Issue 79  October 12th 2018

Disease causing mutation found in French-Canadians

A team of Canadian scientists, including researchers at the Montreal Neurological Institute and Hospital (The Neuro) has discovered the first French-Canadian founder mutation gene linked to synucleinopathies, a group of neurodegenerative diseases that includes Parkinson's disease (PD), dementia with Lewy-Bodies (DLB) and multiple system atrophy (MSA).

The mutation, known as p.Trp378Gly, is in the GBA gene, one of the most prominent genes involved in PD. The most common GBA mutations create a small risk of developing synucleinopathies, but in combination with other mutations the risk can increase dramatically. The study found that one per cent of French-Canadians with synucleinopathies have the GBA mutation. This mutation is specific to French-Canadians and was probably inherited from a single common ancestor.

"We don't know how frequent this mutation is in the general French-Canadian population, but it doesn't appear to be very common. We're going to test additional subjects so we can determine its exact frequency," says Dr. Ziv Gan-Or, a genetics researcher at The Neuro and the study's lead author. "This mutation causes Gaucher's disease, so it has clinical importance for couples who want to have children. They can request genetic screening for this specific gene mutation."

The study involved genetic examination of 891 control patients, 436 PD patients, and 189 REM-sleep Behaviour Disorder (RBD) patients whose condition has a strong link to synucleinopathies. All PD and RBD patients were of French-Canadian ancestry. The results were published in the print version of the journal Clinical Genetics on Oct. 1, 2018.

Human cell atlas will identify and catalog all human cell types

Even in its early stages the Human Cell Atlas project is impacting the direction of research and development of RNA sequencing and other genetic tests.

No one knows exactly how many cell types exist in the human body. Though traditional texts place numbers in the hundreds, recent studies have found ranges from thousands to tens of thousands. Anatomic pathologists and clinical laboratory scientists know that the discovery of new types of human cells could lead to the creation of new medical laboratory tests.

It’s an important development that leaders of the Human Cell Atlas Consortium, a project comparable to the Human Genome Project, have set out to determine the exact numbers of cell types. Their findings could open up an entirely new field of diagnostic testing for clinical laboratories and anatomic pathology and lead to advances in precision medicine.

With the ability to identify cell types and sub-types associated with human disease and health conditions, medical labs could have a useful new way to help physicians make diagnoses and select appropriate therapies.

Begun in 2016, the group’s mission according to the Human Cell Atlas website is “To create comprehensive reference maps of all human cells—the fundamental units of life—as a basis for both understanding human health and diagnosing, monitoring, and treating disease.”

The ambitious project aims to catalog every cell type in the human body and “account for and better understand every cell type and sub-type, and how they interact.”

15 emerging technologies that could reduce global catastrophic biological risks

Strategic investment in promising technologies could help make the world better prepared and equipped to prevent future infectious disease outbreaks from becoming catastrophic events. This subset of emerging technologies are the focus of a new report, Technologies to Address Global Catastrophic Biological Risks, by researchers at the Johns Hopkins Center for Health Security. The study is among the first to assess technologies for the purpose of reducing GCBRs--a special category of risk defined previously by the Center as threats from biological agents that could lead to sudden, extraordinary, widespread disaster beyond the collective capability of national and international organizations and the private sector to control.

Through an extensive literature review and interviews with more than 50 experts, the project identified 15 example technologies and grouped them into 5 broad categories that are significantly relevant to public health preparedness and response:

• Disease Detection, Surveillance, and Situational Awareness: Ubiquitous Genomic Sequencing and Sensing, Drone Networks for Environmental Detection, Remote Sensing for Agricultural Pathogens
• Infectious Disease Diagnostics: Microfluidic Devices, Handheld Mass Spectrometry, Cell-Free Diagnostics
• Distributed Medical Countermeasure Manufacturing: 3D Printing of Chemicals and Biologics, Synthetic Biology for Manufacturing MCMs
• Medical Countermeasure Distribution, Dispensing, and Administration: Microarray Patches for Vaccine Administration, Self-Spreading Vaccines, Ingestible Bacteria for Vaccination, Self-Amplifying mRNA Vaccines, Drone Delivery to Remote Locations
• Medical Care and Surge Capacity: Robotics and Telehealth, Portable Easy-to-Use Ventilator

Medical technologists demand clarified role, better treatment - Korea

Associations of medical laboratory scientists in Korea have voiced up for a clarified role of their job and better treatment. Eight groups, including the Korea Association of Medical Technologists, the Korean Radiological Technologists Association, and the Korea Physical Therapy Association, met up at the Grand Hall of Yonsei University in Seoul to present their demands in healthcare policies.

The event gathered hundreds of medical technologists from across the nation. The atmosphere heated up with lawmakers pledging to improve their work-related welfare and address issues. The policy goals of the eight associations include enacting a law on advanced medical devices, benchmarking the role of medical technologists in advanced nations, establishing an education evaluation institute for clinical lab scientists, and standardizing the scope of work.

The Korea Association of Medical Technologists urged the government to lift the ban on medical lab scientists that prohibits them from participating in a hospital’s infection control. It claimed that the Medical Service Act’s Enforcement Rules should be revised to allow medical technologists with experience and knowledge to manage infection.

Rep. Nam In-soon of the ruling Democratic Party said she would aggressively push to reflect medical technologists’ opinions in the policy-making if the eight organizations could speak in one voice. “As a member of the Health and Welfare Committee, I will listen to your voice so that your expertise can be recognized,” she said.

Predicting Autism With EEG?

There is no reliable biomarker for autism detection and because it's a developmental disorder, and milestones in child development happen along a range of time rather than always at the same age, pinning it down can be problematic. A new research study on diagnosing autism, from a team of scientists at the University of San Francisco and Harvard Medical School in Boston was published in the journal Scientific Reports. The work suggests that machine learning and algorithms can predict or rule out autism based on non-linear analysis of EEG readouts.

The lead author of the study, Dr. William Bosl, is an associate professor of Health Informatics and Clinical Psychology at USF explained, "Detecting the emerging disorder before a child begins to show symptoms of autism is key. Brain development precedes the emergence of behavioral characteristics. Measuring atypical changes in the brain could open a new window to early intervention that might enable prevention. That may be more successful than trying to reverse symptoms that have already emerged after the brain has developed in an atypical way."

So how did the study work? The study participants were seen at Boston Children's Hospital where they underwent EEG testing via a stretchy cap of scalp sensors that picked up brain activity signals. The algorithms, developed by Dr. Bosl's team, were then used to evaluate the patterns of neural activity and they did this, in even the youngest infants in the study, with a 95% accuracy rate. Knowing that something is going on in the brain years before the accompanying behaviors show up is a massive step for autism research because it allows children to be identified for services and support before they reach school age, cutting down on academic delays and social issues that can impair the ability to learn.

'10,000 Immunomes' database opens a window on healthy immunity

Scientists at UC San Francisco have painstakingly assembled a searchable database of normal human immunity that researchers can now use as an instant comparison group in studies of the immune system and immune dysfunction. The new open-access data tool, called the 10,000 Immunomes Project (10KIP), pieces together the results of 83 studies that contain measurements on healthy people of various ages and backgrounds.

The effort comes amid several high-profile announcements about open data, including the Vivli project to share clinical trial data, and Google's new search engine for open data.

The database contains measurements from normal, healthy individuals enrolled in control groups for studies of organ transplantation, autoimmune disease trials, vaccine studies and other work funded by the National Institute of Allergy and Infectious Diseases (NIAID) that were uploaded to a preexisting data portal called ImmPort. The work is described in a paper published Tuesday, Oct. 9, 2018, in Cell Reports.

"I'm a big proponent of open data, and my lab has been working for years with Northrop Grumman and NIAID to disseminate immunology data through ImmPort," said senior author Atul Butte, MD, PhD, the Priscilla Chan and Mark Zuckerberg Distinguished Professor and director of the Bakar Computational Health Sciences Institute at UCSF (BCHSI). "We realized we had so much data, and especially we had so many control group individuals -- healthy folks with no disease, who were treated with placebo or no drug at all -- that we could now get a broad survey of what a normal healthy immune system looks like from all these individuals."

Drawing Blood After Transfusions

Cell counts drawn during a transfusion provide little useful information except in trauma cases where the patient's condition is changing rapidly and must be monitored frequently. Once all donor cells have been transfused, accurate cell counts may be obtained immediately after transfusion. However, waiting an hour post-transfusion may yield more accurate results because of the many variables that affect donor cell distribution.

The main objective in collecting a post-transfusion specimen is to acquire a homogeneous sample of patient blood and donor cells. A multitude of variables determine homogeneity including the status of the patient's heart, kidneys, and circulatory system, the patient's pre-transfusion blood volume, and the age and volume of the transfused cells. The homogeneity of circulating blood does not occur in patients receiving blood due to an acute hemorrhage until all hemorrhaging has been stopped.

The levels of several chemistry analytes can be elevated for prolonged periods after transfusion. During storage of a donor unit, a significant percentage of red blood cells can hemolyze. Therefore, post-transfusion specimens can have elevated levels of plasma hemoglobin, potassium, ammonia, urea nitrogen, uric acid, vitamin B12, LD, and serum iron. These levels can remain elevated up to 24 hours, depending on the patient's kidney function and other variables. Laboratories testing post-transfusion specimens for these analytes should consider documenting the potential effect of the transfusion on these tests when releasing results.