gene Archives - Mediarabe

People With This Rare Gene Mutation Can’t Smell Fishy Scents

October 9, 2020

KEY POINTS

Researchers conducted a smell test on over 9,000 participants
Some of them couldn’t detect the fish scent or had a less intense experience
Researchers found for these people the fish’s off-putting odor might smell even like caramel

A new study has revealed a genetic mutation that makes people who carry it be less susceptible to the smell of fish. For some of these people, fish’s off-putting odor might even smell like caramel or roses.

Humans perceive smells using olfactory receptors, but of the 855 olfactory genes, about half are actually not functional. The reasons for this and why people have a “highly personalized” sense of smell remain a mystery.

To shed light on the matter, the researchers of a new study conducted a smell test wherein they presented 9,122 participants in Iceland with various smells including fish, cinnamon and liquorice, then asking them to name it and rate

Pfizer and Sangamo Dose First Participant in Phase 3 Study Evaluating Hemophilia A Gene Therapy Treatment

October 7, 2020

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Pfizer Inc. (NYSE: PFE) and Sangamo Therapeutics, Inc. (Nasdaq: SGMO), a genomic medicines company, today announced that the first participant has been dosed in the Phase 3 AFFINE study of giroctocogene fitelparvovec (SB-525), an investigational gene therapy for hemophilia A patients.

This press release features multimedia. View the full release here: https://www.businesswire.com/news/home/20201007005049/en/

AFFINE is a global Phase 3, open-label, multicenter, single arm study that will evaluate the efficacy and safety of giroctocogene fitelparvovec in patients with moderately severe to severe hemophilia A. The primary endpoint is impact on annual bleed rate (ABR) through 12 months following treatment with giroctocogene fitelparvovec, compared to ABR on Factor VIII (FVIII) replacement therapy collected in the Phase 3 lead-in study period. Participants will be analyzed throughout the 5-year study period following the single infusion to further assess the durability and efficacy.

“The initiation of the pivotal Phase 3 dosing study of giroctocogene fitelparvovec is

HCA Houston Healthcare North Cypress offers preventative gene testing for breast cancer

October 6, 2020

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When Dalyss Tomayer found out three of her relatives had had breast cancer, it was enough to qualify her for the genetic testing which showed she had a high risk of breast cancer herself.

Tomayer was able to discover the gene early due to getting tested at HCA Houston Healthcare North Cypress’ High Risk Breast Clinic, where they offer genetic testing for those who qualify to see if they may have the BRCA1 or BRCA2 gene which puts people at higher risk for breast cancer.

On HoustonChronicle.com: Willowbrook breast cancer support group still meeting virtually

“I had known for years that two of my dad’s sisters had breast cancer, and it was in speaking with one of my aunts that I then found out also one of my cousins had breast cancer,” Tomayer said. “So, it was at that time that I realize that I did qualified for the genetic

Diamond Pharma Services Supports GenSight Biologics in Submitting Its First Marketing Authorisation Application, for Ocular Gene Therapy LUMEVOQ

October 5, 2020

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Diamond Pharma Services has provided EU regulatory, pharmacovigilance, quality and compliance support to GenSight, leading to the Marketing Authorisation Application for LUMEVOQ
LUMEVOQ is a gene therapy to treat vision loss due to the rare, mitochondrial genetic disease, Leber Hereditary Optic Neuropathy

Diamond Pharma Services (“Diamond”), a leading technical services and regulatory affairs consulting group, has announced that it provided EU regulatory, pharmacovigilance, quality and compliance support to GenSight Biologics (“GenSight”), including the preparation, authoring support, agency communication and submission of GenSight’s first Marketing Authorisation Application to the European Medicines Agency (EMA), for its novel ocular gene therapy LUMEVOQ^®. The EMA decision is expected in H2 2021.

LUMEVOQ (Lenadogene nolparvovec) is a gene therapy to treat vision loss due to the rare, mitochondrial genetic disease, Leber Hereditary Optic Neuropathy (LHON) caused by mutation in the ND4 mitochondrial gene. LHON mainly affects young males, and the ND4 mutation results

MTHFR gene not linked to physical marks, vaccine response

September 29, 2020

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Struggling families shouldn’t have to worry how to get clean diapers for their babies. It’s that principle that drove Stephanie Bowers to create Jake’s Diapers.

USA TODAY

The claim: MTHFR gene has telltale signs and those with it cannot ‘detox the toxins from the vaccines’

A mole above the lip or high on the cheek is often seen as a sign of beauty but some birthmarks, a Facebook post alleges, may indicate more harm than good.

“MTHRF INDICATORS,” reads a gallery of images depicting young children, each with three different categories of congenital markings. Red circular patches of skin, featured predominantly on the head and neck, are characterized as “stork bites,” a visible “blue vein” on the nasal bridge is a “sugar bug” and small indentations near the “butt crack” are sacral dimples.

The accompanying text warns these three are signs of the MTHFR gene and anyone with a

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