My Daughter's Rare Disease Was A Mystery For Years. Here's How We Finally Got A Diagnosis.

https://www.huffpost.com/entry/rare-disease-day-child_n_6218e5b9e4b0afc668bf4a03

Genetic risks for depression differ between East Asian and European groups

https://scienceblog.com/525701/genetic-risks-for-depression-differ-between-east-asian-and-european-groups/

Gene Panel Sequencing of Patients With Monogenic Diabetes Brings to Light Genes Typically Associated With Syndromic Presentations

https://diabetesjournals.org/diabetes/article/71/3/578/138949/Gene-Panel-Sequencing-of-Patients-With-Monogenic


Functional Gly297Ser Variant of the Physiological Dysglycemic Peptide Pancreastatin Is a Novel Risk Factor for Cardiometabolic Disorders

https://diabetesjournals.org/diabetes/article/71/3/538/138933/Functional-Gly297Ser-Variant-of-the-Physiological

Alzheimer’s risk genes linked to brain vasculature by new genetic atlas

https://scienceblog.com/528567/alzheimers-risk-genes-linked-to-brain-vasculature-by-new-genetic-atlas/

Expanding the diagnosis for Xia-Gibbs Syndrome

https://scienceblog.com/525248/expanding-the-diagnosis-for-xia-gibbs-syndrome/

Scientists have pinpointed 16 new genetic variants in people who developed severe COVID-19 in a large study published on Monday that could help researchers develop treatments for very sick patients.
https://www.reuters.com/business/healthcare-pharmaceuticals/scientists-identify-new-gene-differences-severe-covid-patients-2022-03-07/

After a lifetime of constant nosebleeds, a woman found out she had a rare genetic disease

hhttp://ttps://www.msn.com/en-us/health/medical/after-a-lifetime-of-constant-nosebleeds-a-woman-found-out-she-had-a-rare-genetic-disease/ar-AAUQdfX?ocid=winp1taskbar

Treating tough tumors by exploiting their iron ‘addiction’

https://scienceblog.com/528655/treating-tough-tumors-by-exploiting-their-iron-addiction/

Researchers uncover genetic ‘bridge’ to leukemia progression

https://scienceblog.com/528692/researchers-uncover-genetic-bridge-to-leukemia-progression/

Alzheimer’s disease: mounting evidence that herpes virus is a cause

https://theconversation.com/alzheimers-disease-mounting-evidence-that-herpes-virus-is-a-cause-104943


The Y Chromosome Is Disappearing – So What Will Happen to Men?

https://getpocket.com/explore/item/the-y-chromosome-is-disappearing-so-what-will-happen-to-men


Evolution Runs Faster on Short Timescales

https://getpocket.com/explore/item/evolution-runs-faster-on-short-timescales?utm_source=pocket-newtab

Microbes and minerals may have set off Earth’s oxygenation

https://scienceblog.com/528719/microbes-and-minerals-may-have-set-off-earths-oxygenation/

NIH launches clinical trial of three mRNA HIV vaccines

https://scienceblog.com/528746/nih-launches-clinical-trial-of-three-mrna-hiv-vaccines/

Treating tough tumors by exploiting their iron ‘addiction’

https://scienceblog.com/528655/treating-tough-tumors-by-exploiting-their-iron-addiction/

Vaccine protects against disfiguring leishmaniasis parasite

https://scienceblog.com/528822/vaccine-protects-against-disfiguring-leishmaniasis-parasite/


Researchers ID gene mutations tied to pregnancy sickness

https://scienceblog.com/528827/researchers-id-gene-mutations-tied-to-pregnancy-sickness/

New targets for treating Parkinson’s disease

https://scienceblog.com/528887/new-targets-for-treating-parkinsons-disease/


‘Worm-on-a-chip’ device could someday help diagnose lung cancer

https://scienceblog.com/528900/worm-on-a-chip-device-could-someday-help-diagnose-lung-cancer/

New and improved cherry flavor courtesy of the petunia flower

http://https:/scienceblog.com/528927/new-and-improved-cherry-flavor-courtesy-of-the-petunia-flower/

Scientists might have finally figured out how vampire bats thrive on an all-blood diet

https://www.inverse.com/science/vampire-bats-all-blood-diet


FDA approves first treatment for seizures in patients with rare form of genetic epilepsy

https://www.healio.com/news/primary-care/20220318/fda-approves-first-treatment-for-seizures-in-patients-with-rare-form-of-genetic-epilepsy?utm_source=selligent&utm_medium=email&utm_campaign=news&M_BT=6620114329042

In the study, an international team of scientists announced they successfully sequenced the A. filiculoids genome as well as the genome of another floating fern known as Salvina cucullata. Co-author and University of California Berkeley integrative biology professor Carl Rothfels, Ph.D. tells Inverse that having these genomes brings scientists one step closer to “understanding some of the crazy biology of these particular species.”

Rothfels says that one of the most “extraordinary features” of this fern is its ability to have a symbiotic relationship with cyanobacteria, which in turn gives it the ability to “fix” nitrogen. Nitrogen fixation is the process by which plants use the chemical element as a fertilizer: Most plants typically can’t do this alone, but the blue-green cyanobacteria that live in the Azolla leaves allow for this process to happen. In turn, Azolla can sustain rapid growth in favorable conditions.

That’s important for multiple reasons, the first being that the fern shows “great promise as a biofuel,” says Rothfel. While it’s been used as a fertilizer for rice paddies in Asia for the past 1,000 years, he and his team are now curious to know whether it could be used as a sustainable fertilizer elsewhere. Its ability to help agricultural crops is compounded by its resistance to pests: Farmers have noticed for decades that bugs generally don’t like ferns, and now the sequencing of the Azolla genome reveals it carries certain genetic mutations that allow it to repel insects.

Unprecedented videos show RNA switching ‘on’ and ‘off’

https://scienceblog.com/529159/unprecedented-videos-show-rna-switching-on-and-off/


DTx Pharma, Inc. Completes CMT Research Foundation-Funded Project

https://cmtrf.org/dtx-pharma-inc-completes-cmt-research-foundation-funded-project/?utm_source=CMT+Research+Foundation&utm_campaign=538bd8006b-EMAIL_CAMPAIGN_RareDiseaseDay2-SUBSCRIBERS_COPY_01&utm_medium=email&utm_term=0_62a73085ac-538bd8006b-213102078&ct=t(EMAIL_CAMPAIGN_RareDiseaseDay_SUBSCRIBERS_COPY_01)&mc_cid=538bd8006b&mc_eid=fc224b5e76


Gene project for CMT2E has completed Milestone 1 successfully.

https://cmtrf.wpengine.com/research-update-for-cmt2e/?utm_source=CMT+Research+Foundation&utm_campaign=538bd8006b-EMAIL_CAMPAIGN_RareDiseaseDay2-SUBSCRIBERS_COPY_01&utm_medium=email&utm_term=0_62a73085ac-538bd8006b-213102078&ct=t(EMAIL_CAMPAIGN_RareDiseaseDay_SUBSCRIBERS_COPY_01)&mc_cid=538bd8006b&mc_eid=fc224b5e76

CMT Research Foundation Targets CMT1X in Partnership with University of Illinois Chicago

https://cmtrf.org/cmt-research-foundation-targets-cmt1x-in-partnership-with-university-of-illinois-chicago-2/?utm_source=CMT+Research+Foundation&utm_campaign=538bd8006b-EMAIL_CAMPAIGN_RareDiseaseDay2-SUBSCRIBERS_COPY_01&utm_medium=email&utm_term=0_62a73085ac-538bd8006b-213102078&ct=t(EMAIL_CAMPAIGN_RareDiseaseDay_SUBSCRIBERS_COPY_01)&mc_cid=538bd8006b&mc_eid=fc224b5e76

CMT Research Foundation partners with Biotechnology Company AcuraStem and CMT Researcher Alessandra Bolino to test new drug in CMT4B1

https://cmtrf.org/new-drug-to-test-in-cmt4b1/?utm_source=CMT+Research+Foundation&utm_campaign=538bd8006b-EMAIL_CAMPAIGN_RareDiseaseDay2-SUBSCRIBERS_COPY_01&utm_medium=email&utm_term=0_62a73085ac-538bd8006b-213102078&ct=t(EMAIL_CAMPAIGN_RareDiseaseDay_SUBSCRIBERS_COPY_01)&mc_cid=538bd8006b&mc_eid=fc224b5e76


CMT1B project is funded & ready for take off!

https://cmtrf.org/cmt1b-is-underway/?utm_source=CMT+Research+Foundation&utm_campaign=538bd8006b-EMAIL_CAMPAIGN_RareDiseaseDay2-SUBSCRIBERS_COPY_01&utm_medium=email&utm_term=0_62a73085ac-538bd8006b-213102078&ct=t(EMAIL_CAMPAIGN_RareDiseaseDay_SUBSCRIBERS_COPY_01)&mc_cid=538bd8006b&mc_eid=fc224b5e76


New Research Project to Advance Treatments for CMT1B

https://cmtrf.org/new-research-project-to-advance-treatments-for-cmt1b/?utm_source=CMT+Research+Foundation&utm_campaign=538bd8006b-EMAIL_CAMPAIGN_RareDiseaseDay2-SUBSCRIBERS_COPY_01&utm_medium=email&utm_term=0_62a73085ac-538bd8006b-213102078&ct=t(EMAIL_CAMPAIGN_RareDiseaseDay_SUBSCRIBERS_COPY_01)&mc_cid=538bd8006b&mc_eid=fc224b5e76

Inflammation linked to neuropsychiatric illness

https://scienceblog.com/529229/inflammation-linked-to-neuropsychiatric-illness/


Anti-cancer ‘dream cream’ shrinks oral tumors

https://scienceblog.com/529232/anti-cancer-dream-cream-shrinks-oral-tumors/