Genetic genealogy

New Comprehensive DNA Health Panel Is Now Available

Retrieved on: 
Tuesday, May 29, 2018
Biology, Genetics, DNA, Mutation, Genetic genealogy, Molecular biology, Single-nucleotide polymorphism

PORTLAND, Ore., May 29, 2018 /PRNewswire/ -- Genetics Leader Kashi Clinical Laboratories ( kashilab.com ) released today its unique "Defy Your DNA Program," one of the most comprehensive, research-based DNA health panels on the market.

Key Points: 
  • PORTLAND, Ore., May 29, 2018 /PRNewswire/ -- Genetics Leader Kashi Clinical Laboratories ( kashilab.com ) released today its unique "Defy Your DNA Program," one of the most comprehensive, research-based DNA health panels on the market.
  • The groundbreaking DNA health panel provides fast and accurate information on a unique collection of the most clinically relevant SNPs (single nucleotide polymorphisms) affecting weight management, diabetes, cardiac health, nutritional function, bone health and estrogen metabolism, memory and brain health, mood disorders and methylation cycle function.
  • "Health providers are increasingly using genetic testing so they can more effectively tailor treatment plans for their patients," says Kashi Founder and Chief Executive Officer Zahra Kashi, Ph.D., H.C.L.D.
  • Kashi's comprehensive new panel includes only the SNPs that have been shown through research to be relevant in treatment decision making.

New Review Exploring the Role of the Haematologist in Finding and Treating Gaucher Disease Type 1

Retrieved on: 
Thursday, May 24, 2018
Medicine, Lipid storage disorders, Rare diseases, Health, Genetic genealogy, Gaucher's disease, Lysosomal storage disease, Medical diagnosis, Thrombocytopenia

Published recently in European Oncology & Haematology Review, the peer-reviewed journal from touchONCOLOGY, Maria-Domenica Cappellini et al, discuss the role of the haematologist in finding and treating Gaucher disease type 1.Gaucher disease (GD) type 1 is the most common lysosomal storage disease and the most common genetic disorder among Ashkenazi Jews.

Key Points: 
  • Published recently in European Oncology & Haematology Review, the peer-reviewed journal from touchONCOLOGY, Maria-Domenica Cappellini et al, discuss the role of the haematologist in finding and treating Gaucher disease type 1.Gaucher disease (GD) type 1 is the most common lysosomal storage disease and the most common genetic disorder among Ashkenazi Jews.
  • Treatment is most effective when initiated early; consequently, a prompt diagnosis is essential.
  • Despite this, the average time to diagnosis following the onset of clinical symptoms is 4 years.
  • Indeed, studies show that only 20% of haematologists consider GD type 1 in their differential diagnosis for patients presenting with splenomegaly and/or thrombocytopenia.

New Review Exploring the Role of the Haematologist in Finding and Treating Gaucher Disease Type 1

Retrieved on: 
Thursday, May 24, 2018
Medicine, Lipid storage disorders, Rare diseases, Health, Genetic genealogy, Gaucher's disease, Lysosomal storage disease, Medical diagnosis, Thrombocytopenia

Published recently in European Oncology & Haematology Review, the peer-reviewed journal from touchONCOLOGY, Maria-Domenica Cappellini et al, discuss the role of the haematologist in finding and treating Gaucher disease type 1.Gaucher disease (GD) type 1 is the most common lysosomal storage disease and the most common genetic disorder among Ashkenazi Jews.

Key Points: 
  • Published recently in European Oncology & Haematology Review, the peer-reviewed journal from touchONCOLOGY, Maria-Domenica Cappellini et al, discuss the role of the haematologist in finding and treating Gaucher disease type 1.Gaucher disease (GD) type 1 is the most common lysosomal storage disease and the most common genetic disorder among Ashkenazi Jews.
  • Treatment is most effective when initiated early; consequently, a prompt diagnosis is essential.
  • Despite this, the average time to diagnosis following the onset of clinical symptoms is 4 years.
  • Indeed, studies show that only 20% of haematologists consider GD type 1 in their differential diagnosis for patients presenting with splenomegaly and/or thrombocytopenia.

CARSTAR Gearing up for Shine Month Fundraising to Fight Cystic Fibrosis

Retrieved on: 
Friday, May 18, 2018
Cystic Fibrosis Canada, Kin Canada, Cystic fibrosis, Health, Gastroenterology, Genetic genealogy, Cystic Fibrosis Foundation, Shinerama

The CARSTAR and cystic fibrosis affiliation all started when Victoria, granddaughter of Harry Belmont, previous CARSTAR Mississauga Hawkestone owner, received a cystic fibrosis diagnosis in 1997.

Key Points: 
  • The CARSTAR and cystic fibrosis affiliation all started when Victoria, granddaughter of Harry Belmont, previous CARSTAR Mississauga Hawkestone owner, received a cystic fibrosis diagnosis in 1997.
  • Over the course of the more than 20-year partnership, Canadian franchise partners, vendors and community supporters helped CARSTAR raise over $3 million for Cystic Fibrosis Canada.
  • The Walk to Make Cystic Fibrosis, happening on May 27, 2018 across Canada and the Great Strides Walk happening all over the U.S. throughout the month of May, will kick off our Shine Month fundraising.
  • Through a variety of fundraising initiatives, CARSTAR, its franchisees, partners and employees have raised over $3 million for Cystic Fibrosis Canada, and has made fighting cystic fibrosis its cause, North American wide.

Global Mucopolysaccharidosis Type IV Epiomic Epidemiology Report 2018 - Forecast In 28 Major Markets to 2028

Retrieved on: 
Friday, May 11, 2018
Rare diseases, Genetic genealogy, Medical genetics, Syndromes, Medicine, Mucopolysaccharidosis, Morquio syndrome, Hurler syndrome, Genetic disorder

The "Epiomic Epidemiology Series: Mucopolysaccharidosis Type IV Forecast In 28 Major Markets 2018-2028" report has been added to ResearchAndMarkets.com's offering.

Key Points: 
  • The "Epiomic Epidemiology Series: Mucopolysaccharidosis Type IV Forecast In 28 Major Markets 2018-2028" report has been added to ResearchAndMarkets.com's offering.
  • Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is an inherited autosomal recessive genetic disorder in which glycosaminoglycans (GAGs) are accumulated in lysosomes due to mutations that cause loss of function of an enzyme responsible for degrading GAGs.
  • The disorder manifests with multiple skeletal defects and has two subtypes, MPS IVA and MPS IVB, differing in the mutated gene.
  • MPS IV patients grouped by disease subtype, history of surgical procedures and comorbidities have been quantified and presented alongside the overall prevalence figures.

Parabon® Announces Snapshot® Genetic Genealogy Service for Law Enforcement

Retrieved on: 
Tuesday, May 8, 2018
DNA, Parabon NanoLabs, Geography of California, California, Medicine, CeCe Moore, Golden State Killer, Genetic testing, Genetic genealogy, DNA phenotyping

RESTON, Va., May 8,2018 /PRNewswire/ -- Parabon NanoLabs (Parabon) announced today the general availability of its Snapshot Genetic Genealogy Service , which provides investigators a revolutionary new tool for solving crimes with evidence from an unknown DNA sample.

Key Points: 
  • RESTON, Va., May 8,2018 /PRNewswire/ -- Parabon NanoLabs (Parabon) announced today the general availability of its Snapshot Genetic Genealogy Service , which provides investigators a revolutionary new tool for solving crimes with evidence from an unknown DNA sample.
  • The company's new genetic genealogy (GG) unit is led by CeCe Moore, a pioneer in the field, best known for her work on the PBS television series Finding Your Roots.
  • Parabon's GG analysts compare crime scene DNA samples against public genetic genealogy databases to narrow down a suspect list to a region, a family, or even an individual.
  • The approach is the same as that used by law enforcement to identify the Golden State Killer suspect Joseph James DeAngelo.

Invitae Announces New Program to Offer Genetic Testing to Aid Diagnosis of Spinal Muscular Atrophy (SMA)

Retrieved on: 
Friday, April 27, 2018
Spinal muscular atrophy, Neurology, Motor neuron diseases, Neurogenetic disorders, Genetic genealogy, Medical genetics, Neuromuscular Disorders, Motor system, SMA, Survival of motor neuron, Spinal muscular atrophies, RG7916

The program, SMA Identified, is the latest addition to Invitae's network of partnerships that connect patients and clinicians to treatment and research.

Key Points: 
  • The program, SMA Identified, is the latest addition to Invitae's network of partnerships that connect patients and clinicians to treatment and research.
  • The SMA Identified program facilitates access to no-charge genetic testing to help accelerate and/or confirm the diagnosis of SMA.
  • Positive results from genetic testing are typically required to initiate treatment.1
    SMA results from insufficient survival motor neuron (SMN) protein in motor neurons.
  • Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care.