disease, the novel coronavirus disease COVID-19 presents challenges, from potential reduced access to needed medical care to possible heightened anxiety and stress. A new online survey aims to find out how the COVID-19 pandemic is impacting individuals with rare diseases, their families and their caregivers.


Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants
H Wang et al, NPJ Genomic Medicine, May 6, 2020 (Posted: May-07-2020 6AM)

Of 33 enrolled infants, 23 received positive results with rapid TES. Rapid TES enabled faster time to diagnosis, which resulted in an overall decrease in length of hospital stay. The 24-h TES can serve as a rapid response tool for patients with suspected monogenic disorders.


Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions
HS Smith et al, Genetics in Medicine, April 27, 2020 (Posted: Apr-27-2020 4PM)

We studied newborns and infants admitted to intensive care with a suspected genetic etiology within the first year of life. We compared patients who received ES as part of a diagnostic workup (ES cohort, n?=?368) with clinically similar patients who did not receive ES (No-ES cohort, n?=?368). No differences in diagnostic yields were found.


New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Hartley Taila et al. Annual review of genomics and human genetics 2020 Apr (Posted: Apr-17-2020 9AM)

The current diagnostic paradigm is not well designed for rare diseases, especially for patients who remain undiagnosed after the initial investigations. Given recent advancements in such technologies and international initiatives, the prospect of identifying a molecular diagnosis for all patients with rare diseases has never been so attainable


A Genetic Test For A Microscopic Problem Came With A Jumbo Price Tag
L Szabo, NPR, March 31, 2020 (Posted: Mar-31-2020 8AM)


Comparison of US Federal and Foundation Funding of Research for Sickle Cell Disease and Cystic Fibrosis and Factors Associated With Research Productivity
F Farook et al, JAMA Network Open, March 27, 2020 (Posted: Mar-28-2020 8AM)

This cross-sectional study of research funding and outputs for cystic fibrosis and sickle cell disease found that expenditures were greater for cystic fibrosis compared with sickle cell disease. Significantly more research articles and drug approvals were found for cystic fibrosis compared with sickle cell disease.


Encouraging News for Kids with Neurofibromatosis Type 1
NIH Director's Blog, March 24, 2020 Brand (Posted: Mar-25-2020 10AM)


Small Data Challenges of Studying Rare Diseases
AA Mitani et al, JAMA Network Open, March 23, 2020 (Posted: Mar-24-2020 7AM)


NCATS Rare Diseases Are Not Rare! 2020 Challenge Details
NCATS, March 2020 Brand (Posted: Mar-04-2020 8AM)

The goals of this Challenge are: 1) to raise awareness for all rare diseases in a collective manner; 2) to bring attention to the many people with rare diseases; 3) to highlight the need for research and the development of new treatments; 4)to build and foster collaborations across the community.


Rare Disease in TV Series: Stranger Things, House, Call the Midwife
R Lewis, PLOS Blogs February 27, 2020 (Posted: Mar-01-2020 7AM)

One in ten of us have a rare disease, adding up to 400 million people worldwide, according to Global Genes. Some other stats:1 in 2 people with a rare illness is a child, and 3 in 10 of them won’t live beyond age 5; 8 in 10 of the 7000+ rare diseases are due to mutation; 95% of rare diseases do not have FDA-approved treatment


Novel lab-on-a-chip blood tests could greatly expand newborn exams for rare diseases
NHLBI, February 27, 2020 Brand (Posted: Feb-29-2020 9AM)

A suite of lab-on-a-chip blood tests, each capable of quickly and accurately screening for potentially dozens of diseases in newborns, including rare diseases. The tests collect just a tiny fraction of the amount of blood now used in conventional lab tests, and the results can be read within minutes and transmitted almost anywhere with a mobile phone


Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span.
Kenborg Line et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb (Posted: Feb-29-2020 9AM)


Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Chen Xiao et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb (Posted: Feb-20-2020 10AM)


Determining the incidence of rare diseases.
Bainbridge Matthew N et al. Human genetics 2020 Feb (Posted: Feb-19-2020 9AM)

We propose a new method to determine incidence of rare, severe, recessive disease in non-consanguineous populations that use known allele frequencies, estimate the combined allele frequency of observed alleles and estimate the number of causative alleles that are thus far unobserved in a disease cohort.


The Angiosarcoma Project: enabling genomic and clinical discoveries in a rare cancer through patient-partnered research
CA Painter et al, Nature Medicine, February 10, 2020 (Posted: Feb-11-2020 9AM)

This patient-partnered approach has catalyzed an opportunity to discover the etiology and potential therapies for patients with angiosarcoma. Collectively, this proof-of-concept study demonstrates that empowering patients to directly participate in research can overcome barriers in rare diseases and can enable discoveries.


Initiative to fund 30 patient groups, aiming to build a model for tackling rare diseases
R Robbins, February 3, 2020 (Posted: Feb-04-2020 8AM)


Noncompletion and nonpublication of trials studying rare diseases: A cross-sectional analysis.
Rees Chris A et al. PLoS medicine 2019 Nov (11) e1002966 (Posted: Jan-20-2020 8AM)

In this study, over half of clinical trials initiated for rare diseases were either discontinued or not published 4 years after completion, resulting in large numbers of patients with rare diseases exposed to interventions that did not lead to informative findings. Concerted efforts are needed to ensure participation and completion of rare diseases trials.


Rare Disease Day 2020
NIH, February 28, 2020 Brand (Posted: Jan-15-2020 8AM)

The goals are to highlight rare diseases research and the development of diagnostics and treatments; initiate a dialogue among public and private researchers, patients, patient advocates, and policymakers; exchange the latest rare diseases information with stakeholders to advance research and therapeutic efforts; put a personal face on rare diseases.


New DNA tests mean babies and children can be diagnosed with rare diseases in just days
L Donnelly, The Telegraph, January 2020 (Posted: Jan-07-2020 8AM)

The NHS is promising a “genomic revolution,” with rare child diseases diagnosed in days, with far more accuracy than has previously possible. So far, 80 families have been offered the new tests since rollout began in October. Almost half were given a diagnosis within days - twice the rate achieved by standard tests, which take months.


A call for global action for rare diseases in Africa.
Baynam Gareth S et al. Nature genetics 2019 Dec (Posted: Jan-02-2020 9AM)


Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.
Salfati Elias L et al. Genome medicine 2019 Dec (1) 83 (Posted: Dec-19-2019 9AM)

Initial analysis revealed diagnostic variants in 13 rare disease cases (25.4%) and 5 sudden death cases (10%). Re-analysis resulted in the identification of additional diagnostic variants in 3 rare disease cases (5.9%) and 1 sudden unexplained death case (2%), which increased our molecular diagnostic yield to 31.4% and 12%, respectively.


Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi Eva et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Dec (Posted: Dec-19-2019 9AM)

key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders. Genetic testing helped identify an etiological diagnosis in the majority of patients.


She began to talk — then mysteriously fell silent. Months later her parents learned why.
SG Boodman, Washington Post, December 2019 (Posted: Dec-12-2019 9AM)

Genetic sequencing revealed a mutation in the MECP2 gene, which is necessary for brain function. The mutation is associated with Rett Syndrome, a degenerative and incurable neurodevelopmental disorder that almost exclusively affects girls.


Improving rare disease classification using imperfect knowledge graph.
Li Xuedong et al. BMC medical informatics and decision making 2019 Dec 19(Suppl 5) 238 (Posted: Dec-11-2019 9AM)


Genomic Science Kept My Boys from Going Blind - A rare disease almost took their eyesight, but before their world went dark, a medical miracle happened.
K Papiro, WSJ, November 2019 (Posted: Dec-02-2019 8AM)


Grants for Rare Disease Research
F Sankar, JAMA< November 19, 2019 (Posted: Nov-21-2019 7AM)

The FDA recently awarded $15 million over the next 4 years to support clinical research aimed at developing new drugs, devices, and medical foods for patients with rare diseases. The grants will support trials that enroll children with a variety of rare diseases, including Duchenne muscular dystrophy (DMD), sickle cell disease, and Fanconi anemia.


Pilot study of EVIDENCE: High diagnostic yield and clinical utility of whole exome sequencing using an automated interpretation system for patients with suspected genetic disorders
BGH Seo et al, IORXIV, November 2019 (Posted: Nov-18-2019 9AM)

A new, automated variant interpretation system facilitated the diagnosis of various genetic diseases with a 51% improvement in diagnostic yield. DNA from 330 probands (age range, 0–68 years) with suspected genetic disorders were subjected to WES. Candidate variants were identified by EVIDENCE and confirmed by testing family members and/or clinical reassessments.


One Little Girl’s Story Highlights the Promise of Precision Medicine
F Collins, NIH director's blog, October 23, 2019 Brand (Posted: Oct-24-2019 8AM)

No treatment existed for Mila’s condition. So, in an effort to meet that urgent need, Timothy Yu and his colleagues at Boston Children’s Hospital set forth on a bold and unprecedented course of action. In less than a year, they designed a drug that targeted Mila’s unique mutation.


NIH’s All of Us Partners with HudsonAlpha on Long-Read Sequencing Project
Clinical Omics, October 18, 2019 (Posted: Oct-21-2019 10AM)

The NIH’s All of Us Research Program will assess the use of DNA sequencing technologies for diagnosis and treatment of common and rare diseases. The project will use long-read whole genome sequencing technologies to generate genetic data on about 6,000 samples from participants of different backgrounds.


Every Diagnosis Matters
Global Genes, October 17, 2019 (Posted: Oct-19-2019 7AM)


A Drug Was Made For Just One Child, Raising Hopes About Future Of Tailored Medicine
A Chen, WBUR, October 11, 2019 (Posted: Oct-15-2019 9AM)

“This is a kind of fantasy that we all had at the beginning of this field more than 30 years ago. Reading this paper is like reading [science-fiction author] Jules Verne. It’s a futuristic experiment.” The apparent success of milasen is stunning proof of how designer genetic drugs, known as antisense oligonucleotides, can be personalized for individuals.


Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
H Lee et al, GIM, October 14, 2019 (Posted: Oct-14-2019 4PM)

The study investigated the value of transcriptome sequencing (RNAseq) in ascertaining the consequence of DNA variants on RNA transcripts to improve the diagnostic rate from exome or genome sequencing for undiagnosed Mendelian diseases spanning a wide spectrum of clinical indications.


Drug Regulation in the Era of Individualized Therapies.
Woodcock Janet et al. The New England journal of medicine 2019 Oct (Posted: Oct-13-2019 1PM)

In these “N-of-one” situations, what type of evidence is needed before exposing a human to a new drug? Even in rapidly progressing, fatal illnesses, precipitating severe complications or death is not acceptable, so what is the minimum assurance of safety that is needed? How persuasive should the mechanistic or functional data be?


Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.
Kim Jinkuk et al. The New England journal of medicine 2019 Oct (Posted: Oct-11-2019 0PM)


Long-term Antibiotics Ease Symptoms of Genetic Lung Disorder
I Hein, Medscape, October 4, 2019 (Posted: Oct-06-2019 2PM)

Primary ciliary dyskinesia is an autosomal recessive genetic disorder that presents in about one in 16,000 births in the United States. Continuous maintenance therapy with azithromycin reduces exacerbations by 50%, according to the results from the BESTCILIA trial.


Will genome sequencing bring precision medicine for all?
A Anthony, The Guardian, September 28, 2019 (Posted: Sep-30-2019 8AM)

There are conditions, particularly rare diseases such as childhood developmental disorders, where genome sequencing is extremely beneficial, and may even be life-saving for some individuals. There are also conditions – many common diseases, for example – where there is currently no evidence that genome sequencing is beneficial to individuals.


A framework for the investigation of rare genetic disorders in neuropsychiatry
SJ Sanders et al, Nature Medicine, September 23, 2019 (Posted: Sep-24-2019 9AM)

De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of RGDs.


Ehlers-Danlos syndromes
N Ghali et al, BMJ, September 18, 2019 (Posted: Sep-23-2019 7AM)

Ehlers-Danlos syndromes are inherited connective tissue disorders with variable severity; features include skin fragility, joint hypermobility, and rupture of blood vessels and internal organs. The diagnosis should be considered in patients with easy bruising, poor scar formation, hyperextensible skin, joint hypermobility, joint pains, and arterial or bowel rupture.


Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
SN Wakap et al, Eur J Hum Genetics, September 16, 2019 (Posted: Sep-17-2019 7AM)

Data from Orphanet shows a conservative evidence-based point estimate of the prevalence of rare diseases of 3.5-5.9% of the population, or 263-446 million persons globally.


After nearly dying five times, a young doctor learned to treat himself. Now he wants to help others with rare disease
M Herper, StatNews, September 12, 2019 (Posted: Sep-16-2019 8AM)

"There are over 1,500 drugs that are already FDA-approved. And many of them have activity against many different cell types, signaling pathways, proteins, and genes that are important in a number of diseases. And of course, there’s no guarantee that there’s going to be this myriad of treatments that we didn’t know about. But I definitely have hope."


This med student was given last rites before finding a treatment that saved his life. His method could help millions
R Pryor, CNN, September 14, 2019 (Posted: Sep-15-2019 8AM)

He was battling Castleman disease, a rare autoimmune disorder involving an overgrowth of cells in the body's lymph nodes. It wasn't the first time a relapse had threatened his life. Massive "shock and awe" chemotherapy regimes had helped him narrowly escape death during four previous attacks, but each new assault on his body weakened him.


Children with rare inherited condition to benefit from drug through managed access agreement
NICE, UK, September 11, 2019 (Posted: Sep-12-2019 7AM)

NICE’s Highly Specialized Technology committee is supporting a positive recommendation for cerliponase alfa (Brineura, BioMarin) for children with neuronal ceroid lipofuscinosis type 2 (CLN2, or Batten disease) – a very rare inherited condition affecting between one and six babies each year in the UK – in the context of a managed access agreement.


When You Don’t Know, You Feel Alone in the World’ The odyssey of the undiagnosed.
DE Bechard, Stanford Magazine, Summer 2019 (Posted: Sep-04-2019 5AM)

In both Carson and Chase, the MECR gene from their mother didn’t function. The Stanford team established that the MECR gene from their father—though intact—wasn’t expressed. Since each parent carried one functioning copy of the gene, neither of them had MEPAN. There was a 50 percent chance that each parent would pass on his or her single mutation.


Improving the Understanding of Genetic Variants in Rare Disease With Large-scale Reference Populations.
Whiffin Nicola et al. JAMA 2019 Aug (Posted: Sep-01-2019 7AM)


One Scientist’s Quest to Bring DNA Sequencing to Every Sick Kid
SE Richards, WIRED, August 2019 (Posted: Sep-01-2019 7AM)

Doctors knew Massimo suffered from a type of leukodystrophy, a genetic disorder of the central nervous system that destroys the brain’s white matter. The only option left would be to try to identify the specific gene responsible for his illness and hope that a diagnosis could eventually lead to a treatment—an endeavor that could take years.


Therapeutic advances in SMA.
Ludolph Albert C et al. Current opinion in neurology 2019 Oct (5) 777-781 (Posted: Aug-30-2019 7AM)

Therapeutic advances in 5q-associated SMA have been convincing in the previous years and change the field. This includes newborn screening, changing phenotypes in the treated children, challenges for drug administration in adolescents and adults and the comparison of drug effects. Long-term studies are required.


The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders
Genetics in Medicine, August 28, 2019 (Posted: Aug-29-2019 8AM)

This study describes the cost trajectory of the standard diagnostic care pathway (diagnostic odyssey) for children with suspected genetic disorders. Average annual per-patient costs were estimated using medical records review and a caregiver survey for a cohort of 498 children.


The Genome Empowerment Scale (GEmS): An Assessment of Parental Empowerment in Families with Undiagnosed Disease.
McConkie-Rosell Allyn et al. Clinical genetics 2019 Aug (Posted: Aug-28-2019 7AM)

Genomic sequencing has the potential to diagnose children with difficult to diagnose phenotypes and empower parents to seek next steps for their children. The study presents the validity and reliability of the Genome Empowerment Scale (GEmS), developed using a healthcare empowerment theoretical model.


The $6 Million Drug Claim- New treatments for rare diseases are changing the lives of patients, but the price can reach millions of dollars for a single person.
K Thomas et al, NY Times, August 25, 2019 (Posted: Aug-27-2019 7AM)

Rare diseases affect about 30 million Americans. And although there are no treatments for most rare diseases, new therapies are coming on the market, with some reaching beyond $2 million a year for a single treatment. Of 59 new drugs approved in 2018, more than half, or 34, were for rare diseases. Those treatments are typically the most expensive.


For ‘Diagnosis’ Show, Dr. Lisa Sanders Lets Times Readers Around the World Join in the Detective Work
A Times Magazine columnist credits Sherlock Holmes and global crowdsourcing with helping her solve patients’ mysterious ailments. A Gardiner, NY Times, August 16, 2019 (Posted: Aug-19-2019 8AM)


Development of a measure of genome sequencing knowledge for young people: The kids-KOGS.
Lewis Celine et al. Clinical genetics 2019 Jul (Posted: Aug-01-2019 8AM)

Genome sequencing is increasingly being used to diagnose rare diseases in children; however, no measures exist to evaluate their knowledge of this technology. The study deeveloped a robust measure of knowledge of genome sequencing suitable for use in the pediatric setting as well as for general public education. The target age was 11 to 15 year olds.


The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Schwarze Katharina et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jul (Posted: Jul-31-2019 10AM)


Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Taylor John et al. Genome medicine 2019 Jul (1) 46 (Posted: Jul-29-2019 1PM)

The study reports a consecutive case series of 132 patients (involving 10 medical specialties with 43.2% cases having a neurological disorder) undergoing exome sequencing over a 10-month period.The costs of running the MDT are also reported.


How an AI expert took on his toughest project ever: writing code to save his son’s life
C Ross, Stat News, July 25, 2019 (Posted: Jul-28-2019 4PM)

In the health care system, patients like Buddy are largely invisible. Because their genetic conditions are so rare, doctors know nothing about the underlying disease mechanisms, how to treat them, or how to marshal resources to change those realities. That work largely fell to his parents.


To treat their baby’s rare disorder, the only case of its kind in Canada, a family risks all for a gene-therapy breakthrough
M Devlin, Globe and Mail, July 9, 2019 (Posted: Jul-11-2019 7AM)

As this 18-month-old boy grows up, a degenerative hereditary condition will take away function in his legs, arms and brain. In a race against time, his family has turned to crowdfunding and U.S. researchers to find a therapy. The disorder, SPG50, is a rare form of hereditary spastic paraplegia, marked by the absence of a protein in the AP4M1 gene, and he is the only Canadian known to have it.


Family fights for genetic screening to save others from muscle-wasting disease afflicting their toddler
C Thorbecke, Good Morning America, July 9, 2019 (Posted: Jul-09-2019 8AM)

When Shane was just 10 months old, he was diagnosed with Spinal Muscular Atrophy, a genetic disease that affects the motor nerve cells in the spinal cord, and eventually erodes your ability to eat, walk or even breathe. One of the issues with diagnosing SMA before a baby exhibits symptoms, however, is that the symptoms of the often deadly disease are largely undetectable for the first few months of a baby's life.


Australian Genomics: A Federated Model for Integrating Genomics into Healthcare.
Stark Zornitza et al. American journal of human genetics 2019 Jul (1) 7-14 (Posted: Jul-05-2019 8AM)

Australian Genomics is a national collaborative research partnership of more than 80 organizations piloting a whole-of-system approach to integrating genomics into healthcare that is based on federation principles. The aim of Australian Genomics is to assess the application of genomic testing in healthcare at the translational interface between research and clinical delivery.


DECIPHER: Fuelling Rare Disease Research
Wellcome Sanger Institute Blog, July 3, 2019 (Posted: Jul-03-2019 7AM)

More than 15 years ago, a hospital doctor realized that genetics bringing people?s genetic data together could provide answers for families affected by rare diseases. With the help of the Sanger Institute, the DECIPHER project has been helping families ever since.


Assessing Gene-Environment Interactions in the Study of Rare Diseases
CDC Webinar, August 21, 2019 Brand (Posted: Jun-28-2019 8AM)

The third installment of the 2019 CDC summer public health genomics seminar series. Sign up today to all three seminars, also available for viewing remotely and covering a wide range of topics from infectious disease, big data and rare diseases.


Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
AL Bruel et al, EJHG, June 23, 2019 (Posted: Jun-24-2019 10AM)


Reanalysis of clinical molecular data yields new genetic diagnoses
Eureka Alert, June 19, 2019 (Posted: Jun-20-2019 9AM)


Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseases.
Vieira Taiane Alves et al. Genetics and molecular biology 2019 Jun (Posted: Jun-19-2019 9AM)


PEDIA: prioritization of exome data by image analysis.
Hsieh Tzung-Chien et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun (Posted: Jun-07-2019 0PM)


Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes.
Schofield Deborah et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 May (Posted: Jun-07-2019 10AM)


MultiPLIER: A Transfer Learning Framework for Transcriptomics Reveals Systemic Features of Rare Disease.
Taroni Jaclyn N et al. Cell systems 2019 May 8(5) 380-394.e4 (Posted: May-29-2019 8AM)


Protocol for a scoping review of multi-omic analysis for rare diseases.
Kerr Katie et al. BMJ open 2019 May 9(5) e026278 (Posted: May-15-2019 8AM)


Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
Bick David et al. Journal of medical genetics 2019 Apr (Posted: May-01-2019 9AM)


Montreal doctors’ 'Hail Mary’ treatment could save babies' lives from most common of all rare diseases
J Kerkey, National Post, April 30, 2019 (Posted: Apr-30-2019 1PM)


How pharmaceutical industry financial modelers think about your rare disease
Eric Minikel, Blog, April 29, 2019 (Posted: Apr-30-2019 7AM)


"Deep medicine’ will help everyone, especially people like me with a rare disease
Y Maisel, Stat News, April 26, 2019 (Posted: Apr-26-2019 9AM)


Uncovering Missing Heritability in Rare Diseases.
Maroilley Tatiana et al. Genes 2019 Apr 10(4) (Posted: Apr-24-2019 7AM)


Rare, undiagnosed diseases are relatively common
S Buckles, Mayo Clinic Blog, April 16, 2019 (Posted: Apr-20-2019 8AM)


U Of U Scientists Search DNA To Save A ‘One In A Million’ Boy
By Heather Simonsen, KLS TV, April 8, 2019 (Posted: Apr-10-2019 7AM)


The importance of anthropological methods in the diagnosis of rare diseases.
Rózdzynska-Swiatkowska Agnieszka et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Mar (Posted: Apr-03-2019 9AM)


Can a decision support system accelerate rare disease diagnosis? Evaluating the potential impact of Ada DX in a retrospective study.
Ronicke Simon et al. Orphanet journal of rare diseases 2019 Mar 14(1) 69 (Posted: Mar-27-2019 8AM)


FDA Issues Draft Guidance on Natural History Studies for Rare Diseases
Global Genes, March 25, 2019 (Posted: Mar-26-2019 8AM)


A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Boycott Kym M et al. Cell 2019 Mar (1) 32-37 (Posted: Mar-23-2019 9AM)


Comparative Effectiveness Research
Patient Centered Outcomes Research Institute, 2019 (Posted: Mar-20-2019 8AM)


Rare Diseases Public Health Genomics Knowledge Base
CDC Office of Public Health Genomics , 2019 Brand (Posted: Mar-15-2019 8AM)


About Rare Cancers
NCI Information, 2019 Brand (Posted: Mar-13-2019 8AM)


Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease
Hernan D. Gonorazky, et al. The American Journal of Human Genetics, Feb 28, 2019 (Posted: Mar-01-2019 8AM)


Thoughts from the Front Lines of Rare Disease Research
NIH Directors Blog, February 28, 2019 Brand (Posted: Feb-28-2019 10AM)


Auburn University senior who lost her brother to rare genetic disease is on a mission for a cure
J McCoy, Auburn U, February 23, 2019 (Posted: Feb-25-2019 9AM)


Two drugs for spinal muscular atrophy should be priced how low to be cost effective?
E Silverman, Stat News, February 22, 2019 (Posted: Feb-23-2019 10AM)


Nitisinone increases melanin in people with albinism
NIH News Release, February 20, 2019 Brand (Posted: Feb-20-2019 11AM)


Rare Diseases Are Not Rare!
C Austin, NIH, February 2019 Brand (Posted: Feb-19-2019 9AM)


I have a rare disease. Research on such illnesses can provide insights into more common ones.
SH Bacon, Washington Post, February 15, 2019 (Posted: Feb-17-2019 1PM)


The patient's view on rare disease trial design - a qualitative study.
Gaasterland C M W et al. Orphanet journal of rare diseases 2019 Feb (1) 31 (Posted: Feb-17-2019 1PM)


Information and genetic counselling for psychiatric risks in children with rare disorders
A Cuthbert et al, BioRXIV, February 2019 (Posted: Feb-11-2019 10AM)


Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).
Chassagne Aline et al. European journal of human genetics : EJHG 2019 Feb (Posted: Feb-06-2019 8AM)


With time ticking away, clinicians scramble to save newborn twins from the disease that took their brother
R Robbins, Stat News, February 5, 2019 (Posted: Feb-06-2019 8AM)


more


Disclaimer: Articles listed in Hot Topics of the Day are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
TOP